The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097→T transversion in NPC1

被引：76

作者：

Greer, WL

Riddell, DC

Gillan, TL

Girouard, GS

Sparrow, SM

Byers, DM

Dobson, MJ

Neumann, PE

机构：

[1] Dalhousie Univ, Fac Med, Dept Pathol, Div Mol Pathol & Mol Genet, Halifax, NS, Canada

[2] Dalhousie Univ, Fac Med, Dept Biochem, Halifax, NS, Canada

[3] Dalhousie Univ, Fac Med, Dept Paediat, Halifax, NS, Canada

[4] Dalhousie Univ, Fac Med, Dept Anat & Neurobiol, Halifax, NS, Canada

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 1998年 / 63卷 / 01期

关键词：

D O I：

10.1086/301931

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Niemann-Pick type D (NPD) disease is a progressive neurodegenerative disorder characterized by the accumulation of tissue cholesterol and sphingomyelin. This disorder is relatively common in southwestern Nova Scotia, because of a founder effect. Our previous studies, using classic linkage analysis of this large extended kindred, defined the critical gene region to a 13-cM chromosome segment between D18S40 and D18S66. A recently isolated gene from this region, NPC1, is mutated in the majority of patients with Niemann-Pick type C disease. We have identified a point mutation within this gene (G3097-->T; Gly992-->Trp) that shows complete linkage disequilibrium with NPD, confirming that NPD is an allelic variant of NPC1.

引用

页码：52 / 54

页数：3