克罗地亚人群中α-1,3葡糖基转移酶p.Y131H和p.F304S多态性的频率测定揭示了hALG6基因中的五个新型单核苷酸多态性。

Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene.

作者信息

Goreta Sandra Supraha, Dabelic Sanja, Pavlinic Dinko, Lauc Gordan, Dumic Jerka

机构信息

Department of Biochemistry and Molecular Biology, Faculty of Pharmacy and Biochemistry, University of Zagreb, Zagreb, Croatia.

出版信息

Genet Test Mol Biomarkers. 2012 Jan;16(1):50-3. doi: 10.1089/gtmb.2011.0093. Epub 2011 Sep 7.

DOI:10.1089/gtmb.2011.0093

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3265770/

Abstract

The congenital disorder of glycosylation (CDG)-Ic (ALG6-CDG, CDG-Ic) is caused by mutations in the hALG6 gene that encodes the N-glycosylation pathway enzyme, α-1,3-glucosyltransferase (NP_037471.2). The aim of our study was to estimate the frequencies of ALG6-CDG related p.Y131H and p.F304S polymorphisms in the Croatian population. Genomic DNA was isolated from blood samples collected from 600 healthy individuals. Functional single-nucleotide polymorphisms rs35383149 and rs17856039 causing p.Y131H and p.F304S, respectively, were genotyped by the TaqMan method and direct sequencing. The frequency of p.F304S polymorphism in the studied cohort was shown to be similar to the frequencies found in other tested populations (27%), whereas the frequency of p.Y131H was found to be three times higher (6.7%). Five novel base substitutions in the hALG6 gene were also found: three in exon 5 (c.383T>C, c.390G>A, and c.429G>C) and two in a downstream intervening sequence (IVS5+17C/T and IVS5+34G/A).

摘要

糖基化先天性疾病（CDG）-Ic（ALG6-CDG，CDG-Ic）由编码N-糖基化途径酶α-1,3-葡糖基转移酶（NP_037471.2）的hALG6基因突变引起。我们研究的目的是估计克罗地亚人群中与ALG6-CDG相关的p.Y131H和p.F304S多态性的频率。从600名健康个体采集的血液样本中分离基因组DNA。分别导致p.Y131H和p.F304S的功能性单核苷酸多态性rs35383149和rs17856039通过TaqMan方法和直接测序进行基因分型。研究队列中p.F304S多态性的频率显示与其他测试人群中的频率相似（27%），而p.Y131H的频率则高出三倍（6.7%）。在hALG6基因中还发现了五个新的碱基替换：外显子5中有三个（c.383T>C、c.390G>A和c.429G>C），下游间隔序列中有两个（IVS5+17C/T和IVS5+34G/A）。

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