Sehrish Kanwal1, Ali Saeed1*, Muhammad Munir2, Memoona Arshad1
Life Sciences International Journal Issue 7 Volume 1
...ahore vaccine was at two mutations from central node, while HE647819 and HE647820 were clustered into a separate single taxon at eightieth (80) mutations from central node. Taken together, these findings highlight the continuous circulation of serotype O of FMD in the region.
...
Sehrish Kanwal, Ali Saeed, Muhammad Munir, Memoona Arshad
British Journal of Virology
...ahore vaccine was at two mutations from central node, while HE647819 and HE647820 were clustered into a separate single taxon at eightieth (80) mutations from central node. Taken together, these findings highlight the continuous circulation of serotype O of FMD in the region.
...
Sehrish Kanwal1, Ali Saeed1*, Muhammad Munir2, Memoona Arshad1
British Journal of Virology
...ahore vaccine was at two mutations from central node, while HE647819 and HE647820 were clustered into a separate single taxon at eightieth (80) mutations from central node. Taken together, these findings highlight the continuous circulation of serotype O of FMD in the region....
El-Sayed M. Abdelwhab, Jutta Veits and Thomas C. Mettenleiter
Avian Influenza H5N1 in Egypt: What we Know and What we have to Know?
...mans were accompanied by mutations in the hemagglutinin (HA) protein which improved the binding affinity to human receptors but simultaneously retained its specificity for avian-receptors. Vaccines were applied nationwide to control the disease in poultry. Meanwhile, the viruses accumulated several point mutations in the HA immunogenic epitopes resulting in antigenic drift and the establishment of infections in vaccinated po...
Huaichang Sun
...NA viruses undergo rapid mutations which compromises the immune protection of conventional vaccines. RNA interference (RNAi) has becoming a feasible strategy against various virus infections. Recently, a significant advance in RNAi technology is the use of artificial microRNAs (amiRNAs) to fight virus infections. However, different strategies are needed to prevent virus variation or mutation escape. This review is intended to present the current situation of a...
Misbah Riaz1, Qaiser Mansoor2, Maleeha Akram1, Muhammad Ismail2, Parveen Akhtar3, Shakeel Mirza4, Mazhar Qayyum1, Afzaal Ahmed Naseem1, Faheem Tahir5 and Syed Shakeel Raza Rizvi1*
...puberty. Amongst others, mutations in GPR54 and GnRH receptor (GNRHR) are possible causes of HH. This study aimed at identification of mutations in GPR54 and GNRHR genes and their correlation with HH in Pakistani boys. Thirty one boys with delayed puberty and thirty one normal age matched controls were examined. Genomic DNA was extracted and amplified by PCR using specific primers for GPR54 and GNRHR splice site exons.
Sameera Akhtar1*, Muhammad Akram Muneer1, Khushi Muhammad1, Muhammad Yasin Tipu1, Muhammad Anees2, Imran Rashid1, Raza-ur-Rehman3 and Irshad Hussain1
...a number of substitution mutations in the structural and functional domains when compared to the representative strains of each genotype including the vaccine strains (genotype II and III). Interestingly, some of these mutations were found exclusive to the study isolate. Not only do these prime findings improve our understanding about currently circulating strains of NDVs but they also help us to envisage potential efforts t...
Ayesha Zahid,Ammara Muazzam, Sidra Mustafa, Saba Irshad*,Malik Siddique Mahmood and Rehman Shahzad
...hes have validated that, mutations in GJA8 are coherent source of lens opaqueness and inappropriate growth of fiber cells. In the present study, a novel G to C substitution (1104G>C) (pE368Q) was screened by PCR-SSCP in exon 2 of GJA8 and this tansversion altered exceedingly conserved glutamic acid to glutamine at site which was involved in coding of ASF1 like histone chaperone. Further presumption based on structural and functional analysis of mutat...
Hussein Aly Hussein1*, Omneya Mohamed Khattab2, Shereen Mohamed Aly2, and Mohammed Abdel Mohsen Rohaim1
...ates had nine nucleotide mutations in comparison with the local reference strain, LSDV-Egypt/89 Ismalia. Compared with the GPCR sequences of SPV and GPV strains, 21 nucleotide insertion and 12 nucleotides deletions were identified in the GPCR genes of our isolates and other LSDVs. The amino acid sequences of GPCR genes of our isolates contained the unique signature of LSDV (A11, T12, T34, S99 and P199). Phylogenetic analyses showed that the GPCR genes of LSDVs...
Mehran Kausar1,2, Naveed Ashraf3, Farzana Hayat4, Asraf Hussain Hashmi1, Saima Siddiqi1,* and Mariam Anees2
...nheritance. More than 50 mutations have been reported in CTSK (Cathepsin k) responsible for this disease. Mutations in CTSK result in impaired bone resorption consequently leading to short stature, increased bone density, recurrent fractures, stubby hands and feet with dystrophic nails, unossified fontanels, and an obtuse mandibular. The present study was conducted to determine the underlying genetic cause of P...
