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加泰罗尼亚姓氏样本中的Y染色体多样性:对姓氏起源和频率的见解。

Y-chromosome diversity in Catalan surname samples: insights into surname origin and frequency.

作者信息

Solé-Morata Neus, Bertranpetit Jaume, Comas David, Calafell Francesc

机构信息

Departament de Ciències Experimentals i de la Salut, Institute of Evolutionary Biology (CSIC-Universitat Pompeu Fabra), Universitat Pompeu Fabra, CEXS-UPF-PRBB, Barcelona, Catalonia, Spain.

出版信息

Eur J Hum Genet. 2015 Nov;23(11):1549-57. doi: 10.1038/ejhg.2015.14. Epub 2015 Feb 18.

Abstract

The biological behavior of the Y chromosome, which is paternally inherited, implies that males sharing the same surname may also share a similar Y chromosome. However, socio-cultural factors, such as polyphyletism, non-paternity, adoption, or matrilineal surname transmission, may prevent the joint transmission of the surname and the Y chromosome. By genotyping 17 Y-STRs and 68 SNPs in ~2500 male samples that each carried one of the 50 selected Catalan surnames, we could determine sets of descendants of a common ancestor, the population of origin of the common ancestor, and the date when such a common ancestor lived. Haplotype diversity was positively correlated with surname frequency, that is, rarer surnames showed the strongest signals of coancestry. Introgression rates of Y chromosomes into a surname by non-paternity, adoption, and transmission of the maternal surname were estimated at 1.5-2.6% per generation, with some local variation. Average ages for the founders of the surnames were estimated at ~500 years, suggesting a delay between the origin of surnames (twelfth and thirteenth centuries) and the systematization of their paternal transmission. We have found that, in general, a foreign etymology for a surname does not often result in a non-indigenous origin of surname founders; however, bearers of some surnames with an Arabic etymology show an excess of North African haplotypes. Finally, we estimate that surname prediction from a Y-chromosome haplotype, which may have interesting forensic applications, has a ~60% sensitivity but a 17% false discovery rate.

摘要

Y染色体通过父系遗传,其生物学行为表明,拥有相同姓氏的男性可能也拥有相似的Y染色体。然而,诸如姓氏来源多元化、非亲生关系、收养或母系姓氏传承等社会文化因素,可能会阻碍姓氏与Y染色体的共同传承。通过对约2500个男性样本进行17个Y染色体短串联重复序列(Y-STR)和68个单核苷酸多态性(SNP)的基因分型,这些样本分别携带50个选定的加泰罗尼亚姓氏之一,我们能够确定共同祖先的后代群体、共同祖先的起源群体以及该共同祖先生活的年代。单倍型多样性与姓氏频率呈正相关,也就是说,越罕见的姓氏显示出最强的共同祖先信号。通过非亲生关系、收养和母系姓氏传承,Y染色体渗入姓氏的速率估计为每代1.5%-2.6%,存在一些局部差异。姓氏创始人的平均年龄估计约为500岁,这表明姓氏起源(12和13世纪)与其父系传承的系统化之间存在延迟。我们发现,一般来说,姓氏的外来词源并不常导致姓氏创始人有非本土的起源;然而,一些具有阿拉伯词源的姓氏携带者显示出北非单倍型的过量。最后,我们估计,从Y染色体单倍型预测姓氏可能有有趣的法医应用,其灵敏度约为60%,但错误发现率为17%。

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