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Characterization Of Pathogenic Mutations In 21-Hydroxylase Gene Of Pakistani Patients With Congenital Adrenal Hyperplasia And Their Family Members--A Preliminary Report, A H. Khan, M I. Nasir, T Moatter
Characterization Of Pathogenic Mutations In 21-Hydroxylase Gene Of Pakistani Patients With Congenital Adrenal Hyperplasia And Their Family Members--A Preliminary Report, A H. Khan, M I. Nasir, T Moatter
Department of Pathology and Laboratory Medicine
Objective:
To characterize specific mutations within the 21-hydroxylase gene (CYP21-B) using ARMS-PCR assay in patients with congenital adrenal hyperplasia (CAH) and to compare it with that reported in other populations.
Subjects and Methods:
Five families, having an index case with CAH diagnosed on the basis of clinical and biochemical findings volunteered to give blood samples for analysis. A strategy, based on ARMS-PCR (Amplified Refractory Mutation System) was employed for the detection of mutations in 21-hydroxylase gene. The products of ARMS-PCR were resolved on agarose gels and the PCR products were visualized over ultra violet illumination.
Results:
Twenty-six specimens were analyzed …