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Polymorphism of the D12S391 microsatellite in a Japanese population sample
1Department of Legal Medicine, Okayama University Medical School, Japan.
Forensic Science International
|July 29, 1999
Summary
This study analyzes short tandem repeat (STR) polymorphism at the D12S391 locus in 350 Japanese individuals using polymerase chain reaction (PCR). Researchers identified 14 alleles and discovered 18 suballeles, with sequence variants noted.
Area of Science:
- Forensic Genetics
- Human Population Genetics
Background:
- Short tandem repeat (STR) loci are crucial for human identification and population genetics studies.
- Polymorphisms within STR loci provide valuable genetic markers.
Purpose of the Study:
- To characterize the STR polymorphism at the D12S391 locus in a Japanese population.
- To identify and analyze suballeles and sequence variants within this locus.
Main Methods:
- Polymerase chain reaction (PCR) was employed to amplify the D12S391 locus.
- Single-strand conformation polymorphism (SSCP) analysis and DNA sequencing were used to detect and characterize alleles and suballeles.
Main Results:
- A total of 14 distinct alleles, ranging from 209 bp to 261 bp, were identified among 350 Japanese individuals.
- Allele 18 (221 bp) exhibited the highest frequency (0.30).
- Eighteen additional sequence structures (suballeles) were detected, including variants where the (AGAT) repeat was replaced by (AGGT) in five samples.
Conclusions:
- The D12S391 locus is highly polymorphic in the Japanese population.
- The Hardy-Weinberg equilibrium was satisfied, indicating population stability at this locus.
- SSCP analysis is an effective method for distinguishing suballeles prior to sequencing, enhancing genetic analysis accuracy.