Molecular variants of Bardet-Biedl Syndrome
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Hina Iqbal*, Hussain Mustatab Wahedi, Fauzia Yusuf Hafeez and Asif Mir
- چاپ و سال / کشور: 2010
Description
Bardet-Biedl Syndrome (BBS) is a genetically and clinically heterogeneous disorder clinically characterized by obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism and kidney structural abnormalities or functional impairment. Till now, 14 genes have been identified for BBS on different chromosomes, that is, 11q13 (BBS1), 16q21 (BBS2), 3p12 (BBS3), 15q22 (BBS4), 2q31 (BBS5), 20p12 (BBS6), 4q27 (BBS7), 14q32.11 (BBS8), 7p14 (BBS9), 12q21.2 (BBS10), 9q33.1 (BBS11), 4q27 (BBS12), 17q23 (BBS13), and 12q21.3 (BBS14). Genetic and mutational analysis has indicated that a combination of 3 mutant alleles at two loci is necessary for pathogenesity of BBS. Mutations in BBS genes have impact on different pathways. This study is helpful in generating the databank of disease related mutations and in controlling the disease by understanding the pathogenesis of disease.
Journal of Cell Biology and Genetics Vol. 1(1), pp. 1 - 11, August 2010 Available online http://www.academicjournals.org/JCBG ©2010 Academic Journals
