Gene analysis of five inherited factor V deficiency cases / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 145-148, 2008.
Artigo
em Chinês
| WPRIM
| ID: wpr-262918
ABSTRACT
<p><b>OBJECTIVE</b>To identify gene mutations involved in five cases of inherited factor V (FV) deficiency.</p><p><b>METHODS</b>Activity of FV was determined by one-stage clotting assay using FV-deficiency plasma, and FV antigen by an ELISA assay. All the exons and exon-intron boundaries of FV gene were amplified by PCR and then DNA sequencing. Restriction enzyme analysis was used to analyze the probands, their family members and healthy volunteers.</p><p><b>RESULTS</b>Both activity and antigen of FV in the 5 patients were extremely lower compared with that of normal mixed plasma. Six mutations were identified in these 5 patients, G69969T (G2079V), C45533T (R712Ter), C46796T (R1133Ter), G45366A (C656Y), C46253T (R952C) and G16088C (D68H), the latter three were novel mutations reported for the first time and the C46253T (R952C) was the first missense mutation reported in B domain. The result of sequencing or restriction enzyme analysis showed that the three novel missense mutations were not caused by single nucleotide polymorphisms.</p><p><b>CONCLUSION</b>Gene mutations in 5 type I inherited FV deficiency of patients including 2 nonsense mutations and 4 missense mutations identified which led to the instability of FV protein and the reducing of FV Ag in the plasma.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Fenótipo
/
Sangue
/
Fator V
/
Análise Mutacional de DNA
/
Éxons
/
Deficiência do Fator V
/
Genética
/
Metabolismo
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Adolescente
/
Adulto
/
Criança
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Hematology
Ano de publicação:
2008
Tipo de documento:
Artigo
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