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先天性巨结肠RET基因启动子多态性及其意义 被引量：1

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摘要 先天性巨结肠（Hirschsprung’s disease，HD），是小儿外科常见疾病，亚洲人种发病率最高。近年来研究发现RET基因多态性与HD发病有关，本课题拟通过研究浙江省HD的RET基因启动子（promotor）单核苷酸多态性（single nucleoride polymorphism SNPs），分析其单倍型，并通过免疫组化研究启动子多态性对RET蛋白表达的影响。
作者 秦琪 钭金法 顾伟忠 熊启星 李民驹 朱雄凯
机构地区 浙江大学医学院附属儿童医院普外科
出处 《中华小儿外科杂志》 CSCD 北大核心 2009年第11期811-814,共4页 Chinese Journal of Pediatric Surgery
基金 浙江省自然科学基金（编号：Y206003） 浙江省计生委课题（编号：H20081343）
关键词 基因启动子多态性 先天性巨结肠 RET 单核苷酸多态性 基因多态性 常见疾病 小儿外科 亚洲人种
分类号 R686 [医药卫生—骨科学]
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参考文献13

  • 1Torfs C. Epideiniological study of Hirschsprung disease in a multiracial California population. The Third International Meeting: Hirschsprung disease and related neurocristopalhies. 1998.
  • 2Sancandi M, Griseri P, Pesce B, et al. Single nucleotide polymorphic alleles in the 5' region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease. J Med Genet, 2003,40(9) :714-718.
  • 3Borrego S, Saez ME, Ruiz A, et al. Specific polymorphisms in the RET proto-oncogene are over represented in patienls with Hirschsprung disease and may represen't loci modifying phenotypic expression. J Med Genet,1999, 36(10) :771-774.
  • 4张霞,王霞,梅盛平,董大翠,张艳.先天性巨结肠与巨结肠同源病的Ret蛋白免疫组织化学研究[J].中华儿科杂志,2005,43(12):911-915. 被引量：3
  • 5Iwashita T, Kruger GM, Pardal R, et al. Hirschsprung disease is linked to defects in neural crest stem cell function. Science, 2003, 301 (5635) :972-976.
  • 6Baloh RH, Enomoto H, Johnson EM Jr. et al. The GDNF family ligands and receptors-implications for neural development. Curr Opin Neurobiol, 2000, 10(1 ) : 103-110.
  • 7Romeo G, Ronchetto P, Luo Y, et al. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature, 1994, 367(6461): 377-378.
  • 8Parisi MA, Kapur RP. Genetics of Hirschsprung disease. Curr Opin Pediatr. 2000, 12(6) :610-617.
  • 9Gabriel SB, Salomon R, Pelet A, et al. Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet, 2002,31 ( 1 ) : 89-93.
  • 10Burzynski GM, Nolte IM, Osinga J, et al. Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2. Eur J Hum Genet, 2004, 12(8):604-612.

二级参考文献34

  • 1Fitze G,Schreiber M,Kuhlisch E,et al. Association of the RET proto-oncogene codon 45 polymorphism with Hirschsprung disease. Am J Hum Genet,1999,65:1469-1473.
  • 2Borrego S,Saez ME,Ruiz A,et al. Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression. J Med Genet,1999,36: 771-774.
  • 3Bolk S,Pelet A,Hofstra R,et al. A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc Natl Acad Sci USA,2000,97:268-273.
  • 4Mulligan LM,Kwok JBJ,Healey CS,et al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature,1993,363:458-460.
  • 5Ceccherini I,Hofstra RMW,Luo Y. DNA polymorphism and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. Oncogene,1994,9:3025-3029.
  • 6Saez ME,S nchez B,Antinolo G,et al. Identification of a rare polymorphism,S836S,in the tyrosine kinase domain of RET proto-oncogene. Hum Mutat,1998,11:416-416.
  • 7Gimm O,Neuberg DS,Marsh DJ,et al. Over-representation of germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation. Oncogene,1999,18: 1369-1373.
  • 8Fitze G,Cramer J,Ziegler A,et al. Association between c135G/A genotype and RET proto-oncogene germline mutation and phenotype of Hirschsprung's disease. Lancet,2002,359:1200-1205.
  • 9Guido Fitze,Hella Appelt,Inke R. Knig,et al. Schackert Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease(HSCR). Hum Mol Genet,2003,12: 3207-3214.
  • 10M Sancandi,P Griseri,B Pesce,et al. Single nucleotide polymorphic alleles in the 5' region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease. J Med Genet,2003,40: 714-718.

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中华小儿外科杂志
2009年 第11期

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