MTHFR677C-T和1298A-C基因多态性与先天性小耳畸形相关性  

Association of MTHFR 677C-T /1298A-C polymorphism with microtia

作　　者：马书梅[1] 刘育凤[2] 刘宁[2] 张艳秋[1] 付艳云[1] 隋静[1] 浦跃朴[1] 尹立红[1] 梁戈玉[1] 

机构地区：[1]东南大学公共卫生学院环境医学工程教育部重点实验室,江苏南京210009 [2]江苏省中医院整形外科

出　　处：《中国公共卫生》2015年第5期662-665,共4页Chinese Journal of Public Health

基　　金：江苏省科技支撑计划-社会发展项目(BE201181);江苏省333工程项目(2012);江苏省六大人才高峰项目(2013-WSW-053)

摘　　要：目的探讨叶酸代谢的关键酶亚甲基四氢叶酸还原酶(MTHFR)基因677C-T和1298A-C单核苷酸多态与中国汉族人群先天性小耳畸形发病风险的关系。方法收集2012—2014年南京地区先天性小耳畸形患者183例,对照组188例来自同期健康体检者。采用PCR-内切酶消化和基因测序方法进行基因分型,采用χ2检验进行MTHFR 677C-T单核苷酸多态性与先天性小耳畸形关联分析。结果 MTHFR 677C-T突变基因型频率在病例和对照中的分布差异有统计学意义(P<0.05),进一步进行不同性别分层分析,MTHFR 677C-T突变基因型主要增加男性先天性小耳畸形的发病风险(P<0.05),MTHFR基因1298A-C多态性在病例和对照组中的分布差异无统计学意义(P>0.05),两个多态性位点存在连锁不平衡。结论 MTHFR 677C-T单核苷酸多态可能与男性先天性小耳畸形的遗传易感性有关。Objective To explore the relationship between methylenetetrahydrofolate reductase（ M THFR） genetic polymorphism of 677C-T and 1298A-C and congenital microtia in Chinese Han population. Methods Totally 183 microtia patients and 188 group-matched healthy examinees were recruited from 3 hospitals in Nanjing city from 2012 through 2014. The genotyping was conducted with polymerase chain reaction and restriction fragment length polymorphism（ PCR-RFLP） and DNA sequencing. Frequencies and allele distribution of M THFR polymorphism of 677C-T and1298A-C in the cases and controls were compared with Chi-square test. Results The differences in the in M THFR677C-T polymorphism genotype frequencies between the cases and controls were statistically significant（ all P〈0. 05）;further gender-stratified analyses showed that M THFR 677C-T polymorphism genotype mutation mainly increases the risk of microtia in the males. How ever,no significant association of M THFR 1298A-C with microtia was observed（ P〉0. 05）. Linkage disequilibrium was found between 677C-T and 1298A-C. Conclusion The mutation of 677C-T in M THFR gene may be a risk factor of microtia in males.

关 键 词：先天性小耳畸形 MTHFR 基因多态性 连锁不平衡 

分 类 号：R184.3[医药卫生—流行病学] R373.30[医药卫生—公共卫生与预防医学]