越南人群线粒体 DNA HV1 和 HV2 的变异。

Variation of Mitochondrial DNA HV1 AND HV2 of the Vietnamese Population.

机构信息

Hanoi Medical University, Hanoi, Vietnam.

Hanoi Medical University Hospital, Hanoi, Vietnam.

出版信息

Adv Exp Med Biol. 2020;1292:37-63. doi: 10.1007/5584_2018_301.

DOI:10.1007/5584_2018_301

PMID:30838542

Abstract

BACKGROUND

The sequence polymorphism of mitochondrial DNA (mtDNA) hypervariable segment 1 (HV1) and hypervariable segment 2 (HV2) is studied and applied to genetic diversity and human evolution assessment, forensic genetics, consanguinity determination, and mitochondrial disease diagnosis.

METHODS

The study identified the variations of HV1 and HV2 of 517 unrelated Vietnamese individuals in Kinh, Muong, Cham, and Khmer ethnic. We performed sequencing of two hypervariable segments of mitochondrial DNA: HV1 and HV2.

RESULTS

Fifty haplogroups were identified in which F1a haplogroup frequency was highest at 15.7%, followed by B5a (10.8%), M (8.9%), and M7b1 (7.7%). The most frequently encountered SNPs in this study were A263G (100%), A73G (99.6%), 315insC (96%), 309insC (56%), C16223T (41%), and T16189C (39%). The genetic diversity was calculated at 99.83%, and the probability of random match of two individuals sharing the same mtDNA haplotype was 0.37%.

CONCLUSION

We have assessed the genetic polymorphism of mtDNA HV1 and HV2 of 517 Kinh, Muong, Cham, and Khmer ethnic samples. The result will help in better understanding of Vietnamese's mitochondrial genome diversity and aid in population as well as forensic science.

摘要

背景

线粒体 DNA（mtDNA）高变区 1（HV1）和高变区 2（HV2）的序列多态性被用于遗传多样性和人类进化评估、法医学遗传学、亲缘关系确定以及线粒体疾病诊断。

方法

本研究对 517 名来自京族、苗族、占族和高棉族的无血缘关系的越南个体的 HV1 和 HV2 进行了变异分析。我们对两个线粒体 DNA 高变区 HV1 和 HV2 进行了测序。

结果

鉴定出 50 种单倍群，其中 F1a 单倍群频率最高，为 15.7%，其次是 B5a（10.8%）、M（8.9%）和 M7b1（7.7%）。本研究中最常见的 SNP 是 A263G（100%）、A73G（99.6%）、315insC（96%）、309insC（56%）、C16223T（41%）和 T16189C（39%）。遗传多样性计算为 99.83%，两个具有相同 mtDNA 单倍型的个体随机匹配的概率为 0.37%。