北非TAS2R38基因的独特多样性模式

4区生物学 Q2 Medicine

Human Biology Pub Date : 2022-03-12 DOI:10.1353/hub.2017.0106

Soufia Mourali-Chebil, Sarra Elkamel, S. Boussetta, A. Pakstis, K. Kidd, A. Benammar-Elgaaied, L. Cherni

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引用次数: 0

摘要

TAS2R38基因与苦味感知有关。本研究记录了北非地区TAS2R38位点上rs713598和rs1726866功能性单核苷酸多态性的独特多样性模式，并将这些模式置于全球TAS2R38多样性的背景下。先前用TaqMan法对375名不相关受试者的rs713598和rs1726866进行基因分型分析(来自7个地点的305名突尼斯人:Mahdia、Sousse、Kesra、Nebeur、Kairouan、Smar和Kerkennah;加上70名利比亚人)。在与全球人群的数据进行比较之前，对数据进行了单倍型和基因型分析。这项研究提供了关于TAS2R38多样性的信息，这是世界上研究相对不足的一部分。考虑到两个snp rs713598和rs1726866，导致PV氨基酸单倍型的CA核苷酸单倍型几乎在任何地方都是极其罕见的，但在北非相对常见(6%至10%)，与全球常见的氨基酸单倍型PA, AA和AV共存。鉴于其在北非的较高频率，作者提出CA核苷酸单倍型作为法医目的的生物地理标记。

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A Distinctive Pattern of Diversity for the TAS2R38 Gene in North Africa

The TAS2R38 gene is involved in bitter taste perception. This study documents the distinctive diversity patterns in northern Africa of functional single-nucleotide polymorphisms (SNPs) rs713598 and rs1726866 at the TAS2R38 locus and places those patterns in the context of global TAS2R38 diversity. Data previously genotyped with TaqMan assay were analyzed for rs713598 and rs1726866 for 375 unrelated subjects (305 Tunisians from seven locations: Mahdia, Sousse, Kesra, Nebeur, Kairouan, Smar, and Kerkennah; plus 70 Libyans). Data were analyzed to present haplotypes and genotypes before comparison with data from worldwide populations. This study provides information about TAS2R38 diversity in a part of the world that is relatively understudied. Considering the two SNPs rs713598 and rs1726866, the CA nucleotide haplotype leading to the PV amino acid haplotype is extremely rare almost everywhere, but it is relatively frequent (between 6% and 10%) in northern Africa, where it coexists with the globally common amino acid haplotypes PA, AA, and AV. Given its higher frequency in North Africa, the authors propose the CA nucleotide haplotype as a biogeographic marker for forensic purposes.

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来源期刊

Human Biology 生物-生物学

CiteScore

1.90

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Human Biology publishes original scientific articles, brief communications, letters to the editor, and review articles on the general topic of biological anthropology. Our main focus is understanding human biological variation and human evolution through a broad range of approaches. We encourage investigators to submit any study on human biological diversity presented from an evolutionary or adaptive perspective. Priority will be given to interdisciplinary studies that seek to better explain the interaction between cultural processes and biological processes in our evolution. Methodological papers are also encouraged. Any computational approach intended to summarize cultural variation is encouraged. Studies that are essentially descriptive or concern only a limited geographic area are acceptable only when they have a wider relevance to understanding human biological variation. Manuscripts may cover any of the following disciplines, once the anthropological focus is apparent: human population genetics, evolutionary and genetic demography, quantitative genetics, evolutionary biology, ancient DNA studies, biological diversity interpreted in terms of adaptation (biometry, physical anthropology), and interdisciplinary research linking biological and cultural diversity (inferred from linguistic variability, ethnological diversity, archaeological evidence, etc.).