GENETIC-ANALYSIS OF THE STEROID 21-HYDROXYLASE GENE FOLLOWING INVITRO AMPLIFICATION OF GENOMIC DNA

被引：5

作者：

RUMSBY, G

SKINNER, C

HONOUR, JW

机构：

[1] Department of Chemical Pathology, University College, Middlesex School of Medicine, London, W1P 6DB England, Windeyer Building, Cleveland Street

来源：

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY | 1992年 / 41卷 / 3-8期

关键词：

D O I：

10.1016/0960-0760(92)90432-I

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The 5' end of the steroid 21-hydroxylase B gene encompassing putative control regions and the first 3 exons, has been selectively amplified in vitro from a number of patients with congenital adrenal hyperplasia caused by a deficiency of this enzyme. Sequence analysis has revealed a number of isolated instances of gene conversion to the 21-hydroxylase A sequence. One mutation, a C to G transversion at the 3' end of the second intron, through to lead to incorrect splicing of the mRNA, was found in 11 subjects all with the classical form of the disease.

引用

页码：827 / 829

页数：3

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