Mitochondrial DNA regions HVI and HVII population data
Mitochondrial DNA regions HVI and HVII population data
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DOI：
10.1016/s0379-0738(99)00042-0
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发表时间：
1999-07-12
影响因子：
2.2
通讯作者：
Monson, KL
中科院分区：
文献类型：
--
作者：
Budowle, B;Wilson, MR;Monson, KL
来自8个人口群体的1393名无关个人的数据被汇编：非洲裔美国人、非洲人(塞拉利昂)、美国高加索人、奥地利人、法国人、西班牙人、日本人和亚裔美国人。大多数mtDNA序列在每个群体中只观察到一次(即，从亚裔美国人序列的60.3%(35/58)到法国人序列的85.3%(93/109)不等)。基因多样性从非洲样本的0.990到非裔美国人的0.998不等。随机匹配概率在亚裔美国人样本中为2.50%，在美国高加索样本中为0.52%。在一个数据库中，非裔美国人和非洲人样本中个体之间的平均核苷酸差异最大(分别为14.1和13.1)，变量最小的是高加索人(范围从7.2到8.4)。替换是主要的多态性，至少92%的替换是过渡性的。最常见的颠倒是As替代Cs，Cs替代As。对于大多数人群来说，这些转换主要发生在HVI区域；然而，非洲人、非裔美国人和西班牙裔样本也在HVII区域(第186和/或189点)显示了很大一部分C到A和A到C的转换。大多数插入发生在Hvii区的309.1和315.1位点，在C的延伸范围内。额外的C插入在所有群体中都很常见。序列数据被转换成SSO mtDNA类型，并与Stoneking等人描述的高加索人、非洲人、亚洲人、日本人和墨西哥人的人口数据进行比较。[M，Stoneking，D.Hedgecock，R.G.Higuchi，L.Viguant，H.A.Erlich，Popular Variance of Human mtDNA Control Region Sequence by Enzyme Examination and Sequence-Specitive ODN Probe，AmJ.嗯。吉内。48(1991)370-382]使用RXC列联表测试。主要人群(即非洲人、高加索人和亚洲人)之间的差异非常明显，相似的种族人群携带相似的SSO多态频率。只有少数SSO类型在亚种群间表现出显著差异。单靠SSO数据不能用完整的序列数据来描述群体遗传学。然而，SSO比较的结果与其他分析结果相似，并且主要种群之间HVI和HVII区域的序列数据差异大于亚群之间的差异。(C)1999爱思唯尔爱尔兰科学有限公司。保留所有权利。
Data from 1393 unrelated individuals have been compiled from eight population groups: African Americans, Africans (Sierra Leone), U.S. Caucasians, Austrians, French, Hispanics, Japanese, and Asian Americans. The majority of the mtDNA sequences were observed only once within each population group (i.e., ranging from a low of 60.3% (35/58) of the Asian American sequences to a high of 85.3% (93/109) of the French sequences). Genetic diversity ranged from 0.990 in the African sample to 0.998 in African Americans. Random match probability ranged from 2.50% in the Asian American sample to 0.52% in U.S. Caucasians. The average number of nucleotide differences between individuals in a database is greatest for the African American and African samples (14.1 and 13.1, respectively), and the least variable are the Caucasians (ranging from 7.2 to 8.4). Substitutions are the predominate polymorphism, and at least 92% of the substitutions are transitions. The most prevalent transversions are As substituted for Cs and Cs substituted for As. For most population groups these transversions occurred predominately in the HVI region; however, the African, African American, and Hispanic samples also demonstrated a large portion of their C to A and A to C transversions in the HVII region (at sites 186 and/or 189). Most insertions occur in the HVII region at sites 309.1 and 315.1, within a stretch of C's. Insertions of an additional C are common in all population groups. The sequence data were converted to SSO mtDNA types and compared with population data on Caucasians, Africans, Asians, Japanese, and Mexicans described by Stoneking et al. [M, Stoneking, D. Hedgecock, R.G. Higuchi, L. Vigilant, H.A. Erlich, Population variation of human mtDNA control region sequences detected by enzymatic amplification and sequence-specific oligonucleotide probes, Am. J. Hum. Genet. 48 (1991) 370-382] using an RXC contingency table test. Differences between major population groups (i.e., between African, Caucasian, and Asian) are quite evident, and similar ethnic population groups carried similar SSO polymorphism frequencies. There were only a few SSO types that showed significant differences between subpopulation groups. The SSO data alone can not be used to describe the population genetics with complete sequence data. However, the results of the SSO comparisons are similar to other analyses, and differences in sequence data in regions HVI and HVII are greater between major population groups than between subgroups. (C) 1999 Elsevier Science Ireland Ltd. All rights reserved.