[Inherited coagulation factor VII deficiency caused by double heterozygotic mutations Arg304Gln and Arg304Trp].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 20(4): 279-83, 2003 Aug.
Article
em Zh
| MEDLINE
| ID: mdl-12903033
ABSTRACT
OBJECTIVE:
To investigate the genotypes of mutations of an inherited coagulation factor VII(F VII) deficiency pedigree.METHODS:
The diagnosis was validated by coagulant parameters. F VII gene mutations were analysed in the proband and her family members by DNA direct sequencing. The PCR fragments were cleaved by the Msp I restriction enzyme to confirm the mutations detected by sequencing was performed in this study.RESULTS:
Double heterozygous mutations at the same coding site of amino acid were detected in propositus of the pedigree a C to T mutation at position 11348 resulting in Arg304Trp substitution combined with a G to A mutation at position 11349 resulting in Arg304Gln substitution. Her farther had a G to A mutation at position 11349 and her mother had a C to T mutation at position 11348, respectively. Both were heterozygous mutations. One of her brothers had normal genotype, the other brother and all her three offsprings had heterozygous mutations.CONCLUSION:
Double heterozygous mutations coding the same amino acid were found in a pedigree with hereditary coagulation factor VII deficiency.
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Base de dados:
MEDLINE
Assunto principal:
Fator VII
/
Deficiência do Fator VII
/
Mutação
Limite:
Female
/
Humans
/
Male
Idioma:
Zh
Ano de publicação:
2003
Tipo de documento:
Article