[Investigation on VNTR in intron 40 of vWF gene in Chinese Han population].

The VNTR in the intron 40 of vWF gene was investigated with a method of combination of Amp-FLP and RFLP. Two amplified fragments from a heterozygous person were separated by a non-hydratable polyacrylamide electrolyte gradient electrophoresis. After elution from gel, the preliminary products were amplified again, the amplified fragments were digested with AluI, then the genotype could be directly determined through electrophoresis. For the first time SSCP was used to detect the subtypes of microsatellite DNA. 136 alleles were found from 156 unrelated Hans in Changsha area. There were 153 genotypes in this sample and all of them were heterozygous. The calculated heterozygosity was 0.9884. The distribution of genotypes was in according with the Hardy-Weinberg equilibrium. The polymorphic information content (PIC) was 0.9883. The polymorphism of this VNTR was the highest one in the Amp-FLPs that had been found before. Our data did not show any recombination even in 2 generations of 66 families and 3 generations of 5 families. Aco-dominant segregation was demonstrated.