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


CONCLUSIONS
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.
Lim
Eun Jin
EJ
Department of Forensic Medicine, Yonsei University College of Medicine, 250 Seongsanno, Seodaemun-Gu, Seoul, Korea.
Lee
Hwan Young
HY
Sim
Jeong Eun
JE
Yang
Woo Ick
WI
Shin
Kyoung-Jin
KJ
D044466:Asian People / Q000235:genetics*; D005260:Female; D050172:Genes, X-Linked; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007723:Korea; D008297:Male; D018895:Microsatellite Repeats; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA