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Linkage And Mutational Analysis Of Gene Lebercilin (Lca5) In Families With Leber Congenital Amaurosis

by Adeel Ahmad | Prof. Dr. Masroor Ellahi Babar | Dr. Abu Saeed | Mrs. Saeeda Kalsoom.

Material type: book Book; Format: print Publisher: 2012Dissertation note: Leber congenital amaurosis (LCA, MIM #204000) accounts for at least 5% of all retinal dystrophies and approximately 20% of children attending schools for the blind. LCA is the most severe retinal dystrophy causing blindness or severe visual impairment before the age of 1 year. Inheritance is autosomal recessive in most cases. Clinically, LCA is characterized by the presence of four key features, namely severe and early visual loss (usually around the age of 6 weeks), sensory nystagmus, amaurotic pupils, and minimal or absent responses on the electroretinogram (ERG). A total of five families (LA01-LA05) were enrolled, blood samples were collected and processed for DNA extraction. During linkage and genome scan, single family showed linkage to LCA5 locus. The diagnosis was established in all affected individuals by medical history, funduscopy, and standard ERG. We performed genome-wide linkage analysis for mapping the disease locus in this family. Congenitally severely reduced visual acuity and nystagmus were reported for all patients. LCA in the family cosegregated with homozygosity for a single nucleotide polymorphism (SNP) haplotype on chromosome 6p14.1. The respective candidate region contained Leber congenital amaurosis 5 (LCA5), a gene previously reported to underlie LCA; subsequently identified a novel truncating mutation in exon 4 of LCA5, c.642delC, in homozygous state in all affected persons of the family LA01. Here, a novel LCA5 mutation causing LCA in a Pakistani family is reported. Availability: Items available for loan: UVAS Library [Call number: 1518,T] (1).

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Association Of Myogenic Factor 5 (Myf5) Gene Polymophism With Meat Quantity And Quality Traits In Sahiwal

by Faiza Maqbool | Prof. Dr. Masroor Ellahi Babar | Dr. Abu Saeed Hashmi | Dr. Atif Hanif.

Material type: book Book; Format: print ; Literary form: drama Publisher: 2012Dissertation note: Pakistan has a large population of farm animals, which are consuming for many purposes. Livestock is the major source of money for any country. Livestock is the major machines and factories which convert roughage (grasses and shrubs etc.) into quality food i.e. Meat and milk. The Myf5 gene is a member of basic helix-loop-helix family of transcription factors which is involved in the regulation of myogenesis. Its main role in muscle growth, development, proliferation, muscle fibers formation and muscle functioning makes it a candidate gene for molecular marker of meat production in livestock. Myf5 gene in cattle has been mapped to chromosome 5 and has a length of 3236 bp (Gen Bank accession no. NC-007303). It consists of three exons and two introns. Exons have the lengths of 659, 76 and 1245bp. Role of Myf5 gene in muscle development and growth makes it a candidate gene for meat production in farm animals. In this study association of myogenic factor 5 (Myf5) gene polymorphism with meat quality and quantity traits in Sahiwal cattle was checked out. In this study blood samples were collected from Sahiwal cattle breeds and DNA was extracted from leukocytes. DNA amplification was done by PCR. Then sequencing of amplified gene was done by Genetic Sequencer. Allele frequencies and genotype frequencies were statistically analyzed by using SNPator software. The relationship between SNP marker genotypes of myogenic factor 5 (Myf5) gene with meat quality and quantity traits was evaluated by using SNPator software. This study will be a helpful tool for marker assisted selection of beef cattle. Availability: Items available for loan: UVAS Library [Call number: 1561,T] (1).

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Identification Of Polymorphisms In 6Th & 7Th Exons Of "Parkin Gene" And Their Relationship With Parkinson'S Disease.

by Sadaf Niaz | Prof. Dr. Masroor Ellahi Babar | Dr. Abu Saeed Hashmi | Dr. Aif Nadeem.

Material type: book Book; Format: print Publisher: 2013Dissertation note: Abstract Availability: Items available for loan: UVAS Library [Call number: 1638,T] (1).

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Study Of Candidate Genes Involved In Milk Production Traits For Identification Of Probable Biomarkers In Nili-Ravi Buffalo

by Maryam Javed | Prof. Dr. Masroor Ellahi Babar | Dr. Abu Saeed | Dr. Muhammad Wasim.

Material type: book Book; Format: print ; Literary form: not fiction Publisher: 2014Dissertation note: Abstract Availability: Items available for loan: UVAS Library [Call number: 2120,T] (1).

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