Genetic analysis of a pedigree with hereditary coagulation factor Ⅶ deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 222-225, 2015.
Article
em Zh
| WPRIM
| ID: wpr-239500
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WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify potential mutations in a family affected with inherited factor Ⅶ (FⅦ) deficiency.</p><p><b>METHODS</b>Prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen, FⅦ activity (FⅦ:C) and other coagulant parameters of the proband and 15 family members were measured. Potential mutations were screened in the pedigree by polymerase chain reaction and direct DNA sequencing.</p><p><b>RESULTS</b>The PT of the proband and his younger brother was significantly prolonged to 39.0 s and 30.1 s, respectively. FⅦ:C of the proband and his younger brother was obviously reduced to 2% and 3%, respectively. FⅦ:C of his grandmother, maternal grandmother, aunt, father, mother, maternal uncle and maternal aunt was all below the normal range (80%-108%), which measured 68%, 54%, 71%, 73%, 62%, 72% and 59%, respectively. The other coagulant parameters were in the normal range. Two heterozygous mutations, g.11349G>A and g.11482T>G, both reside in exon 8 of the F7 gene, have resulted in p.Arg304Gln and p.His348Gln substitutions, were identified in the proband. The same mutations were also found in the proband's younger brother. Four maternal members in this family (grandmother, mother, maternal uncle and maternal aunt of the proband) were heterozygous for the p.Arg304Gln mutation, while three paternal members (grandmother, aunt and father of the proband) were heterozygous for the p.His348Gln mutation.</p><p><b>CONCLUSION</b>The proband had inherited two independent mutations of the F7 gene including g.11349G>A and g.11482T>G from his mother and father, respectively. The compound heterozygous mutation probably explains the low FⅦ concentrations in this pedigree.</p>
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Índice:
WPRIM
Assunto principal:
Linhagem
/
Sangue
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Testes de Coagulação Sanguínea
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Fator VII
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Dados de Sequência Molecular
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Sequência de Bases
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Testes Genéticos
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Deficiência do Fator VII
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Genética
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Metabolismo
Tipo de estudo:
Prognostic_studies
Limite:
Adult
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Female
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2015
Tipo de documento:
Article