Chinese Journal of Medical Genetics 2014;31(6):782-785

doi:10.3760/cma.j.issn.1003-9406.2014.06.023

Analysis of linkage disequilibrium and linkage for 12 short tandem repeat loci on chromosome X.

Qiansu YE 1 ; Jianpin TANG ; Zucong CHEN ; Fagui LI ; Xin YU ; Ping WANG ; Hanguang LIN ; Meisen SHI

Affiliations

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Country

China

Language

Chinese

Abstract

OBJECTIVETo analyze linkage disequilibrium of 12 short tandem repeat loci on chromosome X (X-STR) among an ethnic Han population from Guilin, Guangxi, and to study the genetic linkage and haplotype distributions of such loci in 2 linkage groups.

METHODS12 X-STR loci including DXS8378, DXS10159, DXS10162, DXS10164, DXS981, DXS6789, DXS7424, DXS101, DXS7133, GATA165B12, GATA31E08 and DXS7423 were genotyped using an AGCU X12 STR PCR Amplification kit. A total of 119 pedigrees were analyzed for linkage and linkage disequilibrium.

RESULTSTwo mutations were found at DXS7424, and 1 mutation was found at DXS10164. A total of 93 haplotypes of DXS10159-DXS10162-DXS10164 were constructed for 261 unrelated males and females, in addition with 167 haplotypes of DXS6789-DXS7424-DXS101-DXS7133. The values of recombination fraction between DXS10159 and DXS10162, DXS10162 and DXS10164, DXS6789 and DXS7424, and DXS7424 and DXS101 were 0.0269, 0.0236, 0.0505 and 0.0438, respectively.

CONCLUSIONLinkage disequilibrium of X-STR does not only depend on physical and genetic distances. There was incomplete linkage relationship between loci on DXS10159-DXS1016-DXS10164 and DXS6789-DXS7424-DXS101 linkage groups.