同型半胱氨酸代谢相关酶基因多态性与先天神经管缺陷关系.pdfVIP

·1868· 同型半胱氨酸代谢相关酶基因多态性与先天神经管缺陷的关系 丽 130062 周 媛王 任美英① 张为远⑦解放军208医院妇产科(吉林长春) 中国图书分类号R726．2文献标识码B 文章编号1001-4411(2008)13-1868-03 【摘要l 的多态性与先天神经管缺陷的关系。方法：采用病例对照研究的方法，以64名先天神经管缺陷的胎儿及新生患儿(观察组)与 104名无先天神经管缺陷的胎儿及新生儿(对照组)的血白细胞为样本，应用聚合酶链反应一限制性片段长度多态性技术检测 为先天神经管缺陷的保护基因；③两基因变异在先天神经管缺陷的发病中可能有协同作用。 【关键词】 先天神经管缺陷亚甲基四氢叶酸还原酶蛋氨酸合成酶还原酶基因遗传多态性 between of metabolismand Relationshipgeneticpolymorphismhomocysteineenzyme neuraltubedetects congenital ZHOU and 208th Yuan，WANGLi，RENMei—Ying，eta1．DepartmentofGynecologyDepartment，theHospitalofPLA， 130062．Jilin。仍ina Changchun detectthedistribution0f ofMTHFRandMTRRinfetusorneonatalwithcon- CAbstract]Objective：To polymorphismgene gene neuraltube normal 0fthe677thsiteC／TofMTHFBandthe detects(disease genital group)andcontrols．Methods：Polymorphism gene 66thsiteA／GofMTRRweredetected chainreaction—restrction indisease gene bypolymerase fragmentte,cthpolymorphlsm group(n= normal the677thsiteofMTHFBthe of andTr were 64)and controls(厅=104)．Results：To CC。CT gene frequencies genotypes 28．13％indisease 12．50％innormalcontrols．A differenceWus 26．56％，45．31％and group，while43．27％，44．23％and significant 8∞ninthedistribution intwo the66thsiteofMTRRthe of andGG were gene AA。AG frequencygroups；To frequencies genotypes 14．06％indisease 8．65％innormalcontrols．A differenceWaS 15．63％，70．31％