Jianping Li1, Qian Jiang2, Wei Chen2, Yumei Li3, Huaizhi Jiang4, Jinlong Huo5 and Qiaoling Zhang2*
...The effect of KIT mutations on KIT protein expression was examined in white cashmere and black cashmere goats. A single A→G missense mutation in exon 13 differentiated cashmere goats with different colors. Only a histidine (H)→arginine (R) amino acid (AA) change was detected at KIT exon 13 in both the white cashmere goat and the black cashmere goat. Moreover, comparison with other species revealed three dramatic amino acid mutati...
Dildar Hussain Kalhoro1,2,, Shan Liang1, Muhammad Saleem Kalhoro2, Shoaib Ahmed Pirzado2, Nasir Rajput2, Muhammad Naeem2, Fahmida Parveen2 andYongjie Liu1*
...ene sequence four unique mutations were found in the amino acid of HA (A144T, R158K, D291N, L383F) and NA (T19A, V33L, V82A, S336N). The HA and NA genetic evolution analysis revealed that one isolate was most similar to the newly isolated H3N2 viruses from dogs in China and had the same evolutionary branching. The result provided a foundation for further studies on biological characteristics of CIV.
...
Sana Zahra
...opulation. More than 367 mutations of SLC26A4 have been reported so far with PDS. Identification of recurrent mutations reveals widespread lineage diversity and mutational specificity of a population. This study reports p.Y556C mutation as a recurring mutation in Punjabi population of Pakistan. A detailed genetic evaluation of four unrelated but ethnically similar families from Punjab province was performed.Linkage to...
Evolutionary Analysis and Phylodynamics of Avian Influenza Virus H5N1 between 2015 and 2016 in Egypt
Osama Elshazly1, AbdelSatar Arafa1, Mohammed A. Rohaim2, Ismaeil M. Reda2 and Hussein A. Hussein2*
... revealed characteristic mutations at HA antigenic sites besides two other mutations (129∆, I151T) that were found to be stable in recent subclade 2.2.1.1 isolates from humans and chickens. Our results revealed that linking the epidemiological and sequence data is important to understand the prevalence, transmission, persistence and evolution of the virus, and to monitor the circulating AIV strains and emergence of new...
Fatma Abdallah1*, Ola Hassnain2, Elsayed Attar3, Haytham Ali3,5, Mohamed Megahed1 and Venugopal Nair4
...ssess several amino acid mutations associated with the MDV virulence and a unique distortion in the Proline repeats (Proline-to-Alanine) at position 176 in the Egyptian MDV strains. The Phylogenetic analysis grouped the eight analysed sequences with the previously investigated Meq from Egypt (2011-2013) together with the very virulent European and Chinese MDV isolates. The latter confirmed the geographical structuring of the Egyptian MDV strains together with ...
Ansar Ahmed Abbasi1,*, Kathrin Blasius2-4, Imtiaz Ahmed6, Hao Hu7, Sylvie Picker-Minh2-4,8, Muhammad Nasim Khan5, Khalid Hameed1, Aneela Gulnaz1, Zahid Latif5, Abdul Rauf5 and Angela M. Kaindl2-4,8
... this disease. Biallelic mutations in the abnormal spindle-like, microcephaly associated gene ASPM causes MCPH type 5, the most common MCPH subtype. In the current study we recruited two families from Sialkot region of Pakistan which were assessed by whole exome sequencing and cosegregation analysis. We identified a previously described mutation c.4802C>G (p.S1601*) in the ASPM gene in both families. This study further underlines that
Tanveer Hussain1,*, Masroor Ellahi Babar1, Marcos De Donato2, Abdul Wajid1, Asif Nadeem3, Zahoor Ahmad3, Waqas Ahmad Khan4, Sunday O. Peters5 and Ikhide G. Imumorin6
...de changes. Only 5 point mutations were present in multiple individuals (SNP), but one was specific for indicine cattle. Two Lohani and 5 Nari Master cattle showed nucleotide changes specific to taurine cattle. Of the changes found, only three produced amino acid changes in the protein sequence. The UPGMA tree showed a clear differentiation between taurine and indicine cattle, except mitochondrial taurine sequences in Lohani and Nari Master breeds. The within-...
Bibi Nazia Murtaza1,2, Azhar Qayum3, Shamaila Inayat Nadeem1, Naif Awdh Al-Maliki4, Abdulaziz Alamri4 and Abdul Rauf Shakoori2,5,*
...ed. The most common Kras mutations are found in codon 12 and 13 and 61. Some other noncanonical mutations have been reported in codon 11, 14, 15, 17, 18, 19, 20, 22, 27, 30, 31, 117, 146 and 154. We aimed to demonstrate the conformational changes induced in two novel K RAS variants, p.E31K and p.G138V, identified in two CRC patients, which may account for transformative capacity by biochemical and signalling readouts in thes...
SiRui Wang1,2, Fekede Regasa Joka1,2, XiaoLong Wang1,2,* and SuYing Bai2,*
...found with 60 nucleotide mutations. Phylogenetic analysis by MEGA 7.0 revealed that the evolution of the tested genes is consistent with the evolution of the tested birds. The results of the selection stress test show that only a few sites in the GED region of the Mx gene are positively selected during evolution, and the majority of the amino acid sites are constrained by the strong structure and function of the protein, indicating a high risk of avian ...
