Factor VIII Gene Mutations in Korean Patients with Hemophilia A.
- Author:
Young Min CHOI
1
;
Eun Joo KIM
;
Mi Ran LEE
;
Young Soo SON
;
Jin CHOE
;
Doyeong HWANG
;
Jong Kwan JUN
;
Byung Chul JEE
;
Seung Yup KU
;
Chang Suk SUH
;
Seok Hyun KIM
;
Jung Gu KIM
;
Shin Yong MOON
Author Information
1. Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Korea.
- Publication Type:Original Article
- Keywords:
Hemophila A;
Mutation;
Factor VIII gene
- MeSH:
Codon, Nonsense;
Exons;
Factor VIII*;
Hemophilia A*;
Humans;
Mutation, Missense;
Pathology, Molecular;
Point Mutation
- From:Korean Journal of Obstetrics and Gynecology
2004;47(10):1975-1981
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
OBJECTIVE: To identify mutations within the factor VIII gene in Korean patients with severe hemophilia A. DESIGN: A laboratory analysis. METHODS: We systematically sequenced the promoter, all exons and splice junctions of factor VIII gene in 23 unrelated Korean patients with severe hemophilia A. Patients with factor VIII gene inversion were excluded. RESULTS: Twelve patients (52.2%) showed a point mutation, among which 6 were nonsense mutations and the other 6 were missense mutations. A large deletion was found in 6 (26.1%) patients, a small deletion in 2 (8.7%), a small insertion in one patient. Two patients had compound mutations: one patient had two missense mutations, and the other had a missense mutation and 4 bp insertion. Ten (43.5%) out of 23 mutations found are novel. CONCLUSION: Mutations within the factor VIII gene found in Korean patients with moderate to severe hemophilia A are diverse as expected. And we have found 10 novel mutations. Our results can help understanding the molecular pathology of hemophilia A.
