[Antithrombin deficiency due to heterozygous antithrombin gene mutation and a pedigree study].
Zhonghua Xue Ye Xue Za Zhi
; 28(9): 587-9, 2007 Sep.
Article
en Zh
| MEDLINE
| ID: mdl-18246812
ABSTRACT
OBJECTIVE:
To identify the antithrombin (AT) phenotype and gene mutation of a kindred with hereditary antithrombin deficiency.METHODS:
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.RESULTS:
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.CONCLUSION:
The type II AT deficiency found in this kindred is caused by heterozygous G13830A mutation in AT gene.
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Banco de datos:
MEDLINE
Asunto principal:
Antitrombina III
/
Deficiencia de Antitrombina III
/
Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Humans
/
Male
Idioma:
Zh
Revista:
Zhonghua Xue Ye Xue Za Zhi
Año:
2007
Tipo del documento:
Article
País de afiliación:
China