Steroid 5alpha-reductase 2 gene melting polymorphisms in male subjects with azoospermia or oligospermia

This study was designed to test the hypothesis that mutations in the gene for type 2 steroid 5alpha-reductase (SRD5A2) may be the cause of a phenotype characterized primarily by oligospermia or azoospermia. Deoxyribonucleic acid from control subjects and subjects with oligospermia (n = 12) and azoos...

Full description

Saved in:
Bibliographic Details
Published in:American journal of obstetrics and gynecology 1999-06, Vol.180 (6 Pt 1), p.1394-1398
Main Authors: Hines, R S, Tho, S P, Behzadian, M A, McDonough, P G
Format: Article
Language:English
Subjects:
3-Oxo-5-alpha-Steroid 4-Dehydrogenase - genetics
Blotting, Southern
Deoxyribonuclease HindIII
Deoxyribonucleases, Type II Site-Specific
DNA - analysis
Electrophoresis, Polyacrylamide Gel
Exons
Humans
Male
Mutation
Oligospermia - genetics
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:This study was designed to test the hypothesis that mutations in the gene for type 2 steroid 5alpha-reductase (SRD5A2) may be the cause of a phenotype characterized primarily by oligospermia or azoospermia. Deoxyribonucleic acid from control subjects and subjects with oligospermia (n = 12) and azoospermia (n = 6) were evaluated for mutations in SRD5A2. Methods used for mutation analysis included polymerase chain reaction, Southern blotting, and denaturing gradient gel electrophoresis. Denaturing gradient gel electrophoresis of all 5 amplified exons resulted in similar migration patterns in samples from both control and study subjects. Genomic deoxyribonucleic acid subjected to denaturing gradient gel electrophoresis after restriction digest revealed melting polymorphisms. Direct sequencing of the gene in a single patient with a unique melting polymorphism yielded a normal sequence. Melting polymorphisms for SRD5A2 were detected in a group of patients with oligospermia or azoospermia. Sequence analysis did not demonstrate functional mutations in the coding sequence of this gene.
ISSN:0002-9378