Infrequent somatic deletion of the 5′ region of the COL1A2 gene in oesophageal squamous cell cancer patients
Infrequent somatic deletion of the 5′ region of the COL1A2 gene in oesophageal squamous cell cancer patients
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DOI：
10.1515/cclm.2002.165
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发表时间：
2002-01-01
影响因子：
6.8
通讯作者：
Parker, MI
中科院分区：
文献类型：
--
作者：
Dietzsch, E;Parker, MI
食管鳞状细胞癌是南非非洲男性癌症死亡的主要原因。从33名患有食管鳞状细胞癌的非洲患者的食管正常和肿瘤活检组织中分离DNA，并使用聚合酶链反应（PCR）分析两种二核苷酸重复多态性，第一内含子中的GT重复序列和人[α]2（I）前胶原基因（COL 1A 2）启动子中的CA重复序列。将来自每个个体的正常和肿瘤DNA进行比较，以确定肿瘤DNA中存在的变化，但正常DNA中不存在。22例为启动子多态性提供信息（杂合子），24例为内含子多态性提供信息。2/22例（9.1%）启动子区和3/24例（12.5%）内含子区发生杂合性丢失（洛）。这些变化共涉及3例患者：2例患者显示丢失的等位基因，包括CA重复和GT重复位点;第3例患者显示内含子多态性洛，但启动子多态性无信息（纯合子）。前胶原基因的缺失可能是一个尚未认识到的，但在多步骤的致癌过程中罕见的事件。
Oesophageal squamous cell cancer is the leading cause of cancer death amongst African males in South Africa. DNA was isolated from normal and tumour biopsies of the oesophagi of 33 African patients with squamous cell carcinoma of the oesophagus and was analysed with two dinucleotide repeat polymorphisms, a GT repeat sequence in the first intron, and a CA repeat in the promoter of the human [alpha]2(I) procollagen gene (COL1A2), using the polymerase chain reaction (PCR). Normal and tumour DNAs from each individual were compared to identify changes present in the tumour DNA, but absent in normal DNA. Twenty two cases were informative (heterozygous) for the promoter polymorphism and 24 cases were informative for the intronic polymorphism. Loss of heterozygosity (LOH) was seen in 2/22 (9.1%) for the promoter and 3/24 (12.5%) for the intronic polymorphism. These changes involved a total of three patients: two patients displayed the lost allele incorporating both the CA repeat and GT repeat loci; the third patient revealed LOH at the intronic polymorphism, but was noninformative (homozygous) for the promoter polymorphism. Deletions within the procollagen genes may represent an as yet unrecognised but rare event in the multistep process of carcinogenesis.