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- Title
Detection and Gene Mutation Analysis of Three Variations in Two Unrelated Chinese Hereditary Coagulation Factor XI Deficiency Families.
- Authors
Yang, Ting; Zhu, Jin; Chen, Xiuhua; Wang, Fengping; Zheng, Xiaoyan; Cheng, Xiaoli
- Abstract
Introduction: Three variations including a novel F11 gene variation were detected in two unrelated Chinese families with coagulation factor XI deficiency, and their possible pathogenesis was elucidated. Methods: The genomic DNA of the probands' pedigrees was extracted, and all exons and flanking sequences of F11 gene were subjected to PCR amplification and Sanger sequencing. ClustalX-2.1-win, Mutation Taster, and Swiss-Pdb Viewer software were used to analyze the conservation and impact of the variations on protein function and structure. Results: DNA sequencing showed that the proband one had p.Gly350Glu and p.Trp501stop complex heterozygous variations, while the proband two took p.Pro338Leu and p.Trp501stop compound heterozygous variations. Conservation, structural, and functional analysis of variant amino acids indicated that these three variations were harmful and probably affected the structure and function of the variable protein. Conclusions: Three variations including p.Pro338Leu, p.Gly350Glu, and p.Trp501stop responsible for the reduction of the FXI activities were herein detected. Notably, the p.Pro338Leu variation was discovered for the first time in the world. Furthermore, the p.Gly350Glu was first reported in China.
- Subjects
CHINA; BLOOD coagulation disorders; BLOOD coagulation factors; GENETIC variation; GENETIC mutation; AMINO acid analysis
- Publication
Acta Haematologica, 2022, Vol 145, Issue 6, p611
- ISSN
0001-5792
- Publication type
Article
- DOI
10.1159/000526043