Asma Yousafzai1,*, Muhammad Luqman2, Nisar Ahmed1, Muneeza Arbab1,Muhammad Murad1, Naheed Sajjad3, Sara Naudhani1, Shakeela Daud1, Abdul Hameed Baloch4, Khushnaseeb5, Sana Zahoor6, Zahid Rauf7, Muhammad Mohsin Javed6 and Jamil Ahmad1
Farah Bilal*, Abdulmohsen Alhejaily, Shahida Husnain
...ile p.E545K rarely found mutations in PIK3CA gene in NSCLC population. Present study can be proved as road map in setting PIK3CA mutations as potential therapeutics target for NSCLC in non-smokers.
...
Aqsa Javaid and Nageen Hussain*
...of tolerance can lead to mutations in this gene. The main objective of this project was to analyze the possible mutation especially in FOXP3 gene exon 1 that may clarify the reason of reduction of T regulatory cells (Tregs) due to HIV/AIDS. A total of 25 HIV patients were chosen from the Institute of Public Health on the basis of confirm HIV infection and 25 healthy controls as well. First genomic DNA was extracted from the peripheral blood and then amp...
Gul Afshan1,2,*, Soumble Zulfiqar2, Sumaira Mehboob2, Muhammad Tahir Javed Khan1 and Abdul Rauf Shakoori2,*
...total of 140 (11%) point mutations were found in Pakistan’s gene sequence, out of which general and specific differences were 93 (9%) and 47 (4%), respectively. The general differences usually occur in common population while the specific differences are present only in some cases. The 3D structure of E2 was determined. Protein docking with appropriate ligand revealed that V342 and L349 residues were involved in the ligand binding. Interaction of HCV3a i...
Tasleem Akhtar1,2,Ghazanfar Ali1,*, Nuzhat Shafi2 and Abdul Rauf2
...t the excess of external mutations. Results indicate that 16S rRNA gene is unable to fully resolve the inter-relationship of Schizothoracinae species.
...
Hafiza Sadaf Zahra1, Asia Iqbal2, Sayyeda Hira Hassan1, Hafiz Abdullah Shakir1*, Muhammad Khan1*, Muhammad Irfan3, Chaman Ara1, Shaukat Ali4
...due to inherited genetic mutations while remaining 90% cancer cases are associated with environmental factors. Artificial light at night (ALAN) is considered one of the major environmental risk factors for breast cancer. It inhibits production of melatonin (MLT) from pineal gland which results in abnormal epigenetic changes that relates with an increased risk of BC. The most important ALAN-mediated epigenetic changes include methylation of DNA and acetylation ...
Bibi Nazia Murtaza1, Mazhar Saeed Chaudry2, Shamaila Inayat Nadeem1, Muhammad Shahid Nadeem3 and Abdul Rauf Shakoori4,*
...ncers. Number of somatic mutations in several genes, majority of which are involved in chromatin modification and transcriptional regulation, have been reported in NHL. G468R and G468A mutations in BRAF gene have been reported in NHL, BRAF is a member of RAS mediated MAPK pathway. In current study, hot spots of Kras gene were analysed in a 40 years old male patient, presented with NHL located in ascending ...
Tong Feng, Zilu Zhang, Minghao Qu, Chan Luo, Laiba Shafique, Qingyou Liu and Kuiqing Cui*
...did not cause amino acid mutations; base A/G mutations occurred at position 712 and caused amino acid mutations in pure black and brown goat samples, which were mutated from tryptophan to cysteine. The results of this study have important reference significance for the future correlation analysis between MC1R gene and Nubian goat wool color traits and the color genetic mechanism of Nubian ...
Peng Ren1, Xian-Qing Liu1, Chao-Wu Yang2,3, Hua-Rui Du2,3, Xiao-Song Jiang2,3 and Yi-Ping Liu1*
...s, including three novel mutations [SNP4 (A4812316G), SNP6 (C4813363A) and SNP7 (C4813618T)] and five known loci, were found within 3292 bp sequenced fragments. The allele frequency and genotype frequency of SNP4 (A4812316G) were found to be significantly different (P<0.05) between the case and control groups. However, no significant differences were found in the haplotypes of SNP1 and SNP2 (P>0.05). These results suggest that SNP4 (A481231...
Mohammad Aquil Siddiqui1*, Muhammad Tahir Khan1, Ghulam Shah Nizamani1, Shafquat Yasmeen1, Imtiaz Ahmed Khan1, Abdullah Khatri1 and Nighat Seema Soomro2
...align: justify;">Induced mutations play paramount role in manipulating the genetic structure of the plants as an indispensable tool for crop improvement. This field study was initiated to evaluate three potential mutant lines of lentil against their parent (M-85) and two check varieties (NIA-Masoor-05 and NIA-Masoor-16). The pooled data of the crop, after two years of evaluation, indicated the earliest maturity in the mutant AEL-40/30 (92.0 days). Plant height...
