Hanoi Medical University, Hanoi, Vietnam.
Hanoi Medical University Hospital, Hanoi, Vietnam.
Adv Exp Med Biol. 2020;1292:37-63. doi: 10.1007/5584_2018_301.
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.
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.
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%.
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.
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。
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。
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%。
我们评估了 517 名京族、苗族、占族和高棉族个体的 mtDNA HV1 和 HV2 的遗传多态性。该结果有助于更好地了解越南人的线粒体基因组多样性，并有助于群体和法医学研究。
