Study of consanguineous populations can improve the annotation of SNP databases

被引：3

作者：

Shamseldin, Hanan E.

Al-Dosari, Mohammed ^{[2
]}

Al-Jbali, Latifa

Rahbeeni, Zuhair ^{[3
]}

Qari, Alya ^{[3
]}

Hashem, Mais

Alkuraya, Fowzan S. ^{[1
,4
,5
,6
]}

机构：

[1] King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia

[2] King Saud Univ, Coll Pharm, Dept Pharmacognosy, Riyadh, Saudi Arabia

[3] King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia

[4] King Saud Univ, Coll Med, Riyadh 11461, Saudi Arabia

[5] King Khalid Univ Hosp, Dept Pediat, Abha, Saudi Arabia

[6] Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2011年 / 54卷 / 02期

关键词：

Homozygosity; Benign SNP; Splicing; Ullrich muscular dystrophy; Glycogeneosis type III; CONGENITAL MUSCULAR-DYSTROPHY; COLLAGEN-VI; IDENTIFICATION; MUTATIONS; DISEASES;

D O I：

10.1016/j.ejmg.2010.10.009

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Our view of SNPs has evolved significantly from harmless mutational events that accumulated through the history of human race to important players in human health and disease. As a result, determining the pathologic vs. benign nature of SNPs on pure statistical basis is now viewed as too simplistic. Here, we show that two previously reported SNPs in COL6A2 and AGL represent disease-causing mutation for Ullrich Muscular Dystrophy and Glycogenosis type III, respectively, in homoallelic state. This report urges caution in interpreting SNPs in databases in the clinical genetics setting and calls for sequencing runs of homozygosity in healthy individuals as a promising approach to better annotate SNP databases. (C) 2010 Elsevier Masson SAS. All rights reserved.

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收藏

页码：118 / 120

页数：3

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