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
The genovariation of endothelin receptor type B(EDNRB) was identified in a Chinese family with Waardenburg syndrome type I(WS1) in the present study. WS1 was diagnosed in a 19-year-old young man, his older sister and ...The genovariation of endothelin receptor type B(EDNRB) was identified in a Chinese family with Waardenburg syndrome type I(WS1) in the present study. WS1 was diagnosed in a 19-year-old young man, his older sister and aunt according to WS consortium criteria. After extracting genomic DNA from the peripheral blood samples, the coding exons and intronic regions of EDNRB were sequenced. A missense heterozygous mutation was found in the coding region of exon 2 in the EDNRB gene on chormosome 13 q22.3 of the proband. The same mutation was detected in the proband’s afflicted paternal aunt and first older sister. Subsequent polyphen analysis and three-dimensional modeling confirmed that the c.469 A>G heterozygous mutation in EDNRB was possibly pathogenic. This is the first report of EDNRB mutation as a potential disease-causing mutation in Chinese patients with WS1.展开更多
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。
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。
基金Supported by Medical Scientific Research Foundation of Guangdong Province(No.A2016271)Guangdong Natural Science Foundation(No.2016A030313208)
文摘The genovariation of endothelin receptor type B(EDNRB) was identified in a Chinese family with Waardenburg syndrome type I(WS1) in the present study. WS1 was diagnosed in a 19-year-old young man, his older sister and aunt according to WS consortium criteria. After extracting genomic DNA from the peripheral blood samples, the coding exons and intronic regions of EDNRB were sequenced. A missense heterozygous mutation was found in the coding region of exon 2 in the EDNRB gene on chormosome 13 q22.3 of the proband. The same mutation was detected in the proband’s afflicted paternal aunt and first older sister. Subsequent polyphen analysis and three-dimensional modeling confirmed that the c.469 A>G heterozygous mutation in EDNRB was possibly pathogenic. This is the first report of EDNRB mutation as a potential disease-causing mutation in Chinese patients with WS1.
