Rapid polymerase chain reaction analysis of St14 (DXS52) VNTR: carrier detection of hemophilia A.
OBJECTIVE
To determine the frequency of St14 VNTR allele in Koreans as a marker of the hemophilia A and to evaluate the efficacy of this marker for carrier detection of hemophilia A METHODS: PCR amplified RFLP analysis of St14 VNTR was done in 312 X-chromosomes of 122 unrelated Korean males and 95 females and the same method was applied to carrier detection in the 2 hemophilia A families.


RESULTS
There were 13 alleles of different sizes of St14 VNTR locus appeared in 312 X-chromosomes of unrelated Koreans. For carrier detection of hemophilia A, in the family A, the mother showed 1390/ 1330 bp alleles and the father showed 700 bp allele. The affected son has inherited 1390 bp allele from his mother. The daughter at risk showed 1330/700 bp alleles. In family B, the mother showed 1280/700 bp alleles and the stepfather showed 1390 bp allele. The affected son has inherited 1280 bp allele. The daughter at risk showed 1390/700 bp alleles. And so the daughters of the 2 families were not carriers for hemophilia A.


CONCLUSIONS
PCR analysis of St14 VNTR was a useful tool for carrier detection of hemophilia A.
Yang
Y H
YH
Department of Obstetrics and Gynecology, College of Medicine, Yonsei University, Seoul, Korea.
Song
K S
KS
Kim
I K
IK
Cha
D H
DH
D000483:Alleles; D004247:DNA / Q000032:analysis / Q000235:genetics; D005260:Female; D005544:Forecasting; D005787:Gene Frequency / Q000235:genetics*; D006580:Genetic Carrier Screening / Q000379:methods*; D005819:Genetic Markers / Q000235:genetics; D006467:Hemophilia A / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007723:Korea; D008297:Male; D018598:Minisatellite Repeats / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
D005819:Genetic Markers; D004247:DNA