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
June 2009
Croatian Medical Journal;Jun2009, Vol. 50 Issue 3, p305
Academic Journal
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 (DXS101 35-DXS8378, DXS71 32-DXS10074, HPRTB- DXS1 0101, and DXS1 01 34-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. DXS1 0135 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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