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AIM:To investigate the genetic relationship betweenHirschsprung’s disease(HD)and intestinal neuronaldysplasia(IND)in Chinese population.METHODS:Peripheral blood samples were obtainedfrom 30 HD patients,20 IND patients,18 HD/INDcombined patients and 20 normal individuals as control.Genomic DNA was extracted according to standardprocedure.Exons 11,13,15,17 of RET proto-oncogenewere amplified by polymerase chain reaction(PCR).The mutations of RET proto-oncogene were analyzedby single strand conformational polymorphism(SSCP)and sequencing of the positive amplified products wasperformed.RESULTS:Eight germline sequence variants were de-tected.In HD patients,2 missense mutations in exon 11at nucleotide 15165 G→A(G667S),2 frameshift muta-tions in exon 13 at nucleotide 18974(18974insG),1missense mutation in exon 13 at nucleotide 18919 A→G(K756E)and 1 silent mutation in exon 15 at nucleo-tide 20692 G→A(Q916Q)were detected.In HD/INDcombined patients,1 missense mutation in exon 11 atnucleotide 15165 G→A and 1 silent mutation in exon 13at nucleotide 18888 T→G(L745L)were detected.Nomutation was found in IND patients and controls.CONCLUSION:Mutation of RET proto-oncogene isinvolved in the etiopathogenesis of HD.The frequency ofRET proto-oncogene mutation is quite different betweenIND and HD in Chinese population.IND is a distinctclinical entity genetically different from HD.
AIM: To investigate the genetic relationship between Hirschsprung’s disease (HD) and intestinal neuronaldysplasia (IND) in Chinese population. METHODS: Peripheral blood samples were obtained from 30 HD patients, 20 IND patients, 18 HD / IND combined patients and 20 normal individuals as control. Genomic The mutations of RET proto-oncogene were analyzed by single strand conformational polymorphism (SSCP) and sequencing of the positive amplified products wasperformed.RESULTS: Eight germline sequence variants were de- transient in HD patients, 2 missense mutations in exon 11 at nucleotide 15165 G → A (G667S), 2 frameshift muta-tions in exon 13 at nucleotide 18974 (18974insG), 1 missense mutation in exon 13 at nucleotide 18919 A → G (K756E) and 1 silent mutation in exon 15 at nucleo-tide 20692 G → A (Q916Q) were detected. In in HD / IND combined patients, 1 missense mutation in exon 11 atnucleoti de 15165 G → A and 1 silent mutation in exon 13 at nucleotide 18888 T → G (L745L) were detected. Nomutation was found in IND patients and controls. CONCLUSION: Mutation of RET proto-oncogene is in rendered in the etiopathogenesis of HD. The frequency of RET proto-oncogene mutation is quite different betweenIND and HD in Chinese population.IND is a distinctclinical entity genetically different from HD.