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首页> 外文期刊>Journal of genetics >GBA mutations in Gaucher type I Venezuelan patients: ethnic origins and frequencies
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GBA mutations in Gaucher type I Venezuelan patients: ethnic origins and frequencies

机译：GBA突变在Gaucher I型I委内瑞拉患者：种族起源和频率

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摘要

Gaucher disease (GD), the most frequent lysosomal storage disease, is caused by heterogeneous mutations in the locus coding for glucocerebrosidase (GBA). It is an autosomal recessive disorder with different phenotypes of which the most frequent is the nonneuronopathic or type 1, prevalent worldwide. To date, more than 430 mutations have been described, but their frequency distribution varies in different populations with four, N370S, L444P, IVS2 + 1G > A and 84insG, being the most frequent ones. In Venezuela, 20 unrelated index cases with GD type I were assessed for GBA mutation detection and for their in-phase haplotype identification, to gather genetic epidemiological data on the disease in the country and of its eventual ethnic origin. Ten missense mutations and two complex alleles were identified. The most frequent were N370S (42.5%), L444P (20%), IVS2 + 1G > A (10%) and R48W (5%); mutations R120W, P245H, H311R, R496H, W36X and R433G which were carried by a single chromosome each one. Three geographical foci were identified, displaying mutation heterogeneity. N370S had multiple genetic origins, different from the Ashkenazi's; a single common remote ancestor for this mutation in the country was dismissed, according to the haplotype analysis. All mutations have a likely European Caucasoid descent.
机译：Gaucher病（GD）是最常见的溶酶体储存疾病，是由葡萄糖脑苷酶（GBA）的基因座中的异质突变引起的。它是一种具有不同表型的常染色体隐性障碍，其中最常见的是非全新程度或1型，全世界普遍存在。迄今为止，已经描述了超过430个突变，但它们的频率分布在不同的群体中变化，具有四个，N370S，L444P，IVS2 + 1G> A和84InsG，是最常见的群体。在委内瑞拉，对GD I型无关的指数案例进行了评估了GBA突变检测和它们的同型单倍型鉴定，以收集该国的遗传流行病学数据以及其最终族裔的疾病。鉴定了十个畸形突变和两种复杂等位基因。最常见的是N370S（42.5％），L444P（20％），IVS2 + 1G> A（10％）和R48W（5％）;突变R120W，P245H，H311R，R496H，W36X和R433G每一个染色体携带。鉴定了三个地理灶，显示突变异质性。 N370s有多种遗传起源，与Ashkenazi不同;根据单倍型分析，该国在该国突变的一个常见的远程祖先被驳回。所有突变都有可能的欧洲持久性血统。

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