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[食管癌的遗传病因学。V. 林县高危癌症家族成员培养淋巴细胞染色体上的脆性位点]

[Genetic etiology of esophageal cancer. V. Fragile sites on chromosome of cultured lymphocytes from members of high risk cancer families in Linxian County].

作者信息

Wu Y Q

机构信息

Cancer Institute, Chinese Academy of Medical Sciences, Beijing.

出版信息

Zhonghua Zhong Liu Za Zhi. 1990 May;12(3):174-8.

PMID:2249587
Abstract

The chromosome fragile sites of cultured peripheral lymphocytes from 40 members of 4 high risk cancer families and 10 members of 4 low risk cancer families in Linxian County were analysed. The results showed that 46 fragile sites in 7045 lymphocytes expression at 502 times (7.13%) were found in high risk cancer families and 8 fragile sites in 1053 lymphocytes expression at 26 times (2.47%) were found in low risk cancer families. There was a significant difference between the two groups (P less than 0.01). In 46 fragile sites carried by 40 members of high risk cancer families, 27 were common, 5 rare, 12 provisional and 2 new fragile sites. Among them, the fragile sites at 1p22-p36 and 4q21-q31 were detected in members of high risk cancer families and in patients with esophageal cancer, meanwhile, uniform breakpoint in chromosome deletion and rearrangement was also found in 4 esophageal cancer cell lines. Therefore, the author conjectures that these fragile sites at 1p13-p36 and 4q21-q31 may be fragile site-specific for high risk cancer families and patients with esophageal cancer, and they may be breakpoint-specific for esophageal cancer cells. These fragile sites may play an important role in esophageal carcinogenesis in high risk cancer families.

摘要

对林县4个高危癌症家族的40名成员和4个低危癌症家族的10名成员培养的外周血淋巴细胞的染色体脆性位点进行了分析。结果显示,在高危癌症家族中,7045个淋巴细胞中有46个脆性位点表达502次(7.13%);在低危癌症家族中,1053个淋巴细胞中有8个脆性位点表达26次(2.47%)。两组之间存在显著差异(P小于0.01)。在高危癌症家族的40名成员携带的46个脆性位点中,27个为常见位点,5个为罕见位点,12个为暂定位点,2个为新的脆性位点。其中,1p22 - p36和4q21 - q31处的脆性位点在高危癌症家族成员和食管癌患者中均被检测到,同时在4株食管癌细胞系中也发现了染色体缺失和重排中的一致断点。因此,作者推测1p13 - p36和4q21 - q31处的这些脆性位点可能是高危癌症家族和食管癌患者特有的脆性位点,并且它们可能是食管癌细胞特有的断点。这些脆性位点可能在高危癌症家族的食管癌发生过程中起重要作用。

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