Molecular Genetic Diagnosis of Hemophilia A by Linkage Analysis of XbaI/intron 22 DNA Polymorphism Using PCR.
- Author:
Young Min CHOI
1
;
Sung Hyo PARK
;
Ko Eun BACK
;
Do Yeong HWANG
;
Jin CHOE
;
Seung Yup KU
;
Chang Suk SUH
;
Seok Hyun KIM
;
Jung Gu KIM
;
Mi Ran LEE
;
Eun Joo KIM
Author Information
1. Department of Obstetrics and Gynecology, Seoul National University, Korea.
- Publication Type:Original Article
- Keywords:
Hemophila A;
XbaI;
PCR;
Molecular genetic diagnosis;
Carrier detection;
Prenatal diagnosis
- MeSH:
Diagnosis*;
DNA*;
Factor VIII;
Hemophilia A*;
Humans;
Molecular Biology*;
Mothers;
Polymerase Chain Reaction*;
Prenatal Diagnosis
- From:Korean Journal of Obstetrics and Gynecology
2003;46(4):771-775
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
OBJECTIVE: To set up the methodology for PCR analysis of XbaI/intron 22 polymorphism of the factor VIII gene, and to identify the usefulness of XbaI/intron 22 polymorphism analysis for carrier detection and prenatal diagnosis of hemophilia A in the Korean population. DESIGN: A laboratory analysis. MATERIALS AND METHODS: A XbaI/intron 22 polymorphism of the factor VIII gene was analyzed in 56 unrelated Korean mothers of patients with severe hemophilia A, using polymerase chain reaction. RESULTS: Analysis of XbaI/intron 22 polymorphisms of the factor VIII gene were feasible by PCR method. The expected heterozygosity rates of XbaI/intron 22 polymorphism of the factor VIII gene were 44.8%. Analysis of XbaI/intron 22 polymorphism revealed heterozygous patterns in 22 (39.3%) of 56 mothers studied. Using linkage analysis with XbaI/intron 22 polymorphism, we have attempted one case of carrier detection and two cases of prenatal diagnosis in two families of patients with severe hemophilia A. CONCLUSION: These results suggest that PCR analysis of the XbaI/intron 22 polymorphism within the factor VIII gene is very useful in the carrier detection and prenatal diagnosis of hemophilia A in the Korean population.
