Mutation analysis of a FGG gene causing hereditary abnormal fibrinogen.
10.3760/cma.j.issn.1003-9406.2018.06.008
- VernacularTitle:一个遗传性异常纤维蛋白原血症家系的FGG基因突变分析
- Author:
Liya JIANG
1
;
Qiaohong ZHANG
;
Wanping XU
;
Yongjun ZHANG
Author Information
1. Department of Clinical Laboratory, Dongyang People's Hospital, Dongyang, Zhejiang 322100, China. 93789917@qq.com.
- Publication Type:Journal Article
- MeSH:
Afibrinogenemia;
genetics;
DNA Mutational Analysis;
Female;
Fibrinogen;
genetics;
Fibrinogens, Abnormal;
genetics;
Humans;
Male;
Mutation;
Pedigree
- From:
Chinese Journal of Medical Genetics
2018;35(6):812-814
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To study the clinical phenotype and gene mutation analysis of a hereditary abnormal fibrinogenemia family and explore its molecular pathogenesis.
METHODS:The STA-R automatic hemagglutination analyzer to detect the proband and its family members (3 generations of 5 people) of prothrombin time(PT), activated partial thromboplastin time (APTT), thrombin time (TT), fibrinogen activity (Fg: C), D-dimer (D-D), fibrinogen and fibrin degradation products (FDPs), plasminogen activity (PLG: A); The plasma levels of Fg: C and fibrinogen (Fg: Ag) were measured by Clauss method and immunoturbidimetry respectively. All exons and flanking sequences of FGA, FGB and FGG genes of fibrinogen were amplified by PCR, and the PCR products were purified and sequenced for gene analysis. The model was analyzed by Swiss software.
RESULTS:The PT and APTT of the proband, her mother and sister were slightly prolonged, TT was significantly extend, Fg: C decreased significantly, Fg: Ag, PLG: A, D-D and FDPs are within the normal range; Her brother and daughter of the results are normal. Genetic analysis showed that g.7476 G>A heterozygous missense mutation in exon 8 of FGG gene resulted in mutations in arginine at position 275 of fibrinogen gamma D domain to histidine (Arg275His). Her mother and sister have the same Arg275His heterozygous mutation, brother and daughter for the normal wild type.
CONCLUSION:The heterozygous missense mutation of FGG gene Arg275His in patients with hereditary dysfibrinogenemia is associated with a decrease in plasma fibrinogen activity.
