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


CONCLUSIONS
Inherited afibrinogenemia is caused by the compound heterozygous deletion in the fibrinogen FGA gene.
Fang
Yi
Y
Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
Wang
Xue-feng
XF
Wang
Hong-li
HL
Fu
Qi-hua
QH
Wu
Wen-man
WM
Ding
Qiu-lan
QL
Dai
Jing
J
Hu
Yi-qun
YQ
Wang
Zhen-yi
ZY
D002648:Child; D005260:Female; D005340:Fibrinogen / Q000032:analysis / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D009154:Mutation
D005340:Fibrinogen