Related Experiment Video
Updated: Aug 29, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
[Genetic analysis of a Chinese family with inherited afibrinogenemia]
Yi Fang1, Xue-feng Wang, Hong-li Wang
1Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
Objective:
To identify the mutations of fibrinogen genes in a Chinese family with inherited afibrinogenemia.
Methods:
Samples of peripheral blood were collected from 17 members of 3 generations in a Chinese family with inherited afibrinogenemia, including the proband, female, aged 8. All the exons and exon-intron boundaries of the three fibrinogen genes were analyzed by direct sequencing.
Results:
The sequencing results of the proband revealed compound 2 heterozygous mutations in fibrinogen FGA gene, one being a splice mutation (g.1892-1899delAGTAorGTAA) in the boundary between exon3 and intron3 of the FGA gene and traced back to her patriline and the other being a 1,238 bp large deletion (g.1978-3215) in the same gene and originating from her matriline.
Conclusion:
Inherited afibrinogenemia is caused by the compound heterozygous deletion in the fibrinogen FGA gene.
More Related Videos
03:45Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
05:58Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
Published on: August 20, 2018
Related Concept Videos
Pedigree Analysis
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon has three reading...