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目的探讨中国人散发性先天性巨结肠症(sporadic HD,sHD)易患基因内皮素受体-B的突变与多态性特征,比较不同种族sHD在基因改变上存在的异同。方法2002年1月至2004年12月收集武汉、太原地区92例sHD及32例患儿双亲的标本,并以60例正常儿为对照。提取外周静脉血DNA,采用聚合酶链反应-单链构象多态性方法(PCR-SSCP)对内皮素受体-B(EDNRB)基因exon-2进行分析,并通过DNA测序检测阳性标本的核苷酸改变方式,与文献报道的其他种族sHD同一基因特征做比较。结果全部标本EDNRB基因exon-2均未发现突变与多态性位点的存在。结论中国大陆sHD患者EDNRB基因的exon-2与大多数种族一样都不存在突变与多态性位点,与南非、中国香港地区sHD该基因特征存在差异。
Objective To investigate the mutation and polymorphism of endothelin receptor-B gene susceptible to sporadic HD in Chinese population and to compare the differences in gene expression between different ethnic sHD patients. Methods From January 2002 to December 2004, 92 cases of sHD and 32 parents were collected from Wuhan and Taiyuan, and 60 normal children were used as control. Peripheral venous blood DNA was extracted and exon-2 of endothelin receptor-B (EDNRB) gene was analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) The pattern of nucleotide changes was compared with that of other sHD genotypes reported in the literature. Results No exon-2 gene was found in all specimens of EDNRB gene. Conclusions Exon-2 of EDNRB gene in Mainland China patients do not have mutation and polymorphic loci as most races, which is different from those of sHD in South Africa and Hong Kong, China.