[C677T and A1298C mutation of the methylenetetrahydrofolate reductase gene in unexplained recurrent spontaneous abortion].
OBJECTIVE
To investigate the association between the C677T and A1298C mutation of 5,10-methylenetetrahydrofolate reductase (MTHFR) gene and unexplained recurrent spontaneous abortion (URSA) in Chinese population.


METHODS
Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the mutation of C677T and A1298C of MTHFR in 148 cases with URSA and 82 normal controls.


RESULTS
(1) The distribution frequencies of C667T associated 3 genotypes between the URSA and control group showed statistically significant difference (P = 0.012). The frequencies of C677T genotypes were: CC (33.3%), CT (53.1%), TT (13.6%) in URSA group and CC (52.4%), CT (51.5%), TT (6.1%) in control group, respectively. And the frequency of CC genotype in URSA group was decreased significantly (P = 0.005), while the frequency of T allele in URSA was increased (P < 0.005). (2) The prevalence of the MTHFR A1298C associated 3 genotypes and A/C alleles in URSA group did not differ significantly from the control. (3) According to the linkage analysis of C677T and A1298C, 8 linkage genotypes were found, and the frequency of 677CC/1298AA in URSA was significantly lower compared with the control, the linkage of 677 (CT + TT)/1298CC was only observed in URSA group.


CONCLUSIONS
The mutations of MTHFR C677T and A1298C play a role in the mechanism of unexplained recurrent spontaneous abortion.
Wang
Xi-peng
XP
Department of Obstetrics and Gynecology, Renji Hospital, Affiliated to Shanghai Second Medical University, Shanghai 200001, China.
Lin
Qi-de
QD
Ma
Zheng-wen
ZW
Zhao
Ai-min
AM
D000026:Abortion, Habitual / Q000201:enzymology / Q000235:genetics*; D000328:Adult; D002681:China; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
D042965:Methylenetetrahydrofolate Reductase (NADPH2)