Research On The Polymorphism Of FVⅢ Gene DXS15, CA13, CA22 Locus Of Guangdong Population

Aim:To study the polymorphism of 3 microsatellite DNA DXS15, CA13, CA22 tightly linked to FVIII gene in Guangdong population and their application in the diagnosis of hemophilia A.Method:292 unrelated females from Guangdong province were randomly selected, and extract genomic DNA from the whole blood. Polymerase Chain Reaction (PCR) and Capillary Electrophoresis (CE) were adopted to test the variability of the 3 microsatellite repeats in Guangdong female, including 111 females,222 X chromosomes for detecting DXS15 polymorphism; 87 females,174 X chromosomes for detecting CA13 polymorphism; 94 females,188 X chromosomes for detecting CA22 polymorphism. The result was tested by Hardy-Weinberg equilibrium.Result:11 alleles corresponding to DXS15 locus were found, with size ranging from 140 to 160bp. The polymorphism information content (PIC) of this microsatellite repeats was 0.82, its heterozygosity was 82%. 6 alleles corresponding to CA13 were found, with size ranging from 145 to 155bp, and PIC was 0.56, heterozygosity was 56.2%.4 alleles corresponding to CA22 were found, with size ranging from 79bp to 85bp, and PIC was 0.41, heterozygosity was 50%. The distribution of 3 microsatellite DNA conformed to Hardy-Weinberg equilibrium.Conclusion:In contrast to the information about Caucasian, the polymorphism of these 3 microsatellite DNA differs from race to race, and region to region. The frequency of DXS15, CA13, CA22 locus conforms to Hardy-Weinberg equilibrium, insuring the reliability of their application to evaluate larger groups. DXS15, CA13, CA22 are highly polymorphic genetic markers useful for linkage analysis of hemophilia A, which may play a vital role in detection and prenatal diagnosis of hemophilia A.