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目的 研究先天性巨结肠 (HD)的发生与内皮素B受体基因 (EDNRB)突变间的关系。方法 40例HD患儿 (37例散发性和 3例家族性 )和 40例无便秘正常健康对照者 ,分别抽取外周静脉血 3ml并经盐析法提取DNA ,然后运用聚合酶链反应 单链构象多态性分析 (PCR SSCP)银染色法检测EDNRBG中的第 4、5、6外显子 (E4、E5、E6 )的突变情况 ,并对阳性片段进行DNA测序。结果 37例散发型中的 1例短段型HD患儿E4扩增片段在SSCP分析时发现有泳动变位 ,而且该样品DNA测序核苷酸位点 831密码子 2 77位点上出现G→A的置换 ,证实为同义突变。结论 EDNRB基因突变与中国人HD的发生有密切关系 ,且主要为短段性HD
Objective To study the relationship between the occurrence of Hirschsprung ’s disease (HD) and the mutation of endothelin B receptor gene (EDNRB). Methods 40 cases of HD children (37 cases of sporadic and 3 familial) and 40 cases of normal control subjects without constipation were drawn 3ml peripheral venous blood and DNA extraction by salting out, and then use the polymerase chain reaction single-strand conformation Polymorphism analysis (PCR SSCP) was used to detect the mutation of exon 4, 5, 6 exons (E4, E5, E6) in EDNRBG. The positive DNA fragments were sequenced. Results The amplified fragment of E4 in one case of 37 sporadic cases was found to have a motile mutation at the SSCP analysis and the nucleotide sequence of G → A substitutions, confirmed as synonymous mutations. Conclusion The mutations of EDNRB gene are closely related to the occurrence of HD in Chinese, and mainly are short segment HD