[Genetic analysis of a Chinese family with inherited afibrinogenemia].

ABSTRACT

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.