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加德纳综合征:细胞培养的家族研究

The Gardner syndrome: a family study in cell culture.

作者信息

Danes B S, Krush A J

出版信息

J Natl Cancer Inst. 1977 Mar;58(3):771-5. doi: 10.1093/jnci/58.3.771.

Abstract

The occurrence of tetraploidy was studied in skin cultures containing both epitheloid and fibroblastic cells derived from 137 members (28 clinically affected, 50 normals at risk and 59 normals not at risk) of 6 families with the Gardner syndrome (3 classical, 3 variant). The cultures from all 28 affected members showed increased tetraploidy. Among the 50 normal members at risk for inheriting the Gardner gene, the cultures from 19 had increased tetraploidy and those from 31 did not. Cultures from 56 of the 59 family members not at risk did not show increased tetraploidy. Although the families were divided into subgroups (classical and variant) on clinical phenotypes, no such subdivision could be made on the basis of increased tetraploidy in skin cultures.

摘要

对来自6个患有加德纳综合征(3个典型病例,3个变异病例)家庭的137名成员(28名临床患者、50名有患病风险的正常人以及59名无患病风险的正常人)的皮肤培养物进行了研究,这些培养物中含有上皮样细胞和成纤维细胞。所有28名患者的培养物显示四倍体增加。在50名有继承加德纳基因风险的正常成员中,19人的培养物四倍体增加,31人的培养物则未增加。59名无患病风险的家庭成员中,56人的培养物未显示四倍体增加。尽管根据临床表型将这些家庭分为亚组(典型病例和变异病例),但无法根据皮肤培养物中四倍体增加的情况进行此类细分。

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