Waqar Islam*1, 2, Madiha Zaynab3, Muhammad Qasim2 and Zujian Wu1,2
... and host factor related recessive resistance are categorized as most beneficial plant defense approaches used by plants. The review also briefly explains about introgression of durable resistance to generate virus resistant cultivars for economically important crops through molecular breeding techniques via utilizing advanced molecular markers involving cis and trans genetics. The review adhere recent research findings regarding disease resistance against vir...
Mehran Kausar1,2, Naveed Ashraf3, Farzana Hayat4, Asraf Hussain Hashmi1, Saima Siddiqi1,* and Mariam Anees2
...65800) with an autosomal recessive mode of inheritance. 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 ca...
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
...ete blindness. Autosomal recessive mode of inheritance which contributes 20-25% of total known cases of RP, is almost the result of inbreed union or cousin marriages. In this study, a large consanguineous family with 11 affected individuals was recruited from Azad Jammu and Kashmir which was analyzed through linkage mapping and confirmed by Sanger sequencing. This family showed a homozygous c.2536G>A mutation in CRB1 gene as an underlying pathogenic variant...
Barkat Ali*, Muhammad Shahid Iqbal, Muhammad Kausar Nawaz Shah, Ghulam Shabbir** and Nasir Mahmood Cheema***
... CIM-497 carried maximum recessive genes for monopodial branches and plant height, PB-899 for bolls per plant and sympodial branches while ACALA-SJ-4 has maximum recessive genes for boll weight....
Sana Zahra
...pproximately 4.7-7.2% of recessive hereditary deafness in Pakistani population. 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 ...
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
...aly.
... 
Shagufta Naz*, Saima Sharif, Hafsa Badar, Syeda Fareeha Tauheed
...ophy (MCD), an autosomal recessive hereditary disease, slowly progresses punctate opacities in the cornea which result in bilateral loss of vision and leads to corneal transplantation. A cross-sectional, analytical study was carried out from August, 2015 to May, 2016 on and MCD patients were diagnosed by visiting different hospitals like, General Hospital, Al-Ehsan welfare Hospital, Mughal eye and Mayo Hospital with the help of ophthalmologist. The main purpos...
Syeda Ain-ul-Batool1, Sadia1, Kathrin Blasius2,3,4, Angela Kaindl2,3,4 and Ghazanfar Ali1,*
...BBS) is a rare autosomal recessive ciliopathic genetic disorder in humans. It is a multisystem disorder and is principally described by visual abnormalities, con-rod dystrophy, eyes exotropia, obesity, polydactyly, hypogonadism, and renal abnormalities. Few additional features of BBS also include delayed motor development, clumsiness, anosomia, ataxia, hypodontia, hearing impairment, hirschsprung disease, cardiovascular and liver disorders. So far 21 genes are...
Sajida Rasool1, Saba Irshad1*, Neelam Saba1, Mehak Fiaz1, Muhammad Sajid Hussain2, MuhammadWajid Hussain3 and Peter Nürnberg2
...penetrating in autosomal recessive pattern was ascertained. Patients presented spasticity and stiffness of upper and lower limbs, severe microcephaly, dysphagia, no speech, hearing loss and seizures. Genome wide linkage analysis and whole exome sequencing 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 HS...
Moazam Ali1, Wajid Ali2, Ayhan Ceyhan2 and Zeeshan Ahmad Bhutta3*
Pigmentation Genome Influence in Animals and Human Interventions in its Course of Action
...e blackish coat color, a recessive e allele represented red coat color and the E+ wild-type allele give a variety of colors. Variation in pigment production 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 ASI...
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*
...APL) is a rare autosomal recessive form of total alopecia, characterized by hair loss soon after birth and the development of papular lesions of keratin-filled cysts over extensive areas of the body. Two consanguineous families were enrolled from Basti Mochi Wala, Mouza Gulab Shah in Muzaffargarh District of Punjab (Pakistan) having multiple siblings suffering from alopecia. The aim of this study was to find out the genetic mutation(s) in hairless (HR) ...
Ejaz Ali and Nageen Hussain*
... unique for the study of recessive genetic diseases due to a higher rate of consanguinity and Hearing Loss (HL) is one of them that affects more than 466 million people worldwide; will increase to 900 million by 2050. GJB2 mutation is one of the main causes of hearing loss in different populations, including Pakistan, that encodes a gap junction protein involved in the homeostasis of the inner ear by recycling potassium ion. This research aimed to find out mut...
Roshana Mukhtar1, Shaheen Shahzad1*, Sajid Rashid2, Maryam Rozi2, Madiha Rasheed3, Imran Afzal4 and Pakeeza Arzoo Shaiq5
Akram Ali Baloch1*, Adeel Ahmad2, Kaleem U. Kakar3, Sara Naudhani1, Samiullah Khan1, Agha Muhammad Raza3, Imrana Niaz Sultan1, Humaira Zahid4, Saadullah3 and Shakeela Daud1*
...ora disease is autosomal recessive progressive myoclonus epilepsy (PME) with onset in teenage years of a progressively stubborn seizure disorder which brings declining mental function, dementia and finally death within ten years after the first symptoms. Lafora disease is defective in two well-known genes EPM2A and EPM2B. EPM2B (NHLRC1) consists of one large exon of 1188 bps. It encodes 395 amino acid protein called Malin comprising a zinc finger of the Ring-t...
Kristina Morkūnienė*, Rūta Insodaitė, Laimutis Kučinskas, Renata Bižienė
...ion analysis showed that recessive AA genotype of this polymorphism significantly reduced the odds for varroosis (odds ratio=0.166, 95% confidence interval = 0,049-0,562, p=0.004). SNP at position 7454459 (Asn → Thr) of the Mblk-1 gene has a prominent interface with resistance to varroosis. ...
