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加德纳综合征:培养的皮肤成纤维细胞中四倍体增加。

The Gardner syndrome: increased tetraploidy in cultured skin fibroblast.

作者信息

Danes B S

出版信息

J Med Genet. 1976 Feb;13(1):52-6. doi: 10.1136/jmg.13.1.52.

Abstract

Tetraploidy was increased in skin fibroblast cultures grown in the laboratory at the same time under the same conditions and derived from 2 probands with the Gardner syndrome and 9 affected members of one family as compared to that occurring in cultures from 5 relatives by marriage and 10 normals. Tetraploidy was present at the first subculture (2 weeks after the initial biopsy was cultured), and for each line studied the percentage of dividing cells showing tetraploidy remained constant. The relation of the observed tetraploidy to the increased risk of such patients to develop abnormal growths and cancer has not been established. The increased tetraploidy should be of value in identifying the presence of the gene for the Gardner syndrome in high risk families.

摘要

在相同条件下于实验室同时培养的皮肤成纤维细胞中,与来自5名亲属配偶及10名正常人的培养物相比,来自2名加德纳综合征先证者及一个家族9名受累成员的培养物中四倍体有所增加。四倍体在首次传代培养时(初始活检培养2周后)就已存在,并且对于所研究的每条细胞系,显示四倍体的分裂细胞百分比保持恒定。观察到的四倍体与这类患者发生异常生长和癌症的风险增加之间的关系尚未确立。四倍体增加对于在高危家族中鉴定加德纳综合征基因的存在应具有价值。

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