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Rapid Polymerase Chain Reaction Analysis of St14 (DXS52) VNTR: Carrier Detection of Hemophilia A
Author(s) -
Yang Young Ho,
Song Kyung Soon,
Kim In Kyu,
Cha Dong Hyun
Publication year - 1997
Publication title -
journal of obstetrics and gynaecology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 50
eISSN - 1447-0756
pISSN - 1341-8076
DOI - 10.1111/j.1447-0756.1997.tb00864.x
Subject(s) - allele , locus (genetics) , genetics , medicine , daughter , restriction fragment length polymorphism , polymerase chain reaction , biology , gene , evolutionary biology
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‐chrombsomes 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. Conclusion : PCR analysis of St14 VNTR was a useful tool for carrier detection of hemophilia A.