Wan Wei-dong, Wang Li-jun, Zhou Xiao-ping, Zhou De-lan, Zhang Qing-guo, Huang Jin-long, Wang Xiao-ning
Department of Plastic Surgery, Zhong Da Hospital Affiliated to Southeast University, Nanjing 210009, China.
Zhonghua Zheng Xing Wai Ke Za Zhi. 2006 Jan;22(1):8-11.
To 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.
Case-control study design was employed. MTHFR genotypes were determined by polymerase chain reaction and restriction fragment length polymorphism techniques (PCR-RFLP).
As 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).
The 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.
探讨中国人群中单纯性唇裂伴或不伴腭裂（NSCL/P）与亚甲基四氢叶酸还原酶（MTHFR）C677T和A1298C基因多态性之间的关系。
采用病例对照研究设计。通过聚合酶链反应和限制性片段长度多态性技术（PCR-RFLP）测定MTHFR基因型。
对于MTHFR C677T，通过病例-亲代对照研究使用传递不平衡检验（TDT）分析了48对有患病子女的杂合子父母（χ² = 0.02，P > 0.05）。通过病例对照研究分析了76例NSCL/P病例和60例对照的基因型频率和等位基因频率（χ² = 9.91，P < 0.05）。对于MTHFR A1298C，通过病例-亲代对照研究使用TDT分析了27对有患病子女的杂合子父母（χ² = 4.00，P < 0.05）。通过病例对照研究分析了76例NSCL/P病例和60例对照的基因型频率和等位基因频率（χ² = 4.42，P < 0.05）。
MTHFR C677T基因多态性与NSCL/P的发生有关，MTHFR A1298C基因多态性是中国人群中NSCL/P的一个危险因素。
