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Genetic polymorphism and haplotype analysis of 4 tightly linked X-STR duos in Koreans

 Eun Jin Lim  ;  Hwan Young Lee  ;  Jeong Eun Sim  ;  Woo Ick Yang  ;  Kyoung-Jin Shin 
 CROATIAN MEDICAL JOURNAL, Vol.50(3) : 305-312, 2009 
Journal Title
Issue Date
Asian Continental Ancestry Group/genetics* ; Female ; Genes, X-Linked* ; Genetic Linkage* ; Haplotypes* ; Humans ; Korea ; Male ; Microsatellite Repeats* ; Polymerase Chain Reaction ; Polymorphism, Genetic* ; Sequence Analysis, DNA
AIM: To investigate genetic polymorphism and haplotypes of tightly linked X-chromosomal short tandem repeat (X-STR) clusters in Koreans.

METHODS: Four X-STR duos in the linkage group 1-4 (DXS10135-DXS8378, DXS7132-DXS10074, HPRTB-DXS10101, and DXS10134-DXS7423) were investigated in 450 unrelated Koreans (300 men and 150 women) using the Mentype Argus X-8 Polymerase Chain Reaction Amplification Kit.

RESULTS: No significant deviation from Hardy-Weinberg equilibrium was observed in any of the 8 loci. DXS10135 was the most polymorphic X-STRs, with 25 alleles and DXS7423 was the least informative, with 5 alleles. Eleven off-ladder alleles and a triallelic pattern were observed, and these alleles were characterized by cloning and sequencing analysis. In 300 Korean men, 38 to 59 haplotypes were observed for each linkage duo with 91.6-96.6% of haplotype diversities. However, due to the low genetic diversity of DXS7423, the X-STR duo in linkage group 4 (DXS10134-DXS7423), in comparison with other linkage duos, had considerably lower haplotype diversity values (91.6%) with 3 common haplotypes (35-15, 36-15, and 37-15) observed in 44.3% of Koreans.

CONCLUSION: Four X-STR duos in the linkage group 1-4 will be able to provide a powerful tool for solving complex kinship cases in Koreans. However, to increase the haplotype diversity in the linkage group 4, it will be useful to discover a new marker for Asians that can serve as an adequate substitute for DXS7423 or at least complement the existing linkage duo of DXS10134-DXS7423
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1. College of Medicine (의과대학) > Dept. of Forensic Medicine (법의학과) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
Yonsei Authors
Shin, Kyoung Jin(신경진) ORCID logo https://orcid.org/0000-0002-1059-9665
Sim, Jeong Eun(심정은)
Yang, Woo Ick(양우익) ORCID logo https://orcid.org/0000-0002-6084-5019
Lee, Hwan Young(이환영)
Lim, Eun Jin(임은진)
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