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耳垢基因频率的日本地图:超级科学高中联盟的全国性合作研究。

Japanese map of the earwax gene frequency: a nationwide collaborative study by Super Science High School Consortium.

出版信息

J Hum Genet. 2009 Sep;54(9):499-503. doi: 10.1038/jhg.2009.62. Epub 2009 Jul 31.

Abstract

Wet/dry types of earwax are determined by the c.538G>A single-nucleotide polymorphism (SNP) in the ABCC11 gene; GA and GG genotypes give the wet type and AA the dry type. The Japanese population may have a dual structure comprising descendants of mixtures between the ancient 'Jomon' and 'Yayoi' populations. We hypothesized that the dry type was introduced by the Yayoi people to the Jomon population where the wet type was predominant, and as the mixture of the two populations has not yet been complete, the allele-A frequency (f(A)) would even now be higher along a putative Yayoi man's peopling route within Japanese islands. To know the frequency, a nationwide Super Science High School (SSH) Consortium collected 1963 fingernail samples of pupils/students from at least one high school/university in every prefecture. All further procedures, DNA extraction, SNP genotyping and gene frequency estimation, were carried out by trained SSH pupils. Although the allele-A frequency varied among the 47 prefectures, the Gifu/Kyoto and Okinawa prefectures showed the highest and lowest values, respectively. Areas with high frequencies included Northeastern Kyushu, Northern Shikoku and Kinki districts, showing a belt-like zone, whereas those with low frequencies other than Okinawa were the Southwestern Kyushu, Hiroshima prefecture and Tohoku districts. The f(A) value in Kinki district was statistically higher than those in prefectures westward and east-northward from it. The result may provide another line of evidence supporting a possible route of the Yayoi-man's peopling in Japan.

摘要

耳垢的湿/干类型由ABCC11基因中的c.538G>A单核苷酸多态性(SNP)决定;GA和GG基因型产生湿型,AA基因型产生干型。日本人群可能具有双重结构,包括古代“绳纹”和“弥生”人群混合后的后代。我们假设干型是由弥生人引入到以湿型为主的绳纹人群中的,由于这两个人群的混合尚未完成,即使在现在,沿着日本列岛内一条假定的弥生人迁徙路线,等位基因A频率(f(A))也会更高。为了了解该频率,一个全国性的超级科学高中(SSH)联盟收集了来自每个县至少一所高中/大学的1963名学生的指甲样本。所有后续程序,包括DNA提取、SNP基因分型和基因频率估计,均由经过培训的SSH学生进行。尽管47个县的等位基因A频率各不相同,但岐阜/京都和冲绳县分别显示出最高和最低值。高频率地区包括九州东北部、四国北部和近畿地区,呈现出带状区域,而除冲绳外频率较低的地区是九州西南部、广岛县和东北地区。近畿地区的f(A)值在统计学上高于其西部和东北偏东方向各县的值。这一结果可能为支持弥生人在日本可能的迁徙路线提供另一项证据。

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