蛋白脂蛋白（PLP1）基因中的一种新的多态性及其在佩利措伊斯-梅茨巴赫病中用于检测PLP1基因重复携带者的应用。

A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease.

作者信息

Hobson G, Stabley D, Funanage V, Marks H

机构信息

Department of Research, Alfred I. DuPont Hospital for Children, Wilmington, DE, USA.

出版信息

Hum Mutat. 2001 Feb;17(2):152. doi: 10.1002/1098-1004(200102)17:2<152::AID-HUMU9>3.0.CO;2-P.

DOI:10.1002/1098-1004(200102)17:2<152::AID-HUMU9>3.0.CO;2-P

PMID:11180600

Abstract

Pelizaeus Merzbacher Disease (PMD) is an X-linked recessive dysmyelinating disorder of the central nervous system. Most patients have point mutations in exons of the proteolipid protein (PLP1) gene or duplication of a genomic region that includes the PLP1 gene. We identified a common MspI polymorphism in intron 1 of the PLP1 gene and used it to determine carrier status for PLP1 gene duplication in PMD by using a quantitative PCR approach.

摘要

佩利措伊斯-梅茨巴赫病（PMD）是一种X连锁隐性中枢神经系统脱髓鞘疾病。大多数患者在蛋白脂蛋白（PLP1）基因的外显子中有点突变，或包含PLP1基因的基因组区域发生重复。我们在PLP1基因的第1内含子中鉴定出一种常见的MspI多态性，并通过定量PCR方法利用它来确定PMD中PLP1基因重复的携带者状态。