RAPID ANTENATAL DIAGNOSIS OF BETA-THALASSEMIA IN CHINESE CAUSED BY THE COMMON 4-BP-DELETION IN CODONS-41/42 USING HIGH-RESOLUTION AGAROSE-GEL ELECTROPHORESIS AND HETERODUPLEX DETECTION

被引：2

作者：

LAW, HY ^{[1
]}

ONG, J ^{[1
]}

YOON, CS ^{[1
]}

CHENG, H ^{[1
]}

TAN, CL ^{[1
]}

NG, I ^{[1
]}

机构：

[1] SINGAPORE GEN HOSP,DEPT OBSTET & GYNECOL,SINGAPORE,SINGAPORE

来源：

BIOCHEMICAL MEDICINE AND METABOLIC BIOLOGY | 1994年 / 53卷 / 02期

关键词：

D O I：

10.1006/bmmb.1994.1071

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 4-bp deletion in codons 41/42 (-TTCT) in the beta-globin gene is a common mutation that causes beta-thalassemia in Chinese. A simple method, which involved PCR amplification of the relevant region, was used for the antenatal diagnosis of a fetus at risk for this mutation. The fetal PCR product showed a single fragment of normal size on MetaPhor gel. The homozygous normal status was further confirmed by the generation of heteroduplexes only after addition of homozygous mutant DNA. (C) 1994 Academic Press, Inc.

引用

页码：149 / 151

页数：3