当前位置： SCI文献检索 > AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY期刊下所有文献 > Rapid identification of deoxyribonucleic acid sequence differences in cytochrome P-450 21-hydroxylase (CYP21) genes with denaturing gradient gel blots.

Rapid identification of deoxyribonucleic acid sequence differences in cytochrome P-450 21-hydroxylase (CYP21) genes with denaturing gradient gel blots.

Abstract：

:Denaturing gradient gel electrophoresis was used to identify single-base differences in the cytochrome P-450 21-hydroxylase (CYP21) genes of 132 unrelated control individuals and family members of three unrelated patients with 21-hydroxylase deficiency. The salt-wasting variety was caused by gene deletion and gene conversion/deletion mutations in affected members of two families studied. The simple virilizing form, present in the third family, was caused by an apparent point mutation not detectable by routine Southern blots. We have detected many restriction fragment melting polymorphisms in the CYP21 genes of the members of both salt-wasting families and normal individuals with denaturing gradient gel electrophoresis. We also identified a restriction fragment melting polymorphism specific for the simple virilizing patient in the third family. The data demonstrate that the CYP21 genes are highly polymorphic and that denaturing gradient gel electrophoresis is useful for genomic deoxyribonucleic acid analysis of patients with 21-hydroxylase deficiency.

journal_name

Am J Obstet Gynecol

journal_title

American journal of obstetrics and gynecology

authors

Reindollar RH,Su BC,Bayer SR,Gray MR

doi

10.1016/0002-9378(92)91857-7

subject

Has Abstract

pub_date

1992-01-01 00:00:00

pages

184-91

issue

1 Pt 1

eissn

0002-9378

issn

1097-6868

pii

0002-9378(92)91857-7

journal_volume

166

pub_type

杂志文章

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