[Type I protein C deficiency caused by a novel protein C gene mutation].
OBJECTIVE
To study the phenotype and genotype of a thrombophilia family.


METHODS
Antigens and activities of protein C, antithrombin III, protein S, plasminogen and activated protein C resistance were assayed in 13 members from four generations of the family.


RESULTS
Type I protein C deficiency was revealed in 5 members including the 3 members with deep vein thrombosis. All the exons and intron/exon junctions of the protein C gene were amplified by PCR. No abnormal band was found in SSCP assay. DNA sequencing identified a novel mutation 3444C-->A in exon VI of protein C gene leading to His134Asn. This mutation erased a Hph I site. PCR/Hph I analysis demonstrated that 6 members including 5 protein C deficiency members had the same mutations.


CONCLUSIONS
His134Asn is a novel mutation causing type I protein C deficiency.
Research Center of Molecular Biology, Hunan Medical University, Changsha 410078.
Y
Y
Zheng
D
D
Zhu
B
B
Zhou
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000990:Antithrombin III / Q000235:genetics; D001224:Aspartic Acid / Q000235:genetics; D006639:Histidine / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency / Q000235:genetics*
D011486:Protein C; D001224:Aspartic Acid; D006639:Histidine; D000990:Antithrombin III