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The St14(DXS 52)VNTR in a Guangdong Han population and detection of hemophilia A carriers

MA Aihua, ZENG RuiPing, HE Qicai. Department of Medical Genetics, Sun Yat sen University of Medical Sciences, Guangzhou 510089, China  
Objective To investigate the genetic polymorphism of the St14(DXS 52) variable number tandem repeat (VNTR) in normal individuals in Guangdong, and to evaluate the efficacy of this marker for the gene diagnosis of hemophilia A. Methods 125 unrelated healthy individuals (male 21, female 104) and 4 hemophilia A families were detected using amplified fragment length polymorphism (Amp FLP). Results 11 allelic fragments ranging from 700 to 1?810?bp in size and 7 different genotypes in males,17 different genotypes in females were observed, respectively. The allele frequencies were 0.004?4 to 0.480?3. The polymorphism information contents (PIC) was 0.733?5, and the heterozygosity was 0.432. Four families with hemophilia A were analyzed and 2 of them were informative for linkage analysis. In one family, 2 females were determined to be normal individuals, not carriers, one female carrier was detected in the other family. Conclusion St14(DXS 52) was a useful polymorphism marker for carrier detection of hemophilia A in southern Chinese population, and it was different from those in Caucasian.
【Fund】: 美国中华医学基金会(CMB)资助
【CateGory Index】: R554.1
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