雄激素受體基因第一外顯子CAG重復(fù)序列長度多態(tài)性與男性膀胱癌的

作者：劉貴秋，蘇勤，張偉，刁小莉，馮英明
【關(guān)鍵詞】 膀胱腫瘤
Length of CAG repeat at exon 1 of androgen receptor gene is associated to development of bladder carcinoma in males
　　【Abstract】 AIM: To study the possible association between the length of the polymorphic CAG short tandem repeat (STR) at androgen receptor (AR) first exon and bladder cancer development. METHODS: Genomic DNA was extracted from the paraffinembedded bladder carcinoma tissues from male patients and amplified by PCR and then the products were resolved by electrophoresis on denaturing polyacrylamide gels and visualized through silver staining. The CAG repeat numbers were assessed by the mobility of their products and direct sequencing for some representative samples. The samples with appendicitis from 94 male patients were examined in a parallel way as a reference group. RESULTS: A total number of 95 of bladder cancer samples were examined. Six of them (6.3%) showed microsatellite instability, with one excluded from the following assessment due to the difficulty in determining precisely the normal position of its amplification product. The CAG repeat numbers for the 94 patients with bladder cancer and the reference patients with appendicitis were 8-26 (20.07±3.12) and 14-30 (21.06±3.39), respectively, with statistically significant difference. CONCLUSION: CAG STR at the first exon of AR gene is associated to the development and/or progression of bladder carcinoma in male patients. A shorter CAG STR at the locus may predispose the male individuals to the development of bladder cancer.
　　【Keywords】 gene, androgen receptor; CAG repeat; gene polymorphism; bladder neoplasms
　　【摘要】 目的'： 探討人雄激素受體（AR）基因第一外顯子CAG串聯(lián)短重復(fù)序列（STR）多態(tài)性與男性膀胱癌發(fā)生之間的關(guān)系. 方法： 石蠟包埋的男性膀胱癌標(biāo)本進(jìn)行基因組DNA提取，PCR擴(kuò)增，變性聚丙烯酰胺凝膠電泳，經(jīng)銀染顯示單股DNA鏈片段長度. 根據(jù)標(biāo)本的泳動度推算CAG STR的n值；選取代表性的標(biāo)本產(chǎn)物直接測序，驗(yàn)證上述檢測的準(zhǔn)確性. 以男性闌尾炎標(biāo)本作為參照組. 結(jié)果： 95例膀胱癌標(biāo)本中有6例（6.3%）出現(xiàn)微衛(wèi)星不穩(wěn)定（MSI）現(xiàn)象，其中1例因正常組織過少而無法確定其產(chǎn)物的正常泳動位置，不做以下分析. 94例膀胱癌及相同例數(shù)參照標(biāo)本的CAG STR n值范圍分別為8~26和14~30，均數(shù)分別為20.07±3.12和21.06±3.39，兩者有統(tǒng)計學(xué)意義（P

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