نتایج جستجو برای: consanguineous pakistani family
تعداد نتایج: 425994 فیلتر نتایج به سال:
objective(s): genetic analysis of two consanguineous pakistani families with localized autosomal recessive hypotrichosis was performed with the goal to establish genotype-phenotype correlation. materials and methods: genomic dna extraction had been done from peripheral blood samples. extracted dna was then subjected to pcr (polymerase chain reaction) for amplification. linkage analysis was perf...
PURPOSE To determine the genetic cause of Bardet-Biedl syndrome (BBS) in two consanguineous Pakistani families. METHODS Clinical characterization of the affected individuals in both families was performed with ophthalmic examination, electroretinography, electrocardiography, and liver and renal profiling. Seventeen genes are known to be associated with BBS, so exome sequencing was preferred o...
PURPOSE To investigate the genetic basis of autosomal recessive retinal degeneration in a large consanguineous family from Pakistan. METHODS Ophthalmic examinations were conducted on family members to establish their diagnosis. Genomic DNA extracted from peripheral blood was used for homozygosity mapping to discover the chromosomal region that harbors the defective gene. Direct sequence analy...
OBJECTIVES To identify the underlying gene mutation in a large consanguineous Pakistani family. Methods: This is an observational descriptive study carried out at the Department of Biochemistry, Shifa International Hospital, Quaid-i-Azam University, and Atta-ur-Rahman School of Applied Biosciences, National University of Sciences and Technology, Islamabad, Pakistan from 2013-2016. Genomic DNA ...
Lipoprotein lipase plays a major role in the regulation of lipid metabolism. The enzyme acts to hydrolyse triglycerides, providing free fatty acids for energy generation or storage, thus affecting the maturation of circulating lipoproteins. Biochemical and molecular analyses were performed on two siblings of consanguineous Pakistani origin, presenting with hyperchylomicronaemia, which revealed ...
Background: The previous studies carried out for STK39 revealed its association with EHTN, but the models of inheritance were not studied. Aims & Objective: We studied the SNP rs35929607 of STK39 in a Pakistani population on the subjects from consanguineous and non-consanguineous populations and looked at the inheritance patterns in both cohorts. Materials and Methods: This was cross sectional,...
The diagnosis of childhood neurological disorders remains challenging given the overlapping clinical presentation across subgroups and heterogeneous presentation within subgroups. To determine the underlying genetic cause of a severe neurological disorder in a large consanguineous Pakistani family presenting with severe scoliosis, anarthria and progressive neuromuscular degeneration, we perform...
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