黔北人群MTHFR基因A1298C位点多态性与非综合征性唇腭裂的相关性研究  

Correlation between polymorphism of MTHFR Gene A1298C and nonsyndromic cleft lip with or without cleft palates in north of Guizhou

作　　者：李三华 姚涛[2] 陈全利[3] 宋庆高[2] 

机构地区：[1]遵义医学院医学与生物学研究中心,贵州遵义563099 [2]遵义医学院附属口腔医院口腔颌面外科,贵州遵义563000 [3]遵义医学院附属医院针灸科,贵州遵义563000

出　　处：《现代预防医学》2018年第3期412-416,共5页Modern Preventive Medicine

基　　金：贵州省社发公关科技计划课题黔科合SY字;[2013]3070号

摘　　要：目的探讨黔北人群MTHFR基因A1298C位点的多态性及其与非综合征性唇腭裂的相关性。方法采用PCR和测序方法对45个对照组和60个NSCL/P病例组核心家系MTHFR基因A1298C位点进行扩增和测序;对样本群体进行Hardy-Weinberg遗传检测,对两组人群进行基因型频率、等位基因频率比较及OR分析;对病例组进行HHRR和TDT检验。结果对照组和病例组均符合Hardy-Weinberg平衡法则(P>0.05);对照组与病例组子代和父亲的A1298C位点基因型和等位基因频率分布差异均无统计学意义(P<0.05),而两组的母亲A1298C位点基因型及等位基因频率分布有统计学差异(P<0.05),母亲携带C突变等位基因可能有利于降低子代罹患唇腭裂的风险;病例组双亲与子代的基因型和等位基因频率差异均无统计学意义(P>0.05);MTHFR基因A1298C多态性与非综合征性唇腭裂无显著相关性(P>0.05)。结论 MTHFR基因A1298C位点多态性可能与黔北地区人群区非综合征性唇腭裂的发生没有相关性。Objective To study the relativity between polymorphism ofMTHFR gene A1298C site and the NSCL/P in the north of Guizhou. Methods PCR and next - generation sequencing technology were used to detect the SNP in 45 children without NSCL/P together with their biological parents（ control group）and 60 children with NSCL/P together with their biological parents （case group）. Two groups were performed Hardy - Weinberg test. Genotype frequencies, allele frequencies, and OR analyses were performed on two groups. HHRR and TDT tests were performed on the case group to analyze the correlation between the polymorphism of A1298C site and NSCL/P and the status of transmission disequilibrium. Results The two groups were in line with the principles of Hardy - Weinberg equilibrium （ P 〉 0.05 ）. Frequencies of genotype and allele in the A1298C site of children and fathers in two groups were not statistically different, respectively（ P 〉 0.05 ）. However, frequencies of genotype and allele were statistically different in mothers of two groups （ P 〈 0.05 ）. Mother carrying C mutant allele might contribute to reduced risk of NSCL/P in offspring. The frequencies of genotype and allele of two parents were not statistically different from those of children in case group（ P 〉 0.05 ）. Results of HHRR test showed no significant correlation between the polymorphism of MTHFR gene A1298C site and NSCL/P （ P 〉 0.05 ）. Results of TDT test showed that no linkage disequilibrium between polymorphism MTHFR gene of A1298C and NSCL/P （ P 〉 0.05 ）. Conclusion The polymorphism of MTHFR gene A1298C site has no correlation between the NSCL/P in people in the north of Guizhou.

关 键 词：非综合症性唇腭裂 MTHFR 基因多态性 单体型相对风险分析 传递不平衡检验 

分 类 号：R181.33[医药卫生—流行病学]