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
in Chinese
| 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>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Antithrombin III
/
Antithrombin III Deficiency
/
Genetics
/
Heterozygote
/
Metabolism
/
Mutation
Type of study:
Prognostic study
Limits:
Adult
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Hematology
Year:
2007
Type:
Article
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