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亚美尼亚人群中乳糖酶持久性等位基因的频率极低。

Very low frequency of the lactase persistence allele in the Armenian population.

作者信息

Németh Stefan, Kriegshäuser Gernot, Hovhannesyan Kristine, Hayrapetyan Hasmik, Oberkanins Christian, Sarkisian Tamara

机构信息

ViennaLab Diagnostics, Vienna, Austria.

IHR LABOR, Medical Diagnostic Laboratories, Vienna, Austria.

出版信息

Ann Hum Biol. 2022 Sep;49(5-6):260-262. doi: 10.1080/03014460.2022.2126887. Epub 2022 Nov 2.

Abstract

Primary lactose malabsorption is characterised by a down-regulation of lactase activity after weaning and inability to digest lactose in adulthood. It has been suggested that the historical introduction of dairying led to a positive selection for lactase persistence variants in a regulatory region upstream of the gene. Here, we genotyped 202 Armenian subjects for , a lactase persistence variant which is widespread in Europeans. The homozygous C/C genotype associated with primary hypolactasia, the heterozygous C/T and the homozygous T/T lactase persistence genotypes were found in 191 (94.6%), 11 (5.4%), and 0 (0.0%) samples, respectively. The frequency for the -13910*T allele was 2.7%. The observed allele frequency of 2.7% for - is even lower than previously reported and supports current phenotypic data about lactose malabsorption in Armenia.

摘要

原发性乳糖吸收不良的特征是断奶后乳糖酶活性下调,以及成年后无法消化乳糖。有人提出,历史上乳制品的引入导致了对该基因上游调控区域中乳糖酶持续存在变异体的正向选择。在这里,我们对202名亚美尼亚受试者进行了基因分型,检测了一种在欧洲人中广泛存在的乳糖酶持续存在变异体。与原发性低乳糖酶症相关的纯合子C/C基因型、杂合子C/T和纯合子T/T乳糖酶持续存在基因型分别在191个(94.6%)、11个(5.4%)和0个(0.0%)样本中被发现。-13910T等位基因的频率为2.7%。观察到的-13910T等位基因频率为2.7%,甚至低于先前报道的频率,并支持了目前关于亚美尼亚乳糖吸收不良的表型数据。

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