Wenping Hu1, Xiangyu Wang1, Xiaodi Sun2, Ran Di1, Qiuyue Liu1, Zhangyuan Pan1, Xiaofei Guo1, Xiaohan Cao1, Jinyu Wang2, Yingjie Zhang3, Mei Jin4, Yuze Yang5 and Mingxing Chu1*
...ith estrus of sheep. Two mutations of TAC3 were found in intron 1 (C327T) and exon 2 (G1803A) separately. Although there were significant differences of C327T/G1803A genotype distributions in five different sheep breeds, it did not relate with the year-round estrus. The relationship between these polymorphisms of TAC3 and the litter size of Small Tail Han sheep was not found.
...
Guang-Hui Tan, Yi-Yu Zhang*, Yuan-Yu Qin, Lei Wu and Jie-Zhang Li
...etected two novel silent mutations, CDS 216 A>G and CDS 681 T>A in exon 2 and exon 3 of CYP7A1 gene, respectively, and both SNPs changed DNA single strand conformation. The A and T allele of CDS 216 A>G and CDS 681 T>A was dominant allele, and its frequency was 0.554 and 0.800, respectively. Each SNP resulted in three genotypes. The genotypic distribution of CDS 216 A>G and CDS 681 T>A was not deviated and deviated from Hardy-Weinberg equilib...
Muhammad Khan1, Tehmina Ameer Khan1, Aziz Ud Din2, Muhammad Fiaz Khan1, Irfan Ullah3,*, Kalim Ullah4, Sadia Tabassum1,*
...ion-No. N_012920.1. Four mutations in 16S-rRNA gene have been identified viz mt-2552T>A, mt-1811A>G, mt-1888A>G and mt-2467A>T and two are novel, mt- 2552T>A and mt-2467A>T while others have been previously reported, in patients of German and French population. For the first time, the mt-1888A>G and mt-1811A>G mutation in MT-RNR2 gene have been observed in patients of HCM in the Pakistani population and even not found in t...
Yan Zhou1,2, Hai Xia Han1,2, Qiu Xia Lei1,2, Jin Bo Gao1,2, Wei Liu1,2, Fu Wei Li1,2, Jie Liu1,2 and Ding Guo Cao1,2*
...s based on three genetic mutations (NC_006127.2:g.8467G>A, NC_006127.2:g.12321G>A and NC_006127.2:g.13876A>G) were constructed, and the associations of diplotypes with reproduction traits were assessed, their effects on gene expression were evaluated also. As a result, three haplotypes H1 (G-G-A), H2 (G-G-G) and H3 (A-A-G) were obtained, H1 was the main haplotype with a frequency of 91.75%. The correlation analysis showed that diplotypes (H1H1, H2H2 a...
Moazam Ali1, Wajid Ali2, Ayhan Ceyhan2 and Zeeshan Ahmad Bhutta3*
Pigmentation Genome Influence in Animals and Human Interventions in its Course of Action
...on can be predicted with mutations on genetic asset and production factors. The human desire of keeping variated colored animals advanced the genetic field as in many species (sheep, cattle, horses, camels, dogs, cats, pigs) new variants of coat pigmentation are achieved by generating mutation in MC1R and ASIP allele. A row of scientists is working on genome sequences and mutations for getting a better and healthier pigmenta...
Muhammad Zahid Mengal1, Hamida Ali2, Raheela Asmat3, Muhammad Naeem1,4, Ferhat Abbas1, Abdul Samad1, Mohammad Zahid Mustafa1, Jannat Raza2 and Tauseef M. Asmat1*
...ect RIF-resistant TB and mutations in RNA polymerase beta (rpoB) gene of M. tuberculosis within 81-bp RRDR in Quetta, Pakistan using GeneXpert® MTB/RIF assay.In total, 2300 clinical specimens were collected from suspected TB patients at Fatima Jinnah General and Chest Hospital Quetta, Pakistan between January and August 2017. These specimens were analyzed by GeneXpert® MTB/RIF assay. The data was statistically analyz...
Ghulam Akbar1*, Ali Ahmad2, Neha Arooj1, Muhammad Anjum Zia1, Aamna Rafique1, Sania Riasat1, Mohsin Raza1, Mahpara Qamar1, Shahneela Nusrat1 and Shakila Hanif1
Critical Update for the Treatment of Anemia by using Advanced Genome Editing Crispr Cas Technology
...ade feasible to accurate mutations in human genome. A site oriented specific break in double stranded DNA is induced by CRISPR/Cas9, whereas different oligonucleotides are provided to make accurate DNA template for genome correction. It is of importance to knowledge about types of CRISPR to treat anemia. Cas 9 showed one of best gene editing reactions than others. Recent data gives authentic applications of CRISPR use in anemia which provides potential for usa...
Kecheng Zhu1,2,3, Peiying He1, Baosuo Liu1,2,3, Huayang Guo1,2,3, Nan Zhang1,2,3, Liang Guo1,2,3, Shigui Jiang1,2,3 and Dianchang Zhang1,2,3,*
...ing progressive deletion mutations of Almyomaker. The results of promoter activity assays show that Almyomaker expression is notably activated by two MyoDs. Transcriptional activity of the Almyomaker promoter was observed to dramatically decrease after targeted mutation of the MyoD1 M1 and MyoD2 M2 binding sites. In summary, MyoD1 and MyoD2 play an important role in the regulationof Almyomaker expression and may promote myoblast fus...
