[Association of genetic polymorphism of 14 STR loci on chromosome 2 with Kashin-Beck disease].

Objective To analyze the differences of genetic polymorphism of 14 STR loci on chromosome 2 between KBD patients and controls living in and outside of KBD catchment areas.Methods Blood samples anticoagulated with EDTA were collected from 135 unrelated individuals of Han population in Shaanxi Province,which included 45 samples from KBD patients,45 from normal residents living in the KBD catchment areas,and 45 from normal residents outside of the KBD catchment areas.The DNA was extracted from the blood samples for PCR amplification of relevant fragments.The amplified products were analyzed using the ABI 3730 Genetic Analyzer.Results The allele numbers for 14 STR loci(D2S286,D2S165,D2S160,D2S2211,D2S367,D2S125,D2S206,D2S117,D2S142,D2S2333,D2S126,D2S325,D2S364,D2S337) in the KBD patients were 8,11,7,7,9,10,11,11,8,10,11,10,6 and 9,respectively.Different allele numbers for 14 STR loci were found in the normal residents in the KBD catchment areas(7,10,6,7,7,8,10,10,8,8,11,8,7 and 7) and those outside of the KBD catchment areas(8,11,7,7,10,9,11,11,7,9,11,7,8 and 7).There were significant differences in the allele frequencies in the D2S165 and D2S2333 locus between the KBD patients and the normal residents living in and outside of the KBD catchment areas(P0.05).Significant difference in the allele frequencies in the D2S160 loci was found between the KBD patients and the normal residents living in the KBD catchment areas(P=0.046).Significant difference in the allele frequencies in the D2S364 loci was found among the three groups of participants(P=0.046).Conclusion The allele distribution patterns of the D2S165 and D2S2333 locus in KBD patients are different from normal people.