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鉴定导致中东地区起源的遗传性酪氨酸血症 I 型患者的突变。

Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.

机构信息

Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.

出版信息

Mol Genet Metab. 2011 Dec;104(4):688-90. doi: 10.1016/j.ymgme.2011.06.019. Epub 2011 Jun 30.

DOI:10.1016/j.ymgme.2011.06.019
PMID:21764616
Abstract

Hereditary Tyrosinemia Type 1 (HT1) is an autosomal recessive disorder resulting from a deficiency of fumarylacetoacetase caused by mutations in the fumarylacetoacetate hydrolase (FAH) gene. We detected 11 novel and 6 previously described pathogenic mutations in a cohort of 43 patients originating from the Middle East with the acute form HT1. All of the mutations were homozygous and we did not find the presence of a "founder mutation".

摘要

遗传性酪氨酸血症 1 型（HT1）是一种常染色体隐性遗传疾病，由 FAH 基因突变导致 fumarylacetoacetate 水解酶（FAH）缺乏引起。我们在一组中东急性 HT1 患者中检测到了 11 种新的和 6 种已描述的致病性突变。所有突变均为纯合子，我们没有发现“创始突变”的存在。

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