Korean J Obstet Gynecol.  2009 May;52(5):552-558.

Carrier detection and prenatal diagnosis of hemophilia A in a Korean population by fluorescent pcr analysis of dinucleotide repeats in intron 13 and intron 22 of the factor VIII gene

• Lee MR
• Park SH
• Choi YM
• Jun JK
• Lee GH
• Choe J
• Hwang DY
• Ku SY
• Moon SY
• Kim EJ

Abstract

OBJECTIVE
To set up the methodology for fluorescent PCR analysis of intron 13 and intron 22 microsatellite polymorphisms of the factor VIII gene, and to identify the usefulness of intron 13 and intron 22 microsatellite polymorphism for the carrier detection and prenatal diagnosis of hemophilia A in the Korean population.
METHODS
Intron 13 and intron 22 microsatellite polymorphisms of the factor VIII gene were analyzed in 30 unrelated Korean mothers of patients with severe hemophilia A using fluorescent PCR.
RESULTS
Analysis of intron 13 and intron 22 microsatellite polymorphisms of the factor VIII gene was feasible by the fluorescent-PCR method. The expected heterozygosity rates of intron 13 and intron 22 polymorphisms of the factor VIII gene were 67% and 34%, respectively. Combined analysis of intron 13 and intron 22 polymorphisms revealed heterozygous patterns in 16 (53%) of 30 mothers studied. Using linkage analysis with intron 13 and intron 22 polymorphisms, we have attempted three cases of carrier detection and one cases of prenatal diagnosis in two families of patients with severe hemophilia A.
CONCLUSION
These results suggest that flourescent-PCR analysis of the intron 13 and intron 22 microsatellite polymorphisms within the factor VIII gene is very useful in the carrier detection and prenatal diagnosis of hemophilia A in the Korean population.

Keyword

Hemophilia A; Intron 13; Intron 22; Dinucleotide repeats; Fluorescent-PCR

MeSH Terms

Dinucleotide Repeats
Factor VIII
Hemophilia A
Humans
Introns
Microsatellite Repeats
Mothers
Polymerase Chain Reaction
Prenatal Diagnosis
Factor VIII