Saima Yaqub1, Tahir Yaqub1*, Muhammad Zubair Shabbir2, Asif Nadeem3, Aziz-Ul-Rahman1, Muhammad Furqan Shahid1, Zarfishan Tahir4 and Nadia Mukhtar4
...cessory (N88D, L89V) PIs mutations in the protease region while four NRTI (D67T, K70R/Q, M184V and T215F) and four NNRTI (V108T, E138A, V179I and Y181C) mutations in the reverse transcriptase region were observed. The present study concludes circulation of multiple subtypes of HIV-1 among IDUs and a continuous disease surveillance coupled with delineation of disease risk factors may provide a crucial insight into HIV prevent...
Muhammad Ajmal1, Saima Mustafa1, Fizza Ibrahim Bajwa1, Cheng Zhou2, Guangdong Wen2, Soe Lwin Myint2, Syed Irfan Raza3, Ihtasham Bukhari4, Mubashir Hassan5, Muhammad Faisal6 and Furhan Iqbal1*
...ozygous for the reported mutations or they lacked this mutation.
...
Amreen Zahra1, Mushtaq A. Saleem1*, Hasnain Javed2, Muhammad Azmat Ullah Khan3, Muhammad Naveed1 and Abdul Rauf Shakoori4
...s the most hypervirulent mutations. This induces a selection pressure and a rate of increased virulency on Gag-Pol cleavage sites. These results significantly highlight the fact that the identified SNPs possibly contribute towards a positive selection pressure contributing to the identification of novel mutations like S61A, S61M and M90L at Gag-Pol cleavage sites harboring dominant drug resistance mu...
Maria Qibtia1, Muhammad Wasim1, Farzana Chowdhary1, Muhammad Tayyab1, Sehrish Faryal1, Ahmed Mansouri2, Zeeshan Ahmad2, Muhammad Hamid3 and Ali Raza Awan1,*
...or the identification of mutations in the LCT-gene. In comparison of 30 subject with lactose persistence (LP) considered as healthy group. A total of 13 genomic mutations were identified, 1 in the promoter region and 12 in the intronic/exonic region of LCT-gene. Among these 12 mutations, 6 of them are novel in origin. The novel mutations we...
Amal Mahmoud1&2 and Medhat H. Hashem3
...onfirm the role of these mutations in the development of HCC....
Fawzy Rania1, AboElkhair M.1, Bazid A.M.1, Sultan H.2, Hussien A.H.3
...ry. A mixture of genetic mutations and or recombination events has been occurred during replication of coronaviruses including IBV which called quasispecies. Serotypic and or genotypic classification of IBV is mainly based on the S1 subunit of Spike (S) gene. In the present study, thirty tracheal samples of broiler flocks suspected to be infected with IBV were collected from different Egyptian governorates during 2012. Isolation and genetic characterizations w...
Niaz Muhammad1, Samina Yasin1, Zunaira Fatima1, Noor ul Ain1,
Muhammad Faizan2 and Sadaf Naz1*
...caused by de novo mutations in FGFR3. This study was aimed to determine the common variants of FGFR3 in one inherited, and eighteen sporadic cases of achondroplasia from Pakistan. Sanger sequencing analysis of FGFR3 exon 9 revealed that more than 90%cases had the c.1138G>A p.(Gly380Arg) variant. Our results suggest that c.1138G>A variant is the most common cause of achondroplasia in Pakistan, a finding which is similar to that...
Shoaib ur Rehman1, Jabbar Khan2*, Raaza Malja Khan3, Maimoona Azam4 and Zeeshan Mutahir5
...disease characterized by mutations on the HBB gene, affecting the production of globin that results in hypochromic and microcytic anemia. The objective of this study was to determine the prevalence of six common β-thal mutations, their frequency, consanguinity in parents and inheritance pattern in patients of Karak region, Khyber Pakhunkhwa (KP) province, Pakistan. During the study, 200 peripheral blood samples were col...
Rehman Shahzad1, Saba Irshad1* and Faisal Amin2
...gs demonstrated that new mutations are emerging in B2 sub-lineage and there is need for constant surveillance of evolving genome of H9N2 virus prevailing in the country to combat the future challenges of avian influenza out breaks in Pakistan....
Rehman Shahzad1, Saba Irshad1*, Malik Saddique Mehmood1 and Faisal Amin2
...and sequenced to analyze mutations in this viral segment. Phylogenetic tree analysis showed sequences from 2015 to 2017 form a single evolving clade. Valdar residues conservation scores by multiple sequence alignment showed the C terminal region of NEP protein is conserved while C terminal region of effector domain (ED) of NSI protein exhibit mutations. These mutations are enhancing the to...
Muhammad Waqas1, Naveed Ahmed2*, Hamid Saeed Malik1, Unaiza Qamar3, Hasnain Javed4 and Ahsan Hussain1
...uncommon/uncharacterized mutations that are IVS 1-5 (G-C), Fr8-9 (+G), Fr 41-42 and Cd 5 mutations of β-thalassemia traits. A total 293 β-thalassemia carrier patients were included in study. Fr 8-9 (+G) was found the most common mutation of β-thalassemia carrier patients in the population which was 112 (38.2%), followed by IVS1-5 (G-C) which was 82 (28%), Fr41-42 which was 24 (8.2%), Cd 5 which was 20 (6.8%) a...
