XIE Haixiao,WANG Yingyu,ZHOU Wu, et al. Factor XII deficiency in two women with recurrent in vitro fertilization-embryo transfer failure[J]. JOURNAL OF WEZHOU MEDICAL UNIVERSITY, 2014, 44(4): 286-289.
Abstract：Objective: To identify the possible correlation of FXII deficiency with recurrent IVF-ET failure. Methods: Prothrombin time (PT), activated partial thromboplastin time (APTT), FXII procoagulant activity (FXII:C), Plasminogen activity, D-Dimer and other coagulant parameters were detected. Exons 1-14, boundary introns including the splice junctions of the FXII gene were amplified with Polymerase chain reaction (PCR). The PCR products were purified and sequenced directly. If a gene mutation was found, then reverse sequence to confirm it. Fifty heathy persons as normal controls. Results: Both APTT in the two patients were significantly prolonged. And the FXII:C values of the patients were low. Patient 1 was found heterozygous deletion mutation g.6753delACA in exon 9 and 46T/T genetype in the promoter region of FXII gene. Patient 2 was found heterozygous insert mutation g.7142 insertC in exon 10 and 46C/T genetype. The mutation of FXII g.6753delACA was a new mutation. Conclusion: FXII deficiency may contribute to impairment of fibrinolytic activity. Decreased FXII activity may be one of the important reasons of recurrent IVF-ET failure.
