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혈우병 A 산전진단을 위한 유전자특이탐침 F814와 p482.6의 다형현상에 관한 연구

Molecular Genetic Study of Gene Specific Probes, F814 and p482.6 in Koreans for the Diagnosis of Hemophilia A

대한산부인과학회지 1994년 37권 9호 p.1737 ~ 1744
정성노
김성진/이재억/이춘근/류명수/조율희

Abstract


A number of restriction fragment length polymorphisms(RFLPs) have been found in and around the gene for clotting factor VIII and some of these polymorphic markers are sucessful applied to linkage analysis of hemophilia A family. In this study, we
analysed on hundred and fifty one unrelated normal X chromosomes(49 males and 51 females) to determine the frequency of alleles for F814/Bcll and p482.6/XbaI RFLPs within FVIII: C gene in Korean population.
The Bcll and XbaI polymorphic sites are reside in intro 18 and intron 22 of FVIII gene, respectively. The hybrid probe called F814 detect in BciI digests both the DXS52 multialleic polymorphism and the FVIII RFLP. The allele frequencies of
FVIII/BciI
polymorphism detected by this probe were 79.47%(al, 0.87kb) and 20.5%(a2, 1.16kb). Using the probe p482.6 and restriction enzyme XbaI and KpnI revealed two allele pclymorphisms in a frequency of 60.93%(b1.1.4kb)and 39.07%(b2,6.2kb). The
polymorphism
information contents(PIC)estimated from each gene frequencies were 0.33 for BclI and 0.48 for Xbal RFLPs.
The BclI and XbaI heterozygote rates observed in 51 females were 39%(20/51)and 51%(26/51), respectively. 63%(32/51) of the Korean females evaluated were heterozygote in one or both RFLPs. Although there are some linkage desequilibrium between
BciI
and
XbaI sites, XbaI RFLP add the informativity about 26% in which the BciI polymorphism is not informative. For the haplotypes, albl was found to be most common(61.8%) and a2b1 was rare(1.6%).
The above results indicate that these two intragenic probes are very useful for prenatal diagnosis of hemophilia A and for detection of its carriers in Korean population as in other ethnic groups.

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