Hadia Gul1, Abdul Haleem Shah1, Ricardo Harripaul2, Anna Mikhailov2, Ejaz Ullah Khan3, Wasim Shah3, Nisar Ahmad3, John B Vincent2,4 and Muzammil Ahmad Khan3*
...regate TYR and OCA2 gene mutations. In the present study we aimed to investigate the genetic factor of OCA in a consanguineous family from Pakistan. Genetic analysis was performed through microarray genotyping and homozygosity-by-descent (HBD) mapping, whole exome sequencing (for mutation identification) and Sanger sequencing (for variant segregation). Homozygosity analysis revealed a 1.2 Mb HBD region on chromosome 15 between markers rs4778147 to rs8036234 (c...
Amtul Jamil Sami*, Sehrish Bilal and Syeda Anum Zahra
... reports have identified mutations in GH gene that are associated with animal productivity. The bovine GH has been studied quite thoroughly but very little information regarding Buffalo growth hormone is available in literature. Buffalo is an important source of milk in Asia and there is a need to identify variations in the genes of buffalo GH and its possible effects in milk production. The present research was carried out to explore DNA polymorphism in buffa...
Saima Mustafa1, Firdous Bukhari1, Muhammad Nazar Aftab1, Muhammad Asif1, Muhammad Amjad1, Maryam Ijaz1, Muhammad Latif2 and Furhan Iqbal1*
...sorder caused by COL10A1 mutations and is characterized by short stature, waddling gait, coxa vara and bowing of the long bones. A large family from Southern Punjab in Pakistan suffering from MCDS following autosomal dominant mode of inheritance were enrolled in present study. Whole exome sequencing (WES) approach was adopted to identify causative agent of dwarfism that reveled a previously reported a missense mutation (c.2011 A > G, p....
Asli Salcioglu
...itionally, the number of mutations and high values of sequence divergences were useful in differentiating the three different Spicara....
Ejaz Ali and Nageen Hussain*
...search aimed to find out mutations in the GJB2 gene and its protein structure. Both control and patient samples were collected from Gilgit-Baltistan for DNA isolation and PCR was done by using a specific primer while sequencing was done by Sanger sequencing. Mutations were detected by Mutation Surveyor and BLAST. Protein structures of both control and mutated samples were constructed by PHYRE2 and visualized by the software ...
Roshana Mukhtar1, Shaheen Shahzad1*, Sajid Rashid2, Maryam Rozi2, Madiha Rasheed3, Imran Afzal4 and Pakeeza Arzoo Shaiq5
...g to identify pathogenic mutations in UROS gene. Sequence analysis revealed a pathogenic missense mutation (c.935T>C [p. L237P]) in the exon 10.The sequence was further analysed in-silico to determine the effect of pathogenic mutation on protein structure. In-silico analysis and comparison between UROSL237P and UROSWT 3-dimensional structures revealed remarkable changes in the binding site of Urogen (3-[7, 12, 18-tris (2-carboxyethyl)-3, 8, 13, 17-tetrakis ...
Zaniar A. Abas1, Mohammed Omer Baba Sheikh2,5*, Hardi N. Aziz3, Omed I. Abid4
...eral unique and existing mutations have been discovered, indicating the emergence of CPV-2c variation in Iraq. Genetic differentiation study based on the genetic variation on the VP2 gene has shown that (CPV-2/Sul) strain belongs to new CPV-2b and CPV-2c, however, the (CPV-2/Erbil & CPV-2/krk) strains belong to new CPV-2a. A Phylogenetic tree constructed basis on the VP2 gene revealed that the field virus sequences from the present study were divided...
Chandni Wajid1, Abdul Hameed Baloch1, Ahmed Nawaz Khosa1*, Hubdar Ali Kaleri2, Nasrullah Bangulzai1, Sarfraz Ali Fazlani1, Haleema Sadia3, Saeeda Kalsoom4, Muhammad Bilawal Arain2, Wassem Ali Vistro2
... frame shift and 4-point mutations with c.63G>A, c.83G>A, c.94G>T, c.104C>G, c.237G>A, c.432T>C and c.450C>T were observed in all three exons of PROP1 gene of Balochi, Bibrik, Harnai and Rakhshani sheep breed of Balochistan. The phenotypic variation related to wool production traits including the fleece weight and wool color with diverse pigmentation and genetic variations observed in the coding region of the PROP1 gene. This study indicat...
Hend K. Sorour, Mohammed A. M. Saleh, Azhar G. Shalaby*
...tes to detect mcr-1 gene mutations and relationships. The percentage of isolated E. coli was 25.5%. All isolates showed resistance to colistin in disc-diffusion assay, while in MIC (minimum inhibitory concentration) method 68.8% exhibited resistance. Colistin was recorded as 33.7% in chicken breast by HPLC. Furthermore, mcr-1gene was detected 54% using PCR. Sanger sequencing revealed the same identity (100%) between the three examined strains despite coming fr...
