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 15%) 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.

中文翻译：

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北非 TAS2R38 基因的独特多样性模式。

TAS2R38 基因参与苦味感知。本研究记录了北非 TAS2R38 基因座功能性单核苷酸多态性 (SNP) rs713598 和 rs1726866 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。之前使用 TaqMan 检测进行基因分型的数据对 375 名无关受试者（来自七个地点的 305 名突尼斯人：马赫迪耶、苏斯、凯斯拉、内博尔、凯鲁万、斯马尔和凯尔肯纳；加上 70 名利比亚人）的 rs713598 和 rs1726866 进行了分析。在与世界各地人群的数据进行比较之前，对数据进行分析以呈现单倍型和基因型。这项研究提供了有关世界上相对缺乏研究的地区的 TAS2R38 多样性的信息。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所有地方都极为罕见，但在北非相对常见（6% 至 15%），在那里它与全球常见的氨基酸共存。酸性单倍型 PA、AA 和 AV。鉴于其在北非的出现频率较高，作者提出 CA 核苷酸单倍型作为法医目的的生物地理标记。