Lee Hwan Young, Chung Ukhee, Yoo Ji-Eun, Park Myung Jin, Shin Kyoung-Jin
Department of Forensic Medicine, College of Medicine, Seoul, Korea.
Electrophoresis. 2004 Jan;25(1):28-34. doi: 10.1002/elps.200305681.
Quantitative and qualitative analysis of mitochondrial DNA length heteroplasmy for the first hypervariable segment (HV1) and second hypervariable segment (HV2) regions were performed using size-based separation of fluorescently-labeled polymerase chain reaction (PCR) products by capillary electrophoresis. In this report, the relative proportions of length heteroplasmies in individuals were determined, and each length variant in the heteroplasmic mtDNA mixture was identified. The study demonstrated that 36% and 69% of Koreans show length heteroplasmy in the HV1 and HV2 regions, respectively. Electropherograms revealed that length heteroplasmy in the HV1 region resulted in over 5 length variants in an individual. The peak patterns of length heteroplasmy in the HV1 region were classified into five major types. In the HV2 region, length heteroplasmy resulted in 3-6 length variants in an individual, and showed seven variant peak patterns. The increased knowledge concerning mtDNA length heteroplasmy is believed to not only offer a useful means of determining genetic identity due to increased mitochondrial DNA haplotype diversity by allowing mtDNAs to be classified into several peak patterns, but also represent a promising tool for the diagnosis of several common diseases which are etiologically or prognostically associated with mtDNA polymorphisms.
采用毛细管电泳对荧光标记的聚合酶链反应（PCR）产物进行基于大小的分离，对线粒体DNA第一高变区（HV1）和第二高变区（HV2）的长度异质性进行了定量和定性分析。在本报告中，确定了个体中长度异质性的相对比例，并鉴定了异质性线粒体DNA混合物中的每个长度变体。研究表明，分别有36%和69%的韩国人在HV1和HV2区域表现出长度异质性。电泳图显示，HV1区域的长度异质性在个体中导致超过5种长度变体。HV1区域长度异质性的峰型分为五种主要类型。在HV2区域，长度异质性在个体中导致3 - 6种长度变体，并呈现出七种变体峰型。关于线粒体DNA长度异质性的知识增加，不仅被认为是一种有用的手段，通过将线粒体DNA分类为几种峰型来确定由于线粒体DNA单倍型多样性增加而产生的遗传身份，而且还代表了一种有前途的工具，用于诊断几种与线粒体DNA多态性在病因或预后上相关的常见疾病。
