Quantitative and qualitative profiling of mitochondrial DNA length heteroplasmy
Quantitative and qualitative profiling of mitochondrial DNA length heteroplasmy
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DOI：
10.1002/elps.200305681
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发表时间：
2004-01-01
期刊：
影响因子：
2.9
通讯作者：
Shin, KJ
中科院分区：
文献类型：
--
作者：
Lee, HY;Chung, U;Shin, KJ
通过毛细管电泳对荧光标记的聚合酶链式反应 (PCR) 产物进行基于大小的分离，对第一高变片段 (HV1) 和第二高变片段 (HV2) 区域的线粒体 DNA 长度异质性进行定量和定性分析。在这份报告中，确定了个体长度异质性的相对比例，并鉴定了异质性 mtDNA 混合物中的每个长度变异。研究表明，36% 和 69% 的韩国人在 HV1 和 HV2 区域分别表现出长度异质性。电泳图显示，HV1 区域的长度异质性导致个体出现超过 5 个长度变异。 HV1区域长度异质性的峰模式分为五种主要类型。在 HV2 区域，长度异质性导致个体出现 3-6 个长度变异，并显示出 7 个变异峰模式。有关 mtDNA 长度异质性的知识的增加被认为不仅提供了一种有用的方法来确定由于线粒体 DNA 单倍型多样性增加而导致的遗传同一性，通过允许 mtDNA 将 mtDNA 分为几种峰值模式，而且还代表了一种有前途的工具，用于诊断与 mtDNA 多态性在病因学或预后方面相关的几种常见疾病。
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.