Navajo Microvillous Inclusion Disease Is Due to a Mutation in MYO5B

被引：71

作者：

Erickson, Robert P. ^{[1
,2
]}

Larson-Thome, Katherine ^{[1
]}

Valenzuela, Robert K. ^{[3
]}

Whitaker, Stacia E. ^{[2
]}

Shub, Mitchell D. ^{[4
]}

机构：

[1] Univ Arizona, Dept Pediat, Tucson, AZ 85724 USA

[2] Univ Arizona, Dept Mol & Cellular Biol, Tucson, AZ 85724 USA

[3] Univ Arizona, Genet Interdepartmental Grad Program, Tucson, AZ 85724 USA

[4] Phoenix Childrens Hosp, Dept Pediat Gastroenterol & Nutr, Phoenix, AZ USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2008年 / 146A卷 / 24期

关键词：

secretory diarrhea; apical transport; enterocytes; genetic bottlenecks; Ras-associated proteins;

D O I：

10.1002/ajmg.a.32605

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

Microvillous Inclusion Disease(MID) is a rare, autosomal recessive gastrointestinal disease of increased frequency among the Navajos. Previous work has shown a deficiency of RAB8 in one Japanese patient, while-homozygous mutations in MYO5B were found in 7 of 10 mostly Middle Eastern families. We have identified a shared homozygous mutation in MYO5B in seven affected Navajos with the expected heterozygosity-in five parents. We have developed a simple restriction enzyme based assay that allows for rapid screening for this mutation. (C) 2008 Wiley-Liss, Inc.

引用

页码：3117 / 3119

页数：3

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