A RAPID METHOD FOR DIAGNOSIS OF THE LEBANESE ALLELE IN THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE

被引：2

作者：

CAVANAUGH, JA ^{[1
]}

EASTEAL, S ^{[1
]}

SIMONS, L ^{[1
]}

SERJEANTSON, S ^{[1
]}

机构：

[1] ST VINCENTS HOSP,DEPT LIPID,DARLINGHURST,NSW 2010,AUSTRALIA

来源：

HUMAN HEREDITY | 1992年 / 42卷 / 03期

关键词：

LOW-DENSITY LIPOPROTEIN RECEPTOR; POLYMERASE CHAIN REACTION; AMPLIFIED FRAGMENT LENGTH POLYMORPHISM; FAMILIAL HYPERCHOLESTEROLEMIA;

D O I：

10.1159/000154065

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The Lebanese allele in the low-density lipoprotein receptor gene is one of the alleles which results in the disease familial hypercholesterolemia. We describe a rapid method for detection of the Lebanese allele, using the polymerase chain reaction to amplify part of exon 13, intron 14 and all of exon 14. The amplified DNA is then digested with HinfI which distinguishes between the normal and Lebanese alleles. A previously unidentified HinfI site is described in the intron. HinfI fragments are separated using polyacrylamide gel electrophoresis, and visualized by ethidium bromide staining.

引用

页码：189 / 192

页数：4

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