Muneeza Zafar1,2,3, Fazli Rabbi Awan2,*, Munazza Raza Mirza3,*, Sumaira Nishat2,4, Sajid Ali Rajput5 and Imran Riaz Malik1,*
...d LDL-cholesterol. Point mutations in APOB may lead to change in protein stereochemistry, which may result in premature coronary artery disease, familial hypobetalipoproteinemia, hypocholesterolemia, mono-genic dyslipisimias and other atherogenic events in CVD. Here we evaluated the impact of all missense and non-coding single nucleotide polymorphisms (SNPs) of APOB retrieved from dbSNP using 17 different computational tools and further evaluated the structura...
Amreen Zahra1*, Mushtaq A. Saleem2, Hasnain Javed3, Muhammad Azmat Ullah Khan4 and Abdul Rauf Shakoori4
... Gujrat. Drug resistance mutations such as T12A, I13A, K14R, I15V, K20I, T31S, E35D, M36I, N37D, R41K, K43X, R57K, Q61H, H69K, K70R and L89M were observed across several sites across the whole length of PR region among the isolates. A significant accessory resistance mutation V32I conferring a low level of resistance against non-nucleoside reverse transcriptase inhibitors was observed among two isolates. This kind of genotypic pattern demonstrated a striking e...
Zeinab R. Aboezz1*, Ayman S. El-Habbaa1, Rania S. El-Mohamady2, Samia A. Elnagar2, Ehab M. El-Nahas1
... Italy. Multiple area of mutations a long 5′ UTR amplicon, were observed by alignment of BVDV- Egypt-020-1ncp BVDV-Egypt-020-3ncp and BVDV-Egypt-020-2ncp.While Npro based detection was not succeeded to detect our HoBi-like Pestivirus in original samples or even in viral isolate despite their ability to amplify the BVDV RNA of reference strain (NDAL). Precisely, this study provides the first evidence of HoBi-like pestivirus infection in Egypt, raising pro...
Alicja Kowalczyk1*, Inga Kowalewska-Łuczak2, Ewa Czerniawska-Piątkowska3*, Jesús Juan Cantalapiedra4, Joaquim Orlando Lima Cerqueira5,6 and José Pedro Pinto de Araújo5,7
...responsible for missense mutations. Individual genotypes were determined using the PCR-RFLP method. Evaluation of sperm quality in terms of concentration, volume, motility, and sperm viability was performed using photometry, flow cytometry, and a computer assisted sperm analyzer. The above studies indicate that all four nucleotide substitutions analyzed in exon 4 of AQP7 gene affect the individual quality characteristics of the analyzed semen of Holstein-Fries...
Tinda Afriani*, Endang Purwati, Yurnalis, Jaswandi, Mangku Mundana, Adisti Rastosari, Anna Farhana
...e were 3 transition type mutations (at positions 8, 213 and +252) and 2 transversion type mutations (at positions +49 and +232). Based on the result of this study, it can be stated that the genotype frequency of Pesisir cattle population was not in the Hardy-Weinberg equilibrium.
Keywords | SNP, FSHR gene, Pesisir cattle, DNA isolation, single nucleotide polymorphism
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Asma Basharat1, Abdul Wajid2*, Andleeb Batool1, Tayyeba Batool3, Abdul Basit4, Kamran Abbas5, Aziz Ullah1 and Mahmood Shaukat6
Saba Rehman1, Faisal Salih Hayat1, Sadia Norin2, Abdul Aziz1, Siddiq Ur Rahman1* and Noor ul Haq1*
...ncern (VOCs) have shared mutations in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The spike proteins of the novel coronavirus located mostly on the S1 unit result in a higher transmissibility rate and affect the viral virulence and clinical outcome. The spike protein and other non-structural protein mutations in VOCs may lead to escape the approved vaccinations. Here the VOC mutatio...
Maskur1*, Muhammad Muhsinin1, Sulaiman Ngongu Depamede2
... that the FecXG and FecB mutations were associated with litter size in Kacang and Boerka goat breeds. The FecXG has two genotypes in both Kacang and Boerka goats, namely homozygote wild type ++ and heterozygote mutant carrier G+ with a litter size of 1.56 and 1.65 (Kacang); 1.61 and 1.75 (Boerka), respectively. Meanwhile, FecB mutations produce three genotypes: homozygote wild type ++, heterozygote mutant carrier B+ and homo...
Mohsin Shad1, Muhammad Usman2 and Qurratulann Afza Gardner1*
Amthal Ahmed Fouad1, Basem Mohamed Ahmed2, Momtaz Abdelhady Shahein1, Hussein Aly Hussein2*
... and five non-synonymous mutations were evident in the protein genes. Deletions and insertions were observed in the intergenic spaces. It was highly similar to Egyptian RABV genomes and clustered within the Africa-4 (AF4) lineage of the cosmopolitan clade. It was submitted to NCBI GenBank under the access number OL314495. Conclusion: The study provides analysis for the 5EG-QH19 wild-type RABV genome, elucidates some key structural features of the AF4 lineage d...
