Analysis of an hereditary coagulation factor XII deficiency in a consanguineous pedigree / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 666-669, 2011.
Article
in Chinese
| WPRIM
| ID: wpr-295558
ABSTRACT
<p><b>OBJECTIVE</b>To analyze genetic mutation and explore its molecular pathogenesis for an hereditary coagulation factor XII(F XII) deficiency in a pedigree featuring consanguineous marriage.</p><p><b>METHODS</b>Activated partial thromboplastin time (APTT), F XII procoagulant activity (F XIIC), F XII antigen (F XIIAg) 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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Blood
/
Blood Coagulation Tests
/
Factor XII
/
Base Sequence
/
Exons
/
Consanguinity
/
Polymorphism, Single Nucleotide
/
Factor XII Deficiency
/
Genetics
Type of study:
Prognostic study
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2011
Type:
Article
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