目的:探讨子宫内膜癌患者FHIT、SLIT2、EDNRB基因3个微卫星位点D3S1287、D4S1593、D13S160杂合性丢失(loss of heterozygosity,LOH),以确定侯选的抑癌基因。方法:应用PCR-变性PAGE-银染方法分别对35例子宫内膜癌患者癌组织及相对应的正...目的:探讨子宫内膜癌患者FHIT、SLIT2、EDNRB基因3个微卫星位点D3S1287、D4S1593、D13S160杂合性丢失(loss of heterozygosity,LOH),以确定侯选的抑癌基因。方法:应用PCR-变性PAGE-银染方法分别对35例子宫内膜癌患者癌组织及相对应的正常子宫内膜组织在FHIT、SLIT2、EDNRB基因3个微卫星位点D3S1287、D4S1593、D13S160行LOH检测。结果:LOH总检出率为54.3%,D3S1287、D4S1593、D13S160位点分别为34.5%、20.5%、19.3%。FHIT、SLIT2、EDNRB基因的3个微卫星位点发生LOH率与子宫内膜癌手术-病理分期无明显相关性。结论:子宫内膜癌患者肿瘤组织在FHIT、SLIT2、及EDNRB基因的微卫星位点D3S1287、D4S1593、D13S160均有LOH。FHITS、LIT2及EDNRB基因为抑癌基因,其失活可能与子宫内膜癌的发生有关。展开更多
AIM: To investigate the mutation of EDNRB gene and EDN3 gene in sporadic Hirschsprung's disease (HD) in Chinese population.METHODS: Genomic DNA was extracted from bowel tissues of 34 unrelated HD patients which we...AIM: To investigate the mutation of EDNRB gene and EDN3 gene in sporadic Hirschsprung's disease (HD) in Chinese population.METHODS: Genomic DNA was extracted from bowel tissues of 34 unrelated HD patients which were removed by surgery.Exon 3, 4, 6 of EDNRB gene and Exon 1, 2 of EDN-3 gene were amplified by polymerase chain reaction (PCR) and analyzed by single strand conformation polymorphism (SSCP).RESULTS: EDNRB mutations were detected in 2 of the 13short-segment HD. One mutant was in the exon 3, the other was in the exon 6. EDN-3 mutation was detected in one of the 13 short-segment HD and in the exon 2. Both EDNRB and EDN-3 mutations were detected in one short-segment HD. No mutations were detected in the ordinary or longsegment HD.CONCLUSION: The mutations of EDNRB gene and EDN-3 gene are found in the short-segment HD of sporadic Hirschsprung's disease in Chinese population, which suggests that the EDNRB gene and EDN-3 gene play important roles in the pathogenesis of HD.展开更多
文摘Waardenburg综合征(Waardenburg syndrome,WS)又被称为听觉-色素综合征,以色素分布异常和耳聋为主要特征,在先天性耳聋病例中占比约2%-5%。随着国内外WS研究数据的不断积累,目前一系列相关致病基因已被陆续报道。内皮素受体B型基因(endothelin receptor type B,EDNRB),对神经嵴发育起到关键调控作用,该基因突变与II型和VI型WS的发生密切相关。本文通过归纳总结国内外多篇关于EDNRB基因突变诱发WS的相关报道,对EDNRB基因在WS发病中的作用予以全面综述,为后续基础研究及临床诊治提供必要理论指导。
文摘目的:探讨子宫内膜癌患者FHIT、SLIT2、EDNRB基因3个微卫星位点D3S1287、D4S1593、D13S160杂合性丢失(loss of heterozygosity,LOH),以确定侯选的抑癌基因。方法:应用PCR-变性PAGE-银染方法分别对35例子宫内膜癌患者癌组织及相对应的正常子宫内膜组织在FHIT、SLIT2、EDNRB基因3个微卫星位点D3S1287、D4S1593、D13S160行LOH检测。结果:LOH总检出率为54.3%,D3S1287、D4S1593、D13S160位点分别为34.5%、20.5%、19.3%。FHIT、SLIT2、EDNRB基因的3个微卫星位点发生LOH率与子宫内膜癌手术-病理分期无明显相关性。结论:子宫内膜癌患者肿瘤组织在FHIT、SLIT2、及EDNRB基因的微卫星位点D3S1287、D4S1593、D13S160均有LOH。FHITS、LIT2及EDNRB基因为抑癌基因,其失活可能与子宫内膜癌的发生有关。
基金the Natural Science Foundation of Shaanxi Province,No.2000SM58
文摘AIM: To investigate the mutation of EDNRB gene and EDN3 gene in sporadic Hirschsprung's disease (HD) in Chinese population.METHODS: Genomic DNA was extracted from bowel tissues of 34 unrelated HD patients which were removed by surgery.Exon 3, 4, 6 of EDNRB gene and Exon 1, 2 of EDN-3 gene were amplified by polymerase chain reaction (PCR) and analyzed by single strand conformation polymorphism (SSCP).RESULTS: EDNRB mutations were detected in 2 of the 13short-segment HD. One mutant was in the exon 3, the other was in the exon 6. EDN-3 mutation was detected in one of the 13 short-segment HD and in the exon 2. Both EDNRB and EDN-3 mutations were detected in one short-segment HD. No mutations were detected in the ordinary or longsegment HD.CONCLUSION: The mutations of EDNRB gene and EDN-3 gene are found in the short-segment HD of sporadic Hirschsprung's disease in Chinese population, which suggests that the EDNRB gene and EDN-3 gene play important roles in the pathogenesis of HD.
