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蒙古人群体中晒黑能力的连锁与关联扫描。

Linkage and association scan for tanning ability in an isolated Mongolian population.

机构信息

Institute of Dermatological Science, Seoul National University College of Medicine, Korea.

出版信息

BMB Rep. 2011 Nov;44(11):741-6. doi: 10.5483/BMBRep.2011.44.11.741.

DOI:10.5483/BMBRep.2011.44.11.741
PMID:22118541
Abstract

Tanning ability is important, because it represents the ability of the skin to protect itself against ultraviolet (UV) radiation. Here, we sought to determine genetic regions associated with tanning ability. Skin pigmentation was measured at the outer forearm and buttock areas to represent facultative and constitutive skin color, respectively. In our study population consisting of isolated Mongolian subjects, with common histories of environmental UV exposure during their nomadic life, facultative skin color adjusted by constitutive skin color was used to indicate tanning ability. Through linkage analysis and family-based association tests of 345 Mongolian subjects, we identified 2 potential linkage regions regulating tanning ability on 5q35.3 and 12q13.2, having 6 and 7 significant single nucleotide polymorphisms (SNPs), respectively. Those significant SNPs were located in or adjacent to potential candidate genes related to tanning ability: GRM6, ATF1, WNT1, and SILV/Pmel17.

摘要

晒黑能力很重要,因为它代表了皮肤抵御紫外线 (UV) 辐射的能力。在这里,我们试图确定与晒黑能力相关的遗传区域。皮肤色素沉着在外前臂和臀部区域进行测量,分别代表兼性和固有肤色。在我们的研究人群中,包括孤立的蒙古受试者,他们在游牧生活中有共同的环境 UV 暴露史,通过对 345 名蒙古受试者进行连锁分析和基于家系的关联测试,我们确定了 5q35.3 和 12q13.2 上调节晒黑能力的 2 个潜在连锁区域,分别有 6 个和 7 个显著的单核苷酸多态性 (SNP)。这些显著的 SNP 位于与晒黑能力相关的潜在候选基因:GRM6、ATF1、WNT1 和 SILV/Pmel17 的内部或附近。

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