青少年息肉病中的SMAD基因

SMAD genes in juvenile polyposis.

作者信息

Roth S, Sistonen P, Salovaara R, Hemminki A, Loukola A, Johansson M, Avizienyte E, Cleary K A, Lynch P, Amos C I, Kristo P, Mecklin J P, Kellokumpu I, Järvinen H, Aaltonen L A

机构信息

Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.

出版信息

Genes Chromosomes Cancer. 1999 Sep;26(1):54-61. doi: 10.1002/(sici)1098-2264(199909)26:1<54::aid-gcc8>3.0.co;2-d.

DOI:10.1002/(sici)1098-2264(199909)26:1<54::aid-gcc8>3.0.co;2-d

PMID:10441006

Abstract

Juvenile polyposis (JP) is a dominantly inherited condition characterized by the development of multiple hamartomatous tumors, juvenile polyps, in the gastrointestinal tract. The aim of this study was to clarify the role of SMAD4 in JP. DNA from four unrelated JP kindreds and three sporadic JP cases was available for mutation screening. Two truncating defects (one in a familial and one in a sporadic case) and one missense change (in a familial case) that was absent in 55 control samples were detected. To study the possibility that germline mutations in other genes encoding different components of the TGF-beta signaling pathway may be present in these JP patients, mutation analyses of the SMAD2, SMAD3, and SMAD7 genes were also performed. No mutations of these genes were detected in any of the patients. Our results confirm that SMAD4 is a gene predisposing to JP and suggest the existence of further JP loci other than the SMAD2, SMAD3, or SMAD7 genes. Genes Chromosomes Cancer 26:54-61, 1999.

摘要

青少年息肉病（JP）是一种常染色体显性遗传病，其特征是胃肠道出现多个错构瘤性肿瘤，即青少年息肉。本研究的目的是阐明SMAD4在青少年息肉病中的作用。从四个无血缘关系的青少年息肉病家族和三个散发的青少年息肉病病例中获取DNA用于突变筛查。检测到两个截短缺陷（一个在家族性病例中，一个在散发性病例中）和一个错义改变（在家族性病例中），55例对照样本中未出现这些改变。为了研究这些青少年息肉病患者中是否可能存在编码转化生长因子-β信号通路不同成分的其他基因的种系突变，还对SMAD2、SMAD3和SMAD7基因进行了突变分析。在任何患者中均未检测到这些基因的突变。我们的结果证实SMAD4是导致青少年息肉病的一个基因，并提示除SMAD2、SMAD3或SMAD7基因外，还存在其他青少年息肉病基因座。《基因、染色体与癌症》26:54 - 61，1999年。