Korean J Phys Anthropol.  2018 Sep;31(3):77-82. 10.11637/kjpa.2018.31.3.77.

Determination of Repeat Numbers of (CA)n in Mitochondrial D-loop using Polymerase Chain Reaction-single Strand Conformational Polymorphism (PCR-SSCP)

Affiliations
  • 1Department of Anatomy, College of Medicine, Yeungnam University, Korea.
  • 2Department of Medical Genetics, School of Medicine, Keimyung University, Korea. dkkimmd@kmu.ac.kr
  • 3Hanvit institute for Medical Genetics, Korea.

Abstract

Polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) analysis is a kind of sensitive mutation detection method that has been usually used in field of medical genetics. A single DNA strand with a mutation or nucleotide polymorphism has a different conformation from its wild-type counterpart, and these conformational differences result in different electrophoretic mobility. In previous study of mitochondrial microsatellite instability in 50 uterine leiomyomas, PCR-SSCP showed 4 types of band mobility at (CA)n of the mitochondrial D-loop. In type 1 and 4, positions of the lower single stand of both were same but those of upper strand were different. In sequencing analysis, repeat number of (CA)n in type 1 was 4, 5 in type 2, 6 in type 3, and 4 in type 4, respectively. Without using expensive sequencing analysis, PCR-SSCP method can be used to detect the repeat number of (CA)n in mitochondrial D-loop.

Keyword

PCR-SSCP; Mitochondrial D-loop; (CA)n repeat number

MeSH Terms

DNA
Genetics, Medical
Leiomyoma
Methods
Microsatellite Instability
DNA
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