Phenotypic and genetic analysis of two pedigrees affected with hereditary coagulation FXII deficiency.
10.3760/cma.j.issn.1003-9406.2018.06.005
- Author:
Shanshan LI
1
;
Chenfang SHEN
;
Kuangyi SHU
;
Jie LIU
;
Xiaoou WANG
;
Fanfan LI
;
Xiao YANG
;
Zhaohua ZHANG
;
Bi CHEN
;
Minghua JIANG
Author Information
1. Department of Laboratory Medicine, the Second Affiliated Hospital, Wenzhou Medical University, Wenzhou, Zhejiang 325027, China. minghua93@126.com.
- Publication Type:Journal Article
- MeSH:
Exons;
Factor XII;
genetics;
Factor XII Deficiency;
genetics;
Genetic Testing;
Humans;
Pedigree
- From:
Chinese Journal of Medical Genetics
2018;35(6):800-803
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To carry out phenotypic and genotypic analysis for two Chinese pedigrees affected with coagulation factor XII (F XII) deficiency.
METHODS:Plasma prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen (FIB), thrombin time (TT), and blood coagulation factor VIII, IX, XI, XII activity (FVIII:C, FIX:C, FXI:C, FXII:C) were determined with one stage clotting assay on a STAGO coagulation analyzer. FXII antigen was determined with an enzyme linked immunosorbent assay (ELISA). The 14 exons and their flanking sequences of the F12 gene were subjected to PCR amplification and Sanger sequencing. The conservation and structure of mutant protein were analyzed with MegAlign software and PYMOL software.
RESULTS:The APTT of the probands was significantly prolonged, while their FXII:C and FXII:Ag were significantly reduced. Genetic analysis of the proband has revealed three novel mutations in the F12 gene, including g.5972G>A splice site mutation in intron 5, g.8810_8814delGTCTA in exon 14, and g.6259G>A (p.Pro182Leu) in exon 7. In addition, a previously known mutation IVS13-1G>A has been found.
CONCLUSION:Four mutations have been identified in the two Chinese pedigrees, among which three were novel. Above mutations probably played a role in the defect of FXII in the two pedigrees.
