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目的应用DHPLC方法筛查先天性巨结肠GFRα-1基因突变。方法提取57例先天性巨结肠患儿的全血DNA,PCR后应用WAVE方法分析1、2、7号外显子的基因表达情况。结果WAVE技术分析在外显子1上有6例患儿出现双峰,测序后证实1、10、11、54、55号标本在-78T／C出现异常序列改变;另一个位点改变是:-106G／A,发生在54号标本上,外显子2和7上没有发现双峰。结论DHPLC是一种快速有效的基因突变筛查方法,GFRα-1的突变可能与HSCR的发生关系不大。
Objective To screen the GFRα-1 gene mutation of Hirschsprung’s disease by DHPLC. Methods Fifty - seven children with Hirschsprung ’s disease were extracted from whole blood DNA. After PCR, WAVE method was used to analyze the gene expression of exon 1, 2 and 7. Results WAVE analysis showed that there were six cases of bimodal in exon 1. After sequencing, it was confirmed that there was an abnormal sequence change at -78T / C in specimens Nos. 1, 10, 11, 54 and 55; the other changes were: 106G / A, occurred in the No. 54 specimens, exon 2 and 7 did not find double peaks. Conclusion DHPLC is a rapid and effective screening method for gene mutation. The mutation of GFRα-1 may not be related to the occurrence of HSCR.