Gene analysis of five inherited factor V deficiency cases / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 145-148, 2008.
Article
Dans Chinois
| 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>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Phénotype
/
Sang
/
Proaccélérine
/
Analyse de mutations d'ADN
/
Exons
/
Déficit en facteur V
/
Génétique
/
Métabolisme
/
Mutation
Type d'étude:
Étude pronostique
Limites du sujet:
Adolescent
/
Adulte
/
Enfant
/
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Hematology
Année:
2008
Type:
Article
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