中国男科学杂志
中國男科學雜誌
중국남과학잡지
CHINESE JOURNAL OF ANDROLOGY
2010年
3期
12-16
,共5页
宋益挺%唐开发%孙平%张杜平%郑建忠%邢俊平
宋益挺%唐開髮%孫平%張杜平%鄭建忠%邢俊平
송익정%당개발%손평%장두평%정건충%형준평
隐睾%尿道下裂%雌激素受体α%单核苷酸多态性
隱睪%尿道下裂%雌激素受體α%單覈苷痠多態性
은고%뇨도하렬%자격소수체α%단핵감산다태성
cryptorchidism%hypospadias%estrogen receptor alpha%single nucleotide polymorphism
目的 探讨雌激素受体α(ER α)基因外显子1编码子10单核苷酸遗传多态性(SNP)与尿道下裂及隐睾症发生的相关性.方法 应用聚合酶链反应(PCR)分析的方法分别对70例尿道下裂患者、31例隐睾症患者和40例健康男性对照者基因组DNA进行ER α基因外显子1编码子10单核苷酸多态性基因枪测并分型.结果 尿道下裂组与正常对照组ER α基因编码子10基因型频率分布比较,差异具有统计学意义(P＜0.05),两组等位基因频率分布的差异也具有统计学意义(P＜0.05),变异型等位基因C频率显著升高,其OR值为1.911,95%CI为1.085-3.367.隐睾症患者与正常对照者Erα基因编码子10基因型频率分布比较,差异具有统计学意义(P＜0.05),两组等位基因频率分布比较,差异具有统计学意义(P＜0.05),变异型等位基因C频率显著升高,其OR值为2.407,95%CI为1.219～4.754.结论 ER α基因外显子1编码子10单核苷酸遗传多态性可能与尿道下裂和隐睾症的发生有关,变异型等位基因C可能是尿道下裂和隐睾症发生的危险因素.
目的 探討雌激素受體α(ER α)基因外顯子1編碼子10單覈苷痠遺傳多態性(SNP)與尿道下裂及隱睪癥髮生的相關性.方法 應用聚閤酶鏈反應(PCR)分析的方法分彆對70例尿道下裂患者、31例隱睪癥患者和40例健康男性對照者基因組DNA進行ER α基因外顯子1編碼子10單覈苷痠多態性基因鎗測併分型.結果 尿道下裂組與正常對照組ER α基因編碼子10基因型頻率分佈比較,差異具有統計學意義(P＜0.05),兩組等位基因頻率分佈的差異也具有統計學意義(P＜0.05),變異型等位基因C頻率顯著升高,其OR值為1.911,95%CI為1.085-3.367.隱睪癥患者與正常對照者Erα基因編碼子10基因型頻率分佈比較,差異具有統計學意義(P＜0.05),兩組等位基因頻率分佈比較,差異具有統計學意義(P＜0.05),變異型等位基因C頻率顯著升高,其OR值為2.407,95%CI為1.219～4.754.結論 ER α基因外顯子1編碼子10單覈苷痠遺傳多態性可能與尿道下裂和隱睪癥的髮生有關,變異型等位基因C可能是尿道下裂和隱睪癥髮生的危險因素.
목적 탐토자격소수체α(ER α)기인외현자1편마자10단핵감산유전다태성(SNP)여뇨도하렬급은고증발생적상관성.방법 응용취합매련반응(PCR)분석적방법분별대70례뇨도하렬환자、31례은고증환자화40례건강남성대조자기인조DNA진행ER α기인외현자1편마자10단핵감산다태성기인창측병분형.결과 뇨도하렬조여정상대조조ER α기인편마자10기인형빈솔분포비교,차이구유통계학의의(P＜0.05),량조등위기인빈솔분포적차이야구유통계학의의(P＜0.05),변이형등위기인C빈솔현저승고,기OR치위1.911,95%CI위1.085-3.367.은고증환자여정상대조자Erα기인편마자10기인형빈솔분포비교,차이구유통계학의의(P＜0.05),량조등위기인빈솔분포비교,차이구유통계학의의(P＜0.05),변이형등위기인C빈솔현저승고,기OR치위2.407,95%CI위1.219～4.754.결론 ER α기인외현자1편마자10단핵감산유전다태성가능여뇨도하렬화은고증적발생유관,변이형등위기인C가능시뇨도하렬화은고증발생적위험인소.
Objective To explore the relationship between the Single nucleotide polymorphism (SNP) at codon 10 of exon 1 of ERα and patients with hypospadias or crytorchidism.Methods Different SNPs genotypes of ERα of 70 patients with hypospadias, 30 patients with Cryptorchidism and 40 healthy men controls were detected by polymerase chain reaction (PCR).Results The frequency distribution of SNP at codon 10 of exon 1 of ERα in the patients with hypospadias was significantly different to that in the control group (P ≤0.05, P≤ 0.05).The frequency of variant C of codon 10 of ERα in the patients with hypospadias was significantly higher than that of the control group (OR=1.911, 95%CI from 1.085 to 3.367).The frequency distribution of genotype and allele gene of codon 10 of ERα in the patients with cryptorchidism was significantly different to that in the control group (P ≤ 0.05, P ≤ 0.05).The frequency of variant C of codon 10 of ERα in the patients with cryptorchidism was significantly higher than that in the control group (OR=2o407, 95%CI from 1.219 to 4.754).Conclusion The SNP at codon 10 of exon 1 of ERα may be associated with development of hypospadias and cryptorchidism.The variant C allele genotype of eodon 10 of ERα may be a potential risk factor for patients with hypospadias or cryptorchidism.
