[Genetic analysis of an inherited afibrinogenemia family caused by a novel frameshift mutation in FGA].
Inherited afibrinogenemia is a rare autosomal recessive bleeding disease characterized by complete absence of fibrinogen in blood. To identify the genotype in a Chinese family with inherited afibrinogenemia, the samples of peripheral blood were collected from 6 members of 3 generations. The activated partial thromboplastin time (APTT), prothrombin time (PT), thrombin time (TT) and fibrinogen (Fg, clauss) were tested. Fg was also analyzed by using immunoturbidimetry method. DNAs of six members were extracted by using a DNA extract kit. All the exons and exon-intron boundaries of the three fibrinogen genes were amplified by using PCR and analyzed by direct sequencing. The results showed that the parents of proband were 3 degree consanguinity. A homozygous c.934_935insA in FGA was found in proband which results in the change of protein p.Ser312fsX42. The parents, grandmother, maternal grandmother and father's sister were all detected with heterozygous mutation which was same as that in proband. In conclusion homozygous c.934_935insA in FGA is a cause of inherited afibrinogenemia and a novel mutation being reported.
Xue
Feng
F
Department of Thrombosis and Hemostasis, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China.
Ge
Jing
J
Gu
Dong-Sheng
DS
DU
Wei-Ting
WT
Sui
Tao
T
Zhao
Hai-Feng
HF
Zhang
Lei
L
Yang
Ren-Chi
RC
D000347:Afibrinogenemia / Q000209:etiology / Q000235:genetics*; D002648:Child; D005091:Exons; D005260:Female; D005340:Fibrinogen / Q000235:genetics*; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree
D005340:Fibrinogen