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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
http://www.100md.com 《第四军医大学学报》 2004年第9期
子宫平滑肌瘤,,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,0引言,1材料和方法,2结果,3讨论,【
     CAG repeat polymorphism at androgen receptor gene exon 1 is associated with predisposition to uterine leiomyoma

    LI Bin, DIAO XiaoLi, ZHANG Wei, ZHU ShaoJun, SU Qin, WANG ShuFang, FENG YingMing, LIU Jie

    1Departments of Pathology, 2Department of Oncology, Tangdu Hospital, Fourth Military Medical University, Xi’an 710038, China

    【Abstract】 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. ......

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