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家族性结肠息肉病基因定位于5号染色体长臂。

The gene for familial polyposis coli maps to the long arm of chromosome 5.

作者信息

Leppert M, Dobbs M, Scambler P, O'Connell P, Nakamura Y, Stauffer D, Woodward S, Burt R, Hughes J, Gardner E

机构信息

Howard Hughes Medical Institute, Department of Human Genetics, University of Utah Medical Center, Salt Lake City 84132.

出版信息

Science. 1987 Dec 4;238(4832):1411-3. doi: 10.1126/science.3479843.

DOI:10.1126/science.3479843
PMID:3479843
Abstract

The inherited genetic defect in adenomatous polyposis has been localized to a small region on the long arm of chromosome 5. Sixteen DNA marker loci were used to construct a linkage map of the chromosome. When five kindreds segregating a gene for adenomatous polyposis coli were characterized with a number of the markers, significant linkage was found between one marker and the disease gene. Linkage analysis determined the location of the defective gene within a primary genetic map of chromosome 5.

摘要

腺瘤性息肉病的遗传性基因缺陷已定位到5号染色体长臂上的一个小区域。使用16个DNA标记位点构建了该染色体的连锁图谱。当用一些标记对分离腺瘤性息肉病基因的五个家系进行特征分析时,发现一个标记与疾病基因之间存在显著连锁。连锁分析确定了缺陷基因在5号染色体初级遗传图谱中的位置。

相似文献

1
The gene for familial polyposis coli maps to the long arm of chromosome 5.家族性结肠息肉病基因定位于5号染色体长臂。
Science. 1987 Dec 4;238(4832):1411-3. doi: 10.1126/science.3479843.
2
Localization of the genetic defect in familial adenomatous polyposis within a small region of chromosome 5.家族性腺瘤性息肉病基因缺陷在5号染色体一小区域内的定位。
Am J Hum Genet. 1988 Nov;43(5):638-44.
3
Genetic characterization of the APC locus involved in familial adenomatous polyposis.家族性腺瘤性息肉病相关APC基因座的遗传学特征分析。
Gastroenterology. 1991 Jul;101(1):154-60. doi: 10.1016/0016-5085(91)90472-w.
4
High-resolution karyotypes of eighteen Norwegian polyposis patients.
Cancer Genet Cytogenet. 1990 Jul 1;47(1):69-72. doi: 10.1016/0165-4608(90)90264-b.
5
Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5.一名患有5号染色体长臂间质性缺失的男孩患加德纳综合征。
Am J Med Genet. 1991 Dec 15;41(4):460-3. doi: 10.1002/ajmg.1320410416.
6
Genetic analysis of an inherited predisposition to colon cancer in a family with a variable number of adenomatous polyps.对一个患有数量不等的腺瘤性息肉的家族中结肠癌遗传易感性的基因分析。
N Engl J Med. 1990 Mar 29;322(13):904-8. doi: 10.1056/NEJM199003293221306.
7
A tale of four syndromes: familial adenomatous polyposis, Gardner syndrome, attenuated APC and Turcot syndrome.四种综合征的故事:家族性腺瘤性息肉病、加德纳综合征、弱化型腺瘤性息肉病基因(APC)综合征和Turcot综合征。
QJM. 1995 Dec;88(12):853-63.
8
Linkage studies in Italian families with familial adenomatous polyposis.对意大利家族性腺瘤性息肉病家族的连锁研究。
Hum Genet. 1993 Jan;90(5):545-50. doi: 10.1007/BF00217456.
9
Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2.卡尼综合征,一种家族性多发性肿瘤和雀斑综合征。对11个家系的分析及与2号染色体短臂的连锁关系。
J Clin Invest. 1996 Feb 1;97(3):699-705. doi: 10.1172/JCI118467.
10
Evaluation of polymorphic genetic markers for linkage to the familial adenomatous polyposis locus on chromosome 5.评估多态性遗传标记与5号染色体上家族性腺瘤性息肉病基因座的连锁关系。
Dis Colon Rectum. 1990 Sep;33(9):740-4. doi: 10.1007/BF02052318.

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