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Molecular Identification of Intron 2 Splice Mutation and 8bp Deletion in CYP21 Gene for Congenital Adrenal Hyperplasia (CAH) Patients in Kashmir (North India).

J Mol Genet Med.. 2016-03; 
MH Zargar,AA Pandith,TM Malla,S Akber,F Shehjar.
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Molecular Biology Tools ... generated were used to detect the 8 bp deletion and PCR was carried out in a final volume of 25 mL containing 50 ng genomic DNA template, 1x PCR buffer (Biotools, B & M Labs, Madrid, Spain) with 2 mmol/L MgCl 2 , 0.4 mmol/L of each primer (Genscript, Piscataway, NJ), 50 ... Get A Quote

摘要

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by alteration in CYP21 gene which ultimately leads to 21-hydroxylase deficiency. The present study aimed at evaluation of 2 common mutations viz, Intron 2 Splice (INT2S) mutation and 8 bp deletions in exon 3 of CYP21 gene and to establish their frequencies in Kashmir population (North India). The mutations were tested by Amplification Refractory Mutation System-PCR (ARMS-PCR) in 50 cases of CAH, proven by clinical features and raised 17-hydroxy progesterone (17OHP) levels.The results revealed that 15(30%) cases had INT2S mutation while as 8 bp deletion was not detected in any patient. In INT2S mutation, 7 cases were homozygous with I... More

关键词

Congenital adrenal hyperplasias; Mutation; Intron 2 splice mutation; Heterozygote