Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population

被引：31

作者：

Sinigerska, I

Chandler, D

Vaghjiani, V

Hassanova, I

Gooding, R

Morrone, A

Kremensky, I

Kalaydjieva, L ^{[1
]}

机构：

[1] Univ Western Australia, Western Australian Inst Med Res, Mol Genet Lab, Perth, WA 6009, Australia

[2] Univ Western Australia, Med Res Ctr, Perth, WA 6009, Australia

[3] Med Univ, Lab Mol Pathol, Sofia, Bulgaria

[4] Edith Cowan Univ, Ctr Human Genet, Perth, WA, Australia

[5] Univ Florence, Dept Paediat, Florence, Italy

来源：

MOLECULAR GENETICS AND METABOLISM | 2006年 / 88卷 / 01期

基金：

英国惠康基金;

关键词：

infantile GM1-gangliosidosis; beta-galactosidase (GLB1) gene; Gypsy population; founder mutations; genetic diagnosis;

D O I：

10.1016/j.ymgme.2005.12.009

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The Gypsies are a trans-national founder population of Asian descent, whose genetic heritage is still incompletely characterized. Here, we describe the first founder mutation leading to a lysosomal storage disorder in this population: R59H in GLB1, which causes infantile GM1-gangliosidosis. The R59H carrier rate is similar to 2% in the general Gypsy Population and similar to 10% in the Rudari sub-isolate. Haplotype analysis suggests that the Gypsy diaspora may have contributed to the spread of this mutation to South America. (c) 2006 Elsevier Inc. All rights reserved.

引用

页码：93 / 95

页数：3

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