摘要
目的建立中国汉族人群RET基因密码子45和769的基因型和等位基因频率的分布背景,探讨其基因多态性与先天性巨结肠的关系。方法应用PCR-RELP在中国人群中检测对照组(n=122)及散发性先天性巨结肠组(n=94)G45A和T769G的单核苷酸多态性(single nucleotide pol-ymorphisms,SNPs)。结果45位密码子和769位密码子在中国人群中均存在多态性。G45A在正常对照和疾病组中基因型频率分别为:对照组,AA0.17、AG0.72、GG0.11,突变型A和野生型G等位基因的频率为0.53、0.47;HD组,AA0.61、AG0.35、GG0.04,突变型A和野生型G等位基因的频率为0.78、0.22;T769G在正常对照和疾病组中基因型频率分布分别为:对照组,GG0.30、GT0.52、TT0.18,突变型G和野生型T等位基因的频率为0.56、0.44;HD组,GG0.49、GT0.36、TT0.15,突变型G和野生型T等位基因的频率为0.67、0.33。两个位点的基因型和等位基因的分布频率在两组间均有显著性差异(χ2=28.64,P<0.001;2χ=5.27,P=0.022)。结论RET密码子45和769的基因多态性可能与中国汉族人群先天性巨结肠相关。
Objective To establish the genetic background of exon45 and exon769 polymorphisms of RET proto-oncogene in Chinese population and study the possible involvement of RET proto-oncogene in the etiology of Hirschsprung disease （HD）. Methods The genotype and allele frequencies of RET proto-oncogene polymorphisms were identified by polymerase chain reaction-restriction fragment length polymorphisms （PCR-RFLPS） in 94 HD patients and 122 control subjects. Results The genotype and allele frequencies of exon2 （G45A） were AA 0. 17, ACT 0. 72 ,GG0. 11, A 0. 53, G 0. 47 respectively in control, and in HD were AA 0. 61,AG 0. 35,GG 0. 04, A 0. 78,G 0. 22 respectively. The genotype and allele frequencies of exonl3 （T769G） were C,G 0. 30,GT 0. 52,TT 0. 18, G 0. 56,T 0. 44 respectively in control, and in HD were C,G 0. 49,GT 0. 36,TT 0. 15, G 0. 67,T 0. 33. There were significant differences between HD and control about two polymorphisms. Conclusions These data provided evidence exon45 and exon769 polymorphisms of RET proto-oncogene as a contributing factor to development of HD.
出处
《中华小儿外科杂志》
CSCD
北大核心
2005年第12期627-630,共4页
Chinese Journal of Pediatric Surgery
基金
国家自然科学基金资助项目(30371397)
