Relationship between nonsyndromic cleft lip with or without cleft palate (NSCL/P) and genetic polymorphisms of MTHFR C677T and A1298C.
- Author:
Wei-dong WAN
1
;
Li-jun WANG
;
Xiao-ping ZHOU
;
De-lan ZHOU
;
Qing-guo ZHANG
;
Jin-long HUANG
;
Xiao-ning WANG
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; genetics; Case-Control Studies; Cleft Lip; genetics; Gene Frequency; Genotype; Humans; Methylenetetrahydrofolate Reductase (NADPH2); genetics; Polymorphism, Genetic
- From: Chinese Journal of Plastic Surgery 2006;22(1):8-11
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the relationship between nonsyndromic cleft lip with or without cleft palate (NSCL/P) and genetic polymorphism of MTHFR C677T and A1298C in Chinese population.
METHODSCase-control study design was employed. MTHFR genotypes were determined by polymerase chain reaction and restriction fragment length polymorphism techniques (PCR-RFLP).
RESULTSAs to MTHFR C677T, 48 heterozygous parents with an affected child were analyzed through case-parental control study using TDT (chi2 = 0. 02, P > 0.05). The genotype frequency and allele frequency of 76 NSCL/P cases and 60 controls were analyzed through case-control study (chi2 = 9.91, P < 0.05). As to MTHFR A1298C, 27 heterozygous parents with an affected child were analyzed through case-parental control study using TDT (chi2 = 4.00, P < 0.05). The genotype frequency and allele frequency of 76 NSCL/P cases and 60 controls were analyzed through case-control study (chi2 = 4.42, P < 0.05).
CONCLUSIONSThe genetic polymorphism of MTHFR C677T is associated with the development of NSCL/P, and the genetic polymorphism of MTHFR A1298C is a risk factor for NSCL/P in the Chinese population.
