[Relationship between three thrombophilic gene mutations and unexplained recurrent early spontaneous abortion].
OBJECTIVE
To explore the relationship of methylenetetrahydrofolate reductase (MTHFR) gene C677T, factor V (FV) gene G1691A and prothrombin (PT) gene G20210A polymorphisms to unexplained recurrent early spontaneous abortion (URESA).


METHODS
One hundred and twelve patients with URESA and 100 women with at least 1 normal pregnancy and without any miscarriage were analyzed for MTHFR, FV and PT gene polymorphisms by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).


RESULTS
MTHFR gene T/T genotype and T allele frequencies were increased in URESA patients [38.4% (43/112) and 59.8% (134/224)] versus controls [18.0% (18/100) and 43% (43/100), P<0.01]. The patients carrying T/T genotype had a high risk of URESA (OR=2.8390, 95% CI: 1.5022 - 5.3661). However, FV and PT G20210A mutations were not found either in patients or in controls.


CONCLUSIONS
The genetic polymorphisms of MTHFR C677T are associated with URESA. It might indicate a genetic influence on pathogenesis of URESA. FV and PT gene mutations may be rare in Chinese women, and have no significance in URESA.
Xu
Li
L
Reproductive Research Center, Qingdao Research Institute for Family Planning, Qingdao 266071, China.
Liu
Xiao-man
XM
Zhang
Hong-yan
HY
Zhao
Jing
J
Qi
Qi-wei
QW
Chang
Yun-fei
YF
D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D005165:Factor V / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011516:Prothrombin / Q000235:genetics; D012307:Risk Factors; D019851:Thrombophilia / Q000235:genetics
D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)