Novel Mutation in the Factor Vii Gene of Taiwanese Factor Vii-Deficient Patients
Resource
BRITISH JOURNAL OF HAEMATOLOGY v.112 n.3 pp.566-571
Journal
BRITISH JOURNAL OF HAEMATOLOGY
Journal Volume
v.112
Journal Issue
n.3
Pages
566-571
Date Issued
2001
Date
2001
Author(s)
SHEN, MING-CHING
LIN, JEN-SHIOU
LIN, SHU-WHA
YANG, WEI-SHIUNG
LIN, BO-DO
Abstract
The genetic defects of four Taiwanese patients with factor VII (FVII) deficiency were studied. FVII activity and antigen levels were <1 u/dL and 125.7 u/dL (Patient I), <1 u /dL and <1 u/dL(Patient II), 3.4 u/dL and 5. 9 u/dL(Patient III), and 1.2 u/dL and 30.4 u/dL(Patient IV) respectively. The 5' flanking region, and all exons and junctions were amplified using polymerase chain reaction and sequenced. Patient I was homozygous for a 10824C->A transversion with Pro303->Thr mutation in exon 8. In Patient II, a heterozygous transversion, 9007+1G->T at the IVS6, a heterozygous decanucleotide insertion polymorphism at -323 ( both mutations present in his father) and a heterozygous deletion, del TC (26-27) in exon 1A( originating from his mother) were identified. Patient III had a homozygous 10961T ->G trnasversion with His348->Gln mutation in exon 8. Patient IV had a heterozygous 10902T->G transversion with Cys329->Gly mutation in exon 8 (transmitted to her second son) and a heterozygous decanucleotide insertion polymorphism at -323 (transmitted to her third son). All but one of the FVII gene mutations detected in the four patients have not been previously reported. In conclusion, four novel mutations of the FVII gene in Taiwanese, including two missense mutation in exon 8, one point mutation at the exon 6 splice site and one deletion in exon 1A, were identified.
Subjects
Factor VII
Factor VII deficiency
Factor VII gene
Factor VII mutation
Taiwanese Chinese