Akram Ali Baloch1*, Adeel Ahmad2, Kaleem U. Kakar3, Sara Naudhani1, Samiullah Khan1, Agha Muhammad Raza3, Imrana Niaz Sultan1, Humaira Zahid4, Saadullah3 and Shakeela Daud1*
..., two different missense mutations (c.830C>A resulting p.Ala277Glu and c.332C>T resulting p.Pro111Leu) in affected individuals in two of the families were identified. The nonexistence of mutations in EPM2B in the other two families could be due to presence of mutations in noncoding or non-tested loci/genes. This study may facilitate in finding prevalence of lafora disease in Balochis...
Dhurgham K. Seger1, Rahman H. H. Al Qasimi2, Azhar A. Jaffar3, Salah H. Faraj4, Ahmed I. Ateya5*
...ology was used to detect mutations in SSTR1 gene. The results of the multiple alignment analysis of the sequence of SSTR1 gene indicated the presence of one mutation 264 A>G. The obtained mutation produced three genotypes, namely AA, AG, and GG. The frequency of the genotypes AA, AG and GG were 0.50, 0.17 and 0.33, respectively. While the frequency of the A and G alleles were 0.58 and 0.42, respectively. There were significant impacts of SSTR1 gene polymorp...
Zhi Qiang Gao*, Dan Dan Zhang, Qin Gmei Qin, Xiu Xiu Li, Li Li, Yan Zhong Xue and Shifeng Guo
...esent in GNTs with PSEN1 mutations versus wilds (P = 0.001), but there was no clear correlation between PSEN1 and clinical manifestations like age of seizure, operative age, duration and absence of seizures after surgery. To conclude, PSEN1 E280A mutation is present in GNTs seizures patients, and greatly associated with multiple types of seizures and gender. The requirement of larger sample studies and long-term follow-up is implemented for further confirmatio...
Muhammad Javed Iqbal1, Farah Rauf Shakoori1*, Bushra Muneer2 and Abdul Rauf Shakoori3
...ting factors and genetic mutations, in associated genes (PIK3CA, AKT1, MTOR and PTEN), lead this pathway to function abnormally to trigger breast cancer. The mutations in these genes were explored in female patients with breast cancer. The demographic studies showed that all the patients were married, housewives with an average age of 47 years. The invasive ductal and invasive lobular carcinoma were detected in 85% and 15% o...
Elkalamawyl, I.M.; Elhddadl, S.; Swelim2, M.A.; Hamdy2, S.M. and Fahmy3, Hanan A.•
... in the observation that mutations in the surface antigen coding region can change the immunodominant region structure and therefore alter the group specific determinant antigenicity. Phylogenetic tree based on I-BsAg partial nucleotide sequence was displayed. In conclusion, by understanding the HBsAg major immunodominant region nucleotide sequence, highly sensitive diagnostic assays can be achieved for detection of HBV in clinical specimens. Control of these ...
El-Sayed • l , Eman H; Mahfouze , Sherin A.; Shaltout ,A. D.; El-Dougdoug3 ,Kh. A. and Sayed1 , R. A.
... mutagens such as create mutations in the genome of plants. Selection of plant mutants is based on morphological and ISSR-PCR markers. The DNA based marker is reliable and reproducible for mutant selection for BBTV and BMV resistance banana plants used in the study. Explants from shoot apical meristem were cultured on MS-medium supplemented with different concentrations of 2, 4-D (2, 4 and 6 mg/l) 6-Benzylaminopurine (6, 7 and 8 mg/l), and Sodium Aide ranging ...
Ashraf M. Metwally*, Ausama A. Yousif*k , Iman B. Walaa A. Attia M. Samy * , and Ismail M. Reda *
...ulent IBDV (vvIBDV). The mutations reported in Giza2008 demonstrate that Egyptian field viruses are isolating from their European ancestors. Some of the aa mutations have lead to a change in some of the exposed regions of the viral protein. Our findings explain the continued presence of vvIBDV in intensively vaccinated flocks....
Seham A. El-Zeedy1, Dalia A. Abd El-Moaty1, H. A. Hussein2 and M. A. Shalaby2
...n Egypt still undergoing mutations....
Rawaa Saladdin Jumaa
...d that the gene has some mutations (nonsense and missense) and is highly conserved among pigeon poxvirus isolates. The phylogenetic analysis revealed that the P4b gene of Iraqi isolates was related to the (Egypt strain) (99% similarity). Phylogenetic analysis shown that the P4b gene of an avipoxvirus obtained from an infected pigeon was classified as a pigeon poxvirus. The conclude of this study: The main findings that demonstrate the typical characteristic of...
Tinda Afriani1*, Jaswandi1, Yurnalis1, Putri Oktavially1, I Made Merdana2
...e GH gene found 14 point mutations, including six transversions, namely, C>G 1343 bp, T>G 1376 bp, C>A 1438 bp, G>C 1570 bp, A>C 1720 bp, and G>A 1744 bp. Additionally, seven transitional mutations were detected, including G>A 1359 bp, T>C 1409 bp A>G 1454 bp, G>A 1485 bp, G>A 1506 bp, G>A 1538 bp, C>T 1659 bp, and one insertion C 1838 pb. This study found two alleles and three genotype...
