Javeria1, Masroor Ellahi Babar2,*, Tanveer Hussain2, Rashid Saif2, Sadaf Rashid3, Hanan Sarfraz4, Abbas Ali Shah3, Muhammad Wasim1 and Muhammad Abdullah1
...onine. We found only one homozygous and heterozygous carrier for this polymorphism. Healthy siblings of the carrier individuals and control group were screened and found as negative for this polymorphism. In-silico analysis through mutation taster, exon splicing enhancer and polyphin2 software predicted this polymorphism as a site broken and possibly damaging. These findings suggest that BDNF polymorphism Val66Met has some possible role in OCD development in P...
Zahid Latif1,*, Kathrin Blasius2-4, Tufail Hussain Tahir7, Muhammad Nasim Khan1, Ghazanfar Ali5, Ansar Ahmed Abbasi6, Abdul Rauf1, Hao Hu8 and Angela M. Kaindl2,3,4
...ng. This family showed a homozygous c.2536G>A mutation in CRB1 gene as an underlying pathogenic variant for non-syndromic autosomal recessive retinitis pigmentosa.
...
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
Saba Irshad*, Aruba Muhammad, Ammara Muazzam, Farah Sarfraz Anmol and Rehman Shahzad
...ened patients, sole Xmn1 homozygous (+/+) and heterozygous (-/+) case was reported with a band size of 418 bp, 230 bp and 641 bp, 418 bp, 230 bp respectively. Xmn1 restriction site was present at 158 bp upstream of the Gamma globin gene on chromosome 11 of positive patients (GenBank KY927385). Fetal hemoglobin level in Xmn1 (-/+) and (+/+) was 59.1% and 19% respectively which minimize their transfusion frequency to 30 days in comparison to 7-15 days in Xmn1 -/...
Syeda Ain-ul-Batool1, Sadia1, Kathrin Blasius2,3,4, Angela Kaindl2,3,4 and Ghazanfar Ali1,*
Hafiz Suboor ul Hassan and Saira Malik*
...erant individuals showed homozygous LCT-13910CC genotype and 16.66% showed heterozygous CT genotype. For LCT-22018G/A, 43.75% lactose intolerant individuals showed homozygous GG genotype, while 43.58% patients showed heterozygous GA genotype. Thus, different variants of genotype -13910T/C and -22018G/A of the individuals were found to be associated with the development of lactose intolerance in patients of the studied popula...
Sajida Rasool1, Saba Irshad1*, Neelam Saba1, Mehak Fiaz1, Muhammad Sajid Hussain2, MuhammadWajid Hussain3 and Peter Nürnberg2
...uencing revealed a novel homozygous nonsense mutation (c.204T>G) in BICD2 gene which was predicted to yield a truncated protein product (p. Glu68*). This is first nonsense mutation being reported causing HSP with complex clinical features and early onset. Further, functional exploration will be required for genotype phenotype correlation.
...
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*
... as all the patients are homozygous for the mutation while parents were heterozygous and unaffected siblings from both families were either heterozygous for the reported mutations or they lacked this mutation.
... 
Mai A. Kilany1; Hanaa H.A. Gomaa1; Yousry E. Abo El-magd2 and Nermin Raafat2.
...m (PCR-RFLP) method. The homozygous Ala/Ala (CC) was significantly more frequent in HCV-related HCC patients com-pared to HCV-infected patients and control group (67.5%, 12%, and 15% respective-ly, p ˂ 0.05). Moreover, the C allele was more often associated with HCV-related HCC patients compared to HCV-infected patients and control group (50%, 10%, and 15% respectively, p ˂ 0.05). MnSOD activity was significantly higher in HCV-related HCC patients and HCV-in...
