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目的建立中国汉族人群RET基因位于exon2(密码子45)、exon13(密码子769)、exon11(密码子691)和exon15(密码子904)的基因多态性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-RFLP在中国湖北地区汉族人群中检测正常对照组(122例)及散发性先天性巨结肠组(HD组,94例)G45A(GCG→GCA)、T769G(CTT→CTG)、G691A(GGT→AGT)和C904G(TCC→TCG)的单核苷酸多态性(singlenucleotidepolymorphisms,SNPs)。结果G45A、T769G和G691A在对照组中均存在多态性,但未发现C904G存在基因多态性,均为CC型。G45A在对照组中的基因型频率分别为AA0.17、AG0.72和GG0.11,突变型A和野生型G等位基因的频率为0.53和0.47;而G45A在HD组则分别为AA0.61、AG0.35和GG0.04,突变型A和野生型G等位基因的频率为0.78和0.22。T769G在对照组中基因型频率分布分别为GG0.30、GT0.52和TT0.18,G和T等位基因的频率为0.56和0.44;而T769G在HD组则分别为GG0.49、GT0.36和TT0.15,突变型G和野生型T等位基因的频率为0.67和0.33。两组间的两个位点的基因型和等位基因的分布频率差异均有统计学意义(χ2=28.64,P<0.001;χ2=5.27,P=0.022)。G691A在对照组中基因型频率分别为AA0.05、AG0.16和GG0.79,突变型A和野生型G等位基因的频率为0.13和0.87;而在HD组则分别为AA0.02、AG0.14和GG0.84,突变型A和野生型G等位基因的频率为0.09和0.91,两组间比较差异无统计学意义(χ2=1.232,P=0.267)。结论在中国湖北地区汉族人群中,RET密码子904可能不存在基因多态性,未发现G691A与先天性巨结肠存在相关性,而G45A和T769G的基因多态性可能与中国湖北地区汉族人群先天性巨结肠相关。
Objective To establish the distribution of genotype and allele frequencies of the polymorphisms of RET gene in exon2 (codon 45), exon 13 (codon 769), exon 11 (codon 691) and exon 15 (codon 904) of Chinese Han population Background, to explore the relationship between genetic polymorphism and Hirschsprung’s disease. Methods The normal control group (122 cases) and the sporadic Hirschsprung group (HD group, 94 cases) were detected by PCR-RFLP in Han population of Hubei province in China. (GGT → AGT) and C904G (TCC → TCG) single nucleotide polymorphisms (SNPs). Results There were polymorphisms in G45A, T769G and G691A in the control group, but there was no polymorphism in C904G, all of which were in CC genotype. The genotype frequencies of G45A in the control group were AA0.17, AG0.72 and GG0.11, and the frequencies of mutant A and wild-type G allele were 0.53 and 0.47, respectively. The frequencies of G45A in HD group were AA0. 61, AG0.35 and GG0.04, the frequencies of mutant A and wild-type G alleles were 0.78 and 0.22. The frequencies of genotypes of T769G in the control group were GG0.30, GT0.52 and TT0.18 respectively, and the frequencies of G and T alleles were 0.56 and 0.44, while those of T769G were GG0.49 and GT0 respectively in HD group. 36 and TT 0.15, the frequencies of mutant G and wild-type T alleles were 0.67 and 0.33, respectively. There were significant differences in genotype distribution and allele frequencies between the two groups (χ2 = 28.64, P <0.001; χ2 = 5.27, P = 0.022). The genotype frequencies of G691A in the control group were AA0.05, AG0.16 and GG0.79, the frequencies of mutant A and wild-type G alleles were 0.13 and 0.87, respectively, while those in HD group were AA0.02, The frequencies of AG0.14 and GG0.84, mutant A and wild type G alleles were 0.09 and 0.91, respectively. There was no significant difference between the two groups (χ2 = 1.232, P = 0.267). CONCLUSIONS: RET codon 904 may not exist polymorphism in Han population of Hubei province in China. There is no correlation between G691A and Hirschsprung’s disease, while the polymorphisms of G45A and T769G may be congenital to Han population in Hubei Province of China Hirschsprung-related.