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雄激素受体第一外显子CAG重复序列长度多态性与子宫平滑肌瘤遗传易感性有关 被引量:6

CAG repeat polymorphism at androgen receptor gene exon 1 is associated with predisposition to uterine leiomyoma
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摘要 目的 :探讨人雄激素受体 (androgenreceptor,AR)基因中的CAG串联短重复序列 (short tandemrepeat,STR)长度与子宫平滑肌瘤易感性及不同类型肌瘤发生的关系 .方法 :对1 0 8例子宫平滑肌瘤和 1 4例女性阑尾炎 (参照组 )石蜡包埋标本进行基因组DNA提取 ,PCR扩增 ,变性聚丙烯酰胺凝胶电泳后银染显示扩增产物长度多态性 ,全部以较短的等位基因评价其长度 ,根据泳动度和测序结果判定其CAG重复次数 ,即STRn值 .结果 :肌瘤组和参照组的STRn值范围分别为1 7~ 31和 1 7~ 2 8,均数分别为 2 3.4± 2 .5和 2 1 .3± 3.1 ,前者显著长于后者 (P <0 .0 5 ) .瘤结节个数为 1个、2个或 3个和>3个的肌瘤标本n值均数分别为 2 3.1± 2 .2 ,2 3.3± 2 .8和2 3.8± 2 .2 ,n值较大者倾向于发生多结节病变 ,尽管统计学上未达到显著性差异 (P >0 .0 5 ) .同源型与多中心型的多发性平滑肌瘤标本的STRn值均数分别为 2 2 .2± 2 .5和 2 4 .1± 2 .1 ,两者差异显著 (P <0 .0 5 ) .结论 :位于AR基因第一外显子的CAGSTR长度与子宫平滑肌瘤的发生或发展有一定的关系 ,较长者可能易患这种肿瘤 。 AIM: To investigate the association between the length of CAG short tandem repeat (STR) at the androgen receptor (AR) exon 1 and the predisposition to uterine leiomyoma of different types. METHODS: Genomic DNA, extracted from 108 cases of uterine leiomyoma samples and from 14 female patients with appendicitis (as control), was amplified by PCR. The products were resolved by electrophoresis on denaturing polyacrylamide gels and visualized by silver staining. The sizes of the shorter alleles were assessed and the CAG repeat numbers ( n values) were determined by their mobility on the gel and the results of the sequencing. RESULTS: The n values of the leiomyoma and control groups ranged from 17 to 31 and 17 to 28, respectively, with the means±SD being 23.4±2.5 and 21.3± 3.1, respectively and the former was significantly higher than the latter ( P <0.05). For the myoma samples with 1, 2 or 3 and >3 tumor nodules, the means of the STR n value was 23.1±2.2, 23.3±2.8 and 23.8±2.2 respectively. The CAG STR length was associated with the number of nodules in multi nodular cases ( P <0.05) and longer alleles were positively correlated to the development of multiple uterine leiomyomas. The mean±SD n values of the samples from multinodular leiomyomas of the unicentric and multicentric types were 22.2±2.5 and 24.1±2.1, respectively, and the STR of multicentric type was longer than that of unicentric type ( P <0.05). CONCLUSION: The CAG STR polymorphism at AR exon 1 plays some role in the development or progression of multiple uterine leiomyomas. People with longer alleles may be more predisposed to neoplasm and multicentric type leiomyomas.
出处 《第四军医大学学报》 北大核心 2004年第9期836-840,共5页 Journal of the Fourth Military Medical University
基金 国家自然科学基金 (30 1 71 0 52 ) 国家回国人员研究启动基金(Hg980 0 4 ) 陕西省卫生厅科研基金 (0 2D0 2 )
关键词 雄激素受体基因多态性 串联短重复序列 子宫平滑肌瘤 疾病易感性 androgen receptor gene polymorphism short-tandem repeat uterine leiomyoma disease susceptibility
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