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Abstract
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Article Information:
Mapping of Genes Involved in Bardet-Biedl Syndrome (BBS) in Pakistani Population
Shiraz Ahmad, Summera Tufail, Zubair Anwar, Hussain Mustatab Wahedi, Muhammad Abrar and Asif Mir
Corresponding Author: Asif Mir
Submitted: April 29, 2012
Accepted: May 26, 2012
Published: July 10, 2012 |
Abstract:
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Bardet-Biedl Syndrome (BBS), one of an autosomal recessive or clinically and genetically
heterogeneous disorder, which prevails all over the world and results due to increased rate of
consanguinity. All of these BBS genes are involved either directly or indirectly in signaling pathways such
as Leptin receptor signaling pathway and Wnt signaling pathway. The study presented here includes
genetic mapping of two consanguineous families (A & B) with BBS. (21.63-Mb) region was found to be
critical as it was gene rich and contains approximately eighty known and predicted genes. Out of eighty
genes six (FGF2, BBS7, BBS12, NUDT6, SPATA5 and SPRY1) were found to be candidate genes. On
mutations screening, sequencing of the coding exon 2 of BBS12 in affected individuals identified a novel
homozygous c.2103C 1 A mutation, which is predicted to insert a stop codon at position 701 of the BBS12
protein (p.S701X). Identification of BBS12 mutation in families B can increase our understanding of
molecular genetics and pathophysiology of BBS.
Key words: Chromosomal aberrations, consanguinity, pathophysiology, , , ,
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Cite this Reference:
Shiraz Ahmad, Summera Tufail, Zubair Anwar, Hussain Mustatab Wahedi, Muhammad Abrar and Asif Mir, . Mapping of Genes Involved in Bardet-Biedl Syndrome (BBS) in Pakistani Population. Current Research Journal of Biological Sciences, (4): 513-518.
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ISSN (Online): 2041-0778
ISSN (Print): 2041-076X |
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