本文選題：尿道下裂 + 雌激素受體α��； 參考：《中華男科學(xué)雜志》2017年01期

【摘要】：目的:研究雌激素受體α基因(ESR1)rs2077647和rs6932902位點(diǎn)多態(tài)性與中國東北地區(qū)兒童尿道下裂遺傳易感性之間的關(guān)聯(lián)。方法:選取尿道下裂組兒童95例,年齡(3.2±0.6)歲;對照組兒童105例,年齡(3.1±0.7)歲。采用PCR和基因測序檢測所有研究對象ESR1基因rs2077647和rs6932902位點(diǎn)的基因型,進(jìn)行病例對照研究。結(jié)果:經(jīng)PCR和基因測序檢測,尿道下裂組和正常對照組rs2077647和rs6932902位點(diǎn)基因型及等位基因分布頻率,差異有統(tǒng)計(jì)學(xué)意義(χ~2=8.552,χ~2=16.251,P0.05);尿道下裂組rs2077647位點(diǎn)單核苷酸多態(tài)性的C等位基因比例顯著高于正常對照組(51.4%vs 35.8%),差異有統(tǒng)計(jì)學(xué)意義[OR=1.410(1.130~1.759),P0.05];尿道下裂組rs6932902位點(diǎn)單核苷酸多態(tài)性的G等位基因比例明顯低于正常對照組(49.5%vs68.1%),差異有統(tǒng)計(jì)學(xué)意義[OR=2.263(1.503~3.408),P0.01]。尿道下裂組T-A單體型比例顯著低于正常對照組(11.93% vs 16.93,P0.05),而C-G單體型顯著高于正常對照組(7.06%vs 2.42%,P0.05)。結(jié)論:ESR1 rs2077647和rs6932902 2個(gè)位點(diǎn)與兒童尿道下裂易感性相關(guān),其構(gòu)成的單體型也與尿道下裂易感性相關(guān)。
[Abstract]:Objective: to study the association between rs2077647 and rs6932902 polymorphism of estrogen receptor 偽 gene (ESR1) and the susceptibility to hypospadias in children in Northeast China. Methods: 95 children of hypospadias group (3.2 鹵0.6 years old) and 105 children of control group (3.1 鹵0.7 years old) were selected. The genotypes of rs2077647 and rs6932902 loci of ESR1 gene were detected by PCR and gene sequencing. Results: the genotypes and alleles of rs2077647 and rs6932902 loci in hypospadias and normal controls were detected by PCR and gene sequencing. The C allele of rs2077647 locus in hypospadias group was significantly higher than that in normal control group (51.4%vs 35.8%), the difference was statistically significant (P 0.05); the single nucleotide polymorphism of rs6932902 locus in hypospadias group was significantly higher than that in normal control group (P 0.05); the single nucleotide polymorphism of rs6932902 locus in hypospadias group was G et al. The proportion of the locus gene was significantly lower than that of the normal control group (49.5% vs 68.1%), and the difference was statistically significant [OR2.263 (1.503c3.408) P0.01]. The ratio of T-A haplotype in hypospadias group was significantly lower than that in normal control group (11.93% vs 16.93%), while C-G haplotype was significantly higher than that in normal control group (7.06%vs 2.42 P 0.05). Conclusion two rs2077647 and rs6932902 loci of ESR1 were associated with the susceptibility of children to hypospadias, and the haplotypes of the two loci were also related to the susceptibility to hypospadias.
【作者單位】： 牡丹江醫(yī)學(xué)院紅旗醫(yī)院泌尿外科;牡丹江醫(yī)學(xué)院紅旗醫(yī)院中西醫(yī)結(jié)合科;
【分類號】：R726.9

【參考文獻(xiàn)】

相關(guān)期刊論文 前7條

1 莊利愷;吳e，

本文編號：2086931