Original scientific paper
Genetic Polymorphism and Haplotype Analysis of 4 Tightly Linked X-STR Duos in Koreans
Eun Jin Lim
; Department of Forensic Medicine and Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, Seoul, Korea
Hwan Young Lee
; Department of Forensic Medicine and Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, Seoul, Korea
Jeong Eun Sim
; Department of Forensic Medicine and Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, Seoul, Korea
Woo Ick Yang
; Department of Forensic Medicine and Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, Seoul, Korea
Kyoung-Jin Shin
; Human Identification Research Center, Yonsei University, Seoul, Korea
Abstract
Aim To investigate genetic polymorphism and haplotypes
of tightly linked X-chromosomal short tandem repeat (XSTR)
clusters in Koreans.
Methods Four X-STR duos in the linkage group 1-
4 (DXS10135-DXS8378, DXS7132-DXS10074, HPRTBDXS10101,
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.
Keywords
DXS10135; DXS8378; DXS7132; DXS10074; HPRTB; DXS10101; DXS10134; DXS7423; haplotyping; Koreans
Hrčak ID:
40690
URI
Publication date:
15.6.2009.
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