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中国两个地区散发性先天性巨结肠症患儿内皮素受体B基因的研究 被引量：1

Analysis of endothelin-B receptor gene in Chinese patients with sporadic congenital megacolon
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摘要 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 probe the characteristics of mutations and polymorphisms of EDNRB gene in Chinese patients with sporadic Hirschsprung＇s（ sliD） disease,and analyze the differences between different ethnics with sliD. Methods Blood from 92 cases with sliD, parents of 32 cases （ 32/92 ） and 60 normal children as control was collected. Genomic DNA was extracted from peripheral blood and single strand conformation polymorphisms analysis of polymerase chain reacion products（ PCR-SSCP） was used to analyze exon-2 of EDNRB gene in all cases. DNA sequencing was used to detect the change of nucleotide in positive cases and compare the characteristics of mutations and polymorphisms with other ethnics. Results No mutations and polymorphic sites were detected in exon-2 of EDNRB gene in all cases with sliD. Conclusion Patients with sliD in Chinese mainland share the same characteristics of no mutations and polymorphisms in exon-2 of EDNRB gene with many ethnics in earth,which is different from that in South Africa and HongKong.
作者 牛彦锋 王国斌 卢晓明 杜寒松 杨鹏 陶凯雄 汤绍涛 魏明发 周欣
机构地区 华中科技大学附属协和医院胃肠外科中心 华中科技大学附属同济医院小儿外科 武汉市儿童医院腹腔镜外科
出处 《中国实用儿科杂志》 CSCD 北大核心 2008年第1期37-40,共4页 Chinese Journal of Practical Pediatrics
基金 国家自然科学基金资助项目(30371397) 湖北省自然科学基金资助项目(2003ABA151)
关键词 巨结肠 先天性 EDNRB基因 突变与多态现象 单链构象 Hirschsprung＇s disease Gene,EDNRB Mutation,polymorphism,single strand conformation
分类号 R72 [医药卫生—儿科]
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参考文献15

  • 1Sakai T,Nirasawa Y,Itoh Y,et al.Japanese patients with sporadic Hirschsprung mutation analysis of the receptor tyrosine kinase proto-oncogene,endothelin-B receptor,endothelin-3,glial cell line-derived neurotrophic factor and neurturin genes:a comparison with similar studies[J].Eur J Pediatr,2000,156 (3):160-167.
  • 2Hosoda K,Hammer RE,Richardson JA,et al.Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice[J].Cell,1994,79 (7):1267-1276.
  • 3Tanaka H,Moroi K,Iwai J,et al.Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characteriazation[J].J Biol Chem,1998,273 (18):11378-11383.
  • 4Fuchs S,Amiel J,Claudel S,et al.Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease:evidence for selective loss of Gi coupling[J].Mol Med,2001,7(2):115-124.
  • 5Puffenberger EG,Hosoda K,Washington SS,et al.A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease[J].Cell,1994,79 (7):1257-1266.
  • 6Amiel J,Attie T,Jan D,et al.Heterozygous endothelin receptor B(EDNRB) mutations in isolated Hirschsprung disease[J].Hum Mol Genet,1996,5 (3):355-357.
  • 7段降龙,张宪生,李国威.先天性巨结肠症内皮素B受体基因分析[J].中国普通外科杂志,2004,13(4):261-263. 被引量：4
  • 8周妙妮,李继承,丁世萍.中国人散发性先天性巨结肠症内皮素受体B基因的研究[J].中华小儿外科杂志,2005,26(7):350-353. 被引量：9
  • 9魏明发,王果,朱珉,易斌,王小林,韩杰,史慧芬.先天性巨结肠症RET和EDNRB基因的突变[J].世界华人消化杂志,2004,12(3):635-638. 被引量：5
  • 10Zaahl MG,du Plessis L,Warnich L,et al.Significance of novel endothelin-B gene polymorphisms in Hirschsprung's disease:predominance of a novel variant in patients with co-existing Down's syndrome[J].Mol Cell Probes,2003,17(1):49-54.

二级参考文献20

  • 1Hosoda K, Hammer RE, Richardson JA, et al. Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice[ J]. Cell, 1994,79(7) : 1267 - 1276.
  • 2Puffenberger EG, Hosoda K, Washington SS, et al. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease[J]. Cell,1994, 79(7) : 1257 - 1266.
  • 3Syrris P, Carter ND, Patton MA. Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease[J]. Am J Med Genet, 1999, 87(1): 69 -71.
  • 4Tanaka H, Moroi K, Iwai J, et al. Novel mutations of the endothelin-B receptor gene in patients with Hirschsprung's disease and their characterization [ J ]. J Biol Chem, 1998, 273 ( 18 ) : 11378 - 11383.
  • 5Svensson PJ,Anvret M, Molander ML, et al. Phenotypic variation in a family with mutations in two Hirschsprung-related genes ( RET and endothelin-B receptor) [ J]. Hum Genet, 1998, 103 (2) : 145 - 148.
  • 6Sancandi M,Ceccherini I,Costa M. Incidence of RET mutations in patients with Hirschsprung's disease[ J]. J Pediatr Surg, 2000, 35 (1) :139 - 143.
  • 7Gath R, Goessling A, Keller K M, et al. Analysis of the RET, GDNF,EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirsechprung's disease[J]. Gut, 2001, 48(5):671 -675.
  • 8Pasini B, Rissi R, Ambrosio MR, et al. RET mutation profile and variable clinical manifestations in a family with multiple endocrine neoplasia type 2A and Hirschsprung's disease[ J]. Surgery, 2002, 131 (4) :373 - 381.
  • 9Zaahl MG, du Plessis L, Warnich L, et al. Significance of novel endothelin-B receptor gene polymorphisms in Hirsehsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome[J]. Mol Cell Probes, 2003, 17( 1 ) :49 -54.
  • 10Pingault V, Bondurand N, Lemort N, et al. A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? [J]. J Med Genet, 2001, 38(3):205 -209.

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中国实用儿科杂志
2008年 第1期

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