|
|
|
| The gene analysis of a Chinese pedigree with congenital blood coagulation factor XI deficiency |
1.Department of Laboratory,Wenzhou People’s Hospital, Wenzhou, 325000; 2.Department of Laboratory,the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, 325015
|
|
| Cite this article: |
|
DAI Liya1,ZHANG Deting1,XIE Haixiao2, et al. The gene analysis of a Chinese pedigree with congenital blood coagulation factor XI deficiency [J]. JOURNAL OF WEZHOU MEDICAL UNIVERSITY, 2015, 45(5): 376-.
|
|
|
Abstract Objective: To analyze genetic mutation and explore its molecular pathogenesis for a Chinese pedigree with congenital blood coagulation factor XI deficiency. Methods: Activated partial thromboplastin time (APTT), Prothrombin time (PT), FXI activity (FXI:C), FXI antigen (FXI:Ag) and other coagulant parameters were assayed. Exons 1-15, exon-intron boundaries and 5’, 3’ untranslated sequences of FXI gene of the proband and other family members were analyzed by direct sequencing. The detected mutations were confirmed by sequencing the complementary strand. Results: The proband had prolonged APTT (50.0 s). The APTT results of her brother and son were prolonged too, which were 53.7 second and 51.8 second respectively. Other members’ APTT were in normal range. The activity and antigen of proband’s FXI was 22.5% and 29.0%, while her brother was 22.3% and 18.0%, her son was 35.5% and 29.0%, her father was 42.0% and 40% separately, which were called cross-reactivity material negative. The mother of proband had normal results above-mentioned. After the amplification and sequencing of 15 extrons in FXI, an exon 8 C16642→T mutation in proband as well as in her father, brother and son was found, which led to an amino acid change of Gln→Term at residue 263. Conclusion: The mutation of C16642→T on exon 8 is the main reason for the congenital FXI deficiency in this Chinese pedigree.
|
|
Received: 21 July 2014
|
| |
|
|
|
|
|
|
