Analysis of an hereditary coagulation factor XII deficiency in a consanguineous pedigree / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 666-669, 2011.
Article
Dans Chinois
| WPRIM
| ID: wpr-295558
ABSTRACT
<p><b>OBJECTIVE</b>To analyze genetic mutation and explore its molecular pathogenesis for an hereditary coagulation factor XII(F XII) deficiency in a pedigree featuring consanguineous marriage.</p><p><b>METHODS</b>Activated partial thromboplastin time (APTT), F XII procoagulant activity (F XIIC), F XII antigen (F XIIAg) and other coagulant parameters were assayed. For the proband and his family members, exons 1-4, introns including the splice junctions of the F XII gene were amplified with polymerase chain reaction (PCR). The PCR product was purified and sequenced. The mutations were confirmed by sequencing the complimentary strand.</p><p><b>RESULTS</b>The proband has featured prolonged APTT at 157.5 s (reference range, 27.0-41.0 s). The APTT of his son has increased slightly at 48.3 s. The remaining members of the family were in normal range. F XII activity and F XII antigen of the proband were significantly decreased (<1%). The F XII activity of his wife, daughter, son and mother was also dropped to about 51%, 21%, 21% and 50%, respectively, and so was the F XII antigen (42%, 32%, 37% and 48%, respectively). Homozygous missense mutation of G→A transition at position 8699 in exon 14 resulting in Gly542Ser was identified in the proband. His mother, son and daughter were heterozygous for Gly542Ser. In the promoter regions of F XII gene, the genotype of the proband and the other members was 46T/T.</p><p><b>CONCLUSION</b>Homozygous missense mutation Gly542Ser was found in a pedigree of hereditary F XII deficiency. The homozygous missense mutation might have resulted from his parents by consanguineous marriage. Gly542Ser and 46T/T have contributed to the pathogenesis of the hereditary factor XII deficiency pedigree.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Sang
/
Tests de coagulation sanguine
/
Facteur XII
/
Séquence nucléotidique
/
Exons
/
Consanguinité
/
Polymorphisme de nucléotide simple
/
Déficit en facteur XII
/
Génétique
Type d'étude:
Étude pronostique
Limites du sujet:
Adulte
/
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2011
Type:
Article
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