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

R. S. Hines, S. P. Tho, M. Ali Behzadian, Paul G McDonough

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

OBJECTIVE: This study was designed to test the hypothesis that mutations in the gene for type 2 steroid 5α-reductase (SRD5A2) may be the cause of a phenotype characterized primarily by oligospermia or azoospermia. STUDY DESIGN: 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. RESULTS: 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. CONCLUSIONS: 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.

Original languageEnglish (US)
Pages (from-to)1394-1398
Number of pages5
JournalAmerican Journal of Obstetrics and Gynecology
Volume180
Issue number6 I
DOIs
StatePublished - Jan 1 1999

Fingerprint

Oligospermia
Azoospermia
Denaturing Gradient Gel Electrophoresis
Freezing
Oxidoreductases
Steroids
Mutation
Genes
DNA
Southern Blotting
Sequence Analysis
Exons
Phenotype
Polymerase Chain Reaction

Keywords

  • Azoospermia
  • Oligospermia
  • Steroid 5α-reductase 2

ASJC Scopus subject areas

  • Obstetrics and Gynecology

Cite this

Steroid 5α-reductase 2 gene melting polymorphisms in male subjects with azoospermia or oligospermia. / Hines, R. S.; Tho, S. P.; Ali Behzadian, M.; McDonough, Paul G.

In: American Journal of Obstetrics and Gynecology, Vol. 180, No. 6 I, 01.01.1999, p. 1394-1398.

Research output: Contribution to journalArticle

Hines, R. S. ; Tho, S. P. ; Ali Behzadian, M. ; McDonough, Paul G. / Steroid 5α-reductase 2 gene melting polymorphisms in male subjects with azoospermia or oligospermia. In: American Journal of Obstetrics and Gynecology. 1999 ; Vol. 180, No. 6 I. pp. 1394-1398.
@article{3588e3b55e504033b2aea17c12da8d4e,
title = "Steroid 5α-reductase 2 gene melting polymorphisms in male subjects with azoospermia or oligospermia",
abstract = "OBJECTIVE: This study was designed to test the hypothesis that mutations in the gene for type 2 steroid 5α-reductase (SRD5A2) may be the cause of a phenotype characterized primarily by oligospermia or azoospermia. STUDY DESIGN: 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. RESULTS: 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. CONCLUSIONS: 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.",
keywords = "Azoospermia, Oligospermia, Steroid 5α-reductase 2",
author = "Hines, {R. S.} and Tho, {S. P.} and {Ali Behzadian}, M. and McDonough, {Paul G}",
year = "1999",
month = "1",
day = "1",
doi = "10.1016/S0002-9378(99)70024-4",
language = "English (US)",
volume = "180",
pages = "1394--1398",
journal = "American Journal of Obstetrics and Gynecology",
issn = "0002-9378",
publisher = "Mosby Inc.",
number = "6 I",

}

TY - JOUR

T1 - Steroid 5α-reductase 2 gene melting polymorphisms in male subjects with azoospermia or oligospermia

AU - Hines, R. S.

AU - Tho, S. P.

AU - Ali Behzadian, M.

AU - McDonough, Paul G

PY - 1999/1/1

Y1 - 1999/1/1

N2 - OBJECTIVE: This study was designed to test the hypothesis that mutations in the gene for type 2 steroid 5α-reductase (SRD5A2) may be the cause of a phenotype characterized primarily by oligospermia or azoospermia. STUDY DESIGN: 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. RESULTS: 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. CONCLUSIONS: 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.

AB - OBJECTIVE: This study was designed to test the hypothesis that mutations in the gene for type 2 steroid 5α-reductase (SRD5A2) may be the cause of a phenotype characterized primarily by oligospermia or azoospermia. STUDY DESIGN: 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. RESULTS: 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. CONCLUSIONS: 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.

KW - Azoospermia

KW - Oligospermia

KW - Steroid 5α-reductase 2

UR - http://www.scopus.com/inward/record.url?scp=0033144728&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033144728&partnerID=8YFLogxK

U2 - 10.1016/S0002-9378(99)70024-4

DO - 10.1016/S0002-9378(99)70024-4

M3 - Article

VL - 180

SP - 1394

EP - 1398

JO - American Journal of Obstetrics and Gynecology

JF - American Journal of Obstetrics and Gynecology

SN - 0002-9378

IS - 6 I

ER -