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Quantitative and qualitative profiling of mitochondrial DNA length heteroplasmy

Authors
 Hwan Young Lee  ;  Ukhee Chung  ;  Kyoung-Jin Shin  ;  Myung Jin Park  ;  Ji-Eun Yoo 
Citation
 ELECTROPHORESIS, Vol.25(1) : 28-34, 2004 
Journal Title
ELECTROPHORESIS
ISSN
 0173-0835 
Issue Date
2004
MeSH
DNA, Mitochondrial/genetics* ; Genetic Variation/genetics* ; Genome, Human ; Haplotypes ; Humans ; Korea ; Polymerase Chain Reaction/methods ; Prevalence ; Sequence Analysis, DNA/methods* ; Sequence Analysis, DNA/statistics & numerical data
Keywords
Length heteroplasmy ; Mitochondrial DNA ; Profile
Abstract
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.
Full Text
http://onlinelibrary.wiley.com/doi/10.1002/elps.200305681/abstract
DOI
10.1002/elps.200305681
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Forensic Medicine (법의학과) > 1. Journal Papers
Yonsei Authors
Shin, Kyoung Jin(신경진) ORCID logo https://orcid.org/0000-0002-1059-9665
Lee, Hwan Young(이환영)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/111297
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