Amplification of a 13.5-kb region of the PKD1 gene containing the 2.5-kb polypyrimidine tract in intron 21 facilitates mutation detection in this gene

被引：1

作者：

Afzal, AR ^{[1
]}

Jeffery, S ^{[1
]}

机构：

[1] St George Hosp, Sch Med, Dept Med Genet, London SW17 0RE, England

来源：

GENETIC TESTING | 2001年 / 5卷 / 01期

关键词：

D O I：

10.1089/109065701750168761

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mutation detection in the PKD1 gene proved to be difficult because two-thirds of the gene is reiterated several times on chromosome 16. Long-range PCR has been used previously to overcome this limitation, but due to a 2.5-kb polypyrimidine tract in intron 21, the screening capacity of the PKD1 gene using this technique was hindered. Here we report the measures that we have used to overcome this limitation.

引用

页码：57 / 59

页数：3

共 9 条

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