INVITRO GENE AMPLIFICATION FOR PRENATAL-DIAGNOSIS OF CONGENITAL ADRENAL-HYPERPLASIA

被引：12

作者：

RUMSBY, G

HONOUR, JW

机构：

[1] Chemical Pathology Dept., University College, Windeyer Building, London W1P 6DB, Cleveland Street

来源：

JOURNAL OF MEDICAL GENETICS | 1990年 / 27卷 / 11期

关键词：

D O I：

10.1136/jmg.27.11.676

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A simple, rapid, non-radioactive method for detecting homozygous deletion/conversions of the steroid 21-hydroxylase gene is described. In our experience this method will be useful for first trimester prenatal diagnosis of congenital adrenal hyperplasia in 17% of families of a child with the salt losing form. This test includes an internal control to monitor the success of amplification.

引用

页码：676 / 678

页数：3

共 9 条

[1]

FUJIMURA FK, 1990, NEW ENGL J MED, V322, P61

[2] PRENATAL-DIAGNOSIS OF CONGENITAL ADRENAL-HYPERPLASIA - RELIABILITY OF AMNIOTIC-FLUID STEROID ANALYSIS [J].