Antithrombin deficiency due to heterozygous antithrombin gene mutation and a pedigree study / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 587-589, 2007.
Article
Dans Chinois
| WPRIM
| ID: wpr-262980
ABSTRACT
<p><b>OBJECTIVE</b>To identify the antithrombin (AT) phenotype and gene mutation of a kindred with hereditary antithrombin deficiency.</p><p><b>METHODS</b>Plasma AT activity and AT antigen level of the propositus and his kindred members were determined with chromogenic substrate method and immunoassay, respectively. All the seven exons and intron-exon boundaries of antithrombin gene were analyzed by PCR and direct sequencing of amplified PCR products from the propositus.</p><p><b>RESULTS</b>The propositus AT antigen level was normal but his AT activity was only 65% of normal value suggesting that he had type II AT deficiency. A heterozygous G13830A mutation in exon 6 resulting in Arg393His missense mutation in his AT polypeptide was identified in the propositus. The same phenotype and gene mutation were found in other 3 kindred members.</p><p><b>CONCLUSION</b>The type II AT deficiency found in this kindred is caused by heterozygous G13830A mutation in AT gene.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Antithrombine-III
/
Déficit en antithrombine III
/
Génétique
/
Hétérozygote
/
Métabolisme
/
Mutation
Type d'étude:
Étude pronostique
Limites du sujet:
Adulte
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Hematology
Année:
2007
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS