Wang Su-mei, Wang Jian-hua, Yu Jian-chun, Wei Bin, Wang Ke-hua, Liu Jin-yun, Dong Yun-ling, Lv Xue-mei
Shandong Provincial Research Institute of Family Planning Science and Technology, Jinan, Shandong, People's Republic of China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Aug;29(4):464-7. doi: 10.3760/cma.j.issn.1003-9406.2012.04.019.
To explore the association between parental genetic polymorphism of methylenetetrahydrofolate reductase (MTHFR) 677C/T and occurrence of nonsyndromic cleft lip with or without cleft palate (NSCL/P) in offspring in Shandong Province.
MTHFR genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Parents of 89 NSCL/P patients treated at Qilu Hospital from August, 2006 to August, 2008 and those of 64 healthy children were recruited in this case-control study.
Frequencies of T and C alleles in mothers of patients and healthy children were 65.73% and 46.09%, and 34.27% and 53.91%, respectively (Chi-square=13.663, P<0.01). Offspring whose mothers had T alleles were 2.243 times more likely to develop NSCL/P (95%CI: 1.408-3.572). Frequencies of T and C alleles in fathers of patients and healthy children were 62.92% and 55.47%, and 37.08% and 44.53%, respectively (Chi-square=2.222, P>0.05). The chance for parents of the patient and control groups to bear an affected fetus carrying homozygous mutations were 43% and 29%, respectively (P>0.05).
In Shandong Province, maternal genotype for the MTHFR 677C/T polymorphism has a significant impact on the occurrence of NSCL/P in their offspring, whilst paternal genotype for this polymorphism may not be a risk factor for NSCL/P in their offspring.
探讨山东省父母亚甲基四氢叶酸还原酶（MTHFR）677C/T基因多态性与子代非综合征性唇腭裂（NSCL/P）发生的相关性。
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）法检测MTHFR基因型。本病例对照研究纳入了2006年8月至2008年8月在齐鲁医院接受治疗的89例NSCL/P患者的父母以及64例健康儿童的父母。
患者母亲和健康儿童母亲中T和C等位基因频率分别为65.73%和46.09%，以及34.27%和53.91%（χ²=13.663，P<0.01）。母亲携带T等位基因的子代患NSCL/P的可能性是母亲携带C等位基因子代的2.243倍（95%可信区间：1.408-3.572）。患者父亲和健康儿童父亲中T和C等位基因频率分别为62.92%和55.47%，以及37.08%和44.53%（χ²=2.222，P>0.05）。患者组和对照组父母生育携带纯合突变的患病胎儿的几率分别为43%和29%（P>0.05）。
在山东省，母亲的MTHFR 677C/T基因多态性对其子代NSCL/P的发生有显著影响，而父亲的该基因多态性可能不是子代NSCL/P的危险因素。
