Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR

被引：18

作者：

Taschner, PEM ^{[1
]}

deVos, N ^{[1
]}

Breuning, MH ^{[1
]}

机构：

[1] ERASMUS UNIV ROTTERDAM,DEPT CLIN GENET,NL-3000 DR ROTTERDAM,NETHERLANDS

来源：

JOURNAL OF MEDICAL GENETICS | 1997年 / 34卷 / 11期

关键词：

neuronal ceroid lipofuscinosis; Batten disease; NCL; CLN3;

D O I：

10.1136/jmg.34.11.955

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The recent isolation of the CLN3 gene involved in Batten disease (juvenile neuronal ceroid lipofuscinosis) creates possibilities for direct detection of mutations which can confirm or indicate the clinical diagnosis of Batten disease. We have designed a rapid and reliable allele specific PCR test for the detection of the major deletion, which can be used in carrier diagnosis, presymptomatic diagnosis, and prenatal diagnosis.

引用

页码：955 / 956

页数：2

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[2]

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