Research on the BCL I Polymorphism of Haemophilia A in Han Chinese Population in Wenzhou / 中国慢性病预防与控制

ABSTRACT

Objective In order to find the polymorphism site applicable to efficient genetic diagnosis on Haemophilia A in Han Chinese Population in Wenzhou.Methods With the method of polymerase chain reaction(PCR) and polyacrylamide gel electrophoresis(PAGE),288 of X chromosomes from 96 men and 96 women were detected on the polymorphism of BCL I in the intron 18 of FV Ⅲ gene.Results The gene frequency of the polymorphic site BCL I was 34.38% in Han Chinese population in Wenzhou.43.75% women were heterozygous and the polymorphism information content(PIC) was 0.4512.Conclusion For Han Chinese population in Wenzhou,the BCL I genetic site has enough information,being one of the genetic markers with high polymorphism,applicable to the screening for carrier and prenatal diagnosis of Haemophilia A in Wenzhou.