Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2011
[Analysis of an hereditary coagulation factor XII deficiency in a consanguineous pedigree].
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Zhang Yang, Xie Hai-xiao, Wang Ming-shan, Jin Yan-hui, Xie Yao-sheng, Zheng Fang-xiu
Аннотация
OBJECTIVE: To analyze genetic mutation and explore its molecular pathogenesis for an hereditary coagulation factor XII(F XII) deficiency in a pedigree featuring consanguineous marriage.
METHODS: Activated partial thromboplastin time (APTT), F XII procoagulant activity (F XII:C), F XII antigen (F XII:Ag) and other coagulant parameters were assayed. For the proband and his family members, exons 1-4, introns including the splice junctions of the F XII gene were amplified with polymerase chain reaction (PCR). The PCR product was purified and sequenced. The mutations were confirmed by sequencing the complimentary strand.
RESULTS: The proband has featured prolonged APTT at 157.5 s (reference range, 27.0-41.0 s). The APTT of his son has increased slightly at 48.3 s. The remaining members of the family were in normal range. F XII activity and F XII antigen of the proband were significantly decreased (<1%). The F XII activity of his wife, daughter, son and mother was also dropped to about 51%, 21%, 21% and 50%, respectively, and so was the F XII antigen (42%, 32%, 37% and 48%, respectively). Homozygous missense mutation of G→A transition at position 8699 in exon 14 resulting in Gly542Ser was identified in the proband. His mother, son and daughter were heterozygous for Gly542Ser. In the promoter regions of F XII gene, the genotype of the proband and the other members was 46T/T.
CONCLUSION: Homozygous missense mutation Gly542Ser was found in a pedigree of hereditary F XII deficiency. The homozygous missense mutation might have resulted from his parents by consanguineous marriage. Gly542Ser and 46T/T have contributed to the pathogenesis of the hereditary factor XII deficiency pedigree.
METHODS: Activated partial thromboplastin time (APTT), F XII procoagulant activity (F XII:C), F XII antigen (F XII:Ag) and other coagulant parameters were assayed. For the proband and his family members, exons 1-4, introns including the splice junctions of the F XII gene were amplified with polymerase chain reaction (PCR). The PCR product was purified and sequenced. The mutations were confirmed by sequencing the complimentary strand.
RESULTS: The proband has featured prolonged APTT at 157.5 s (reference range, 27.0-41.0 s). The APTT of his son has increased slightly at 48.3 s. The remaining members of the family were in normal range. F XII activity and F XII antigen of the proband were significantly decreased (<1%). The F XII activity of his wife, daughter, son and mother was also dropped to about 51%, 21%, 21% and 50%, respectively, and so was the F XII antigen (42%, 32%, 37% and 48%, respectively). Homozygous missense mutation of G→A transition at position 8699 in exon 14 resulting in Gly542Ser was identified in the proband. His mother, son and daughter were heterozygous for Gly542Ser. In the promoter regions of F XII gene, the genotype of the proband and the other members was 46T/T.
CONCLUSION: Homozygous missense mutation Gly542Ser was found in a pedigree of hereditary F XII deficiency. The homozygous missense mutation might have resulted from his parents by consanguineous marriage. Gly542Ser and 46T/T have contributed to the pathogenesis of the hereditary factor XII deficiency pedigree.