Mohammad Aquil Siddiqui1*, Muhammad Mahran Aslam1, Mahboob Ali Sial1, Nighat Seema Soomro1, Muhammad Tahir Khan1, Shafquat Yasmeen1, Shumaila Sial2 and Imtiaz Ahmad Khan1
... population and advanced homozygous mutant progenies during 2004-05 for yield evaluation in zonal varietal trials and the national uniform rapeseed yield trials (NURYT). The resultant variety exhibited the highest seed yield (2826 kg ha-1) in NURYT compared to other contesting advanced genotypes during 2008-09. Surhan-2012 was performed better for seed yield (1460.8 kg ha- 1) as compared to parent genotype (800kg/ha seed yield) in advanced station yield trials...
Jarosław Pytlewski1, Ireneusz R. Antkowiak1 and Ewa Czerniawska-Piątkowska2*
...ults were found for homozygous (+,+) animals. The mutation in 6 exons 6 proved particularly interesting (c.1178G>A), and the GG genotype was the most advantageous genetic variant.
...
Mudassar Jehan1, Masroor Ahmed Bajwa2, Mohammad Masood Tariq2, Asim Faraz3*, Abdul Samaad2, Jameel Ahmad1 and Yousaf Hassan Barozai2
...son behind prevalence of homozygous population might be inbreeding as only few rams had been used for breeding the flocks. This study would provide basis for breed characterization and lead to breed improvement program....
Muhammad Ismail1, Jabbar Khan1*, Zahid Rauf2, Khalid Khan3 and Muhammad Rafi1
...Nine patients were found homozygous and 8 were heterozygous for minor allele while 1 patient was carrying major allele. For rs2234693, all the patients were carrying major allele. All the normal individuals were lacking the above stated 2 SNPs. There is thus strong correlation between SNPs of ESR1 gene and breast cancer and hence, can be used as a significant marker in the determination of breast cancer....
Muhammad Ikram Ullah
...s carried out, and three homozygous regions were identified. Whole exome sequencing was carried out to identify the mutation in putative gene/s. The data was arranged, and MAN2B1 was selected for the DNA sequencing. Protein homology was analyzed by the pymol tool to predict the effect on the mutant protein. A novel missense mutation c. 2710A>T; p.904Tyr>Ser was detected, and co-segregation analysis was established in the complex neurological family. The ...
Humera Manzoor1,2,5 Norbert Brüggemann2,3, Hafiz Muhammad Jafar Hussain1, Tobias Bäumer2, Frauke Hinrichs2, Muhammad Wajid4, Alexander Münchau2, Katja Lohmann2* and Sadaf Naz1*
...foot morphology. A novel homozygous missense variant in ECEL1 c.2051A>G, p.(Tyr684Cys) was identified in all three patients. The variant was absent from the DNA of 500 ethnically matched control samples as well as from all public databases. In conclusion, this study reports a family with clinical features of distal arthrogryposis type 5D and extends the genotype spectrum of the disorder. ...
Muhammad Aijaz1, Nasir Mahmood2, Ghulam Mujtaba3 and Imran Riaz Malik1*
...d that the prevalence of homozygous normal GG allele was 19%, heterozygous GA was 29% and homozygous mutant AA was 52% in breast cancer patients. However, in healthy individuals, GG allele was found in 70%, GA in 20%, and AA in 10% population. These findings proposed that the IL-10 gene (AA polymorphism) at the -1082 position is most prevalent in local breast cancer patients in Pakistan....
Skorykh Larisa Nikolayevna1*, Fominova Irina Olegovna1, Kovalenko Dmitriy Vadimovich1, Skokova Antonina Vladimirovna1, Dmitrik Irina Ivanovna1, Kizilova Natalia Igorevna2 and Violeta Caro Petrovic3
... for the CAST gene - the homozygous MM genotype (87.9%). These genotypes were correlated with quantitative and qualitative parameters of meat productivity. The best indicators of meat productivity were in the bright AB, BB, and MN genotypes of the growth hormon and calpastatin genes. The slaughter weight of individuals of the AB, BB genotype of the GH gene and the MN genotype of the CAST gene is higher by 6.3, 7.3, and 5.2%, respectively. According to the poin...
