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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 ,并倾向于形成多中心型病变
OBJECTIVE: To investigate the relationship between short tandem repeat length (CAG) and susceptibility to uterine leiomyomas and the occurrence of different types of fibroids in human androgen receptor (AR) genes.Methods: Cases of uterine leiomyoma and 14 cases of female appendicitis (reference group) paraffin-embedded specimens were genomic DNA extraction, PCR amplification, denaturing polyacrylamide gel electrophoresis silver staining showed amplification product length polymorphism, all to compare The short allele was used to evaluate its length, and the number of CAG repeats (STRs) was determined according to its mobility and sequencing results.Results: The STRn values ranged from 17 to 31 and from 17 to 28 , The average number was 23.4 ± 2.5 and 21.3 ± 3.1, the former was significantly longer than the latter (P <0.05) .The number of tumor nodules was 1, 2 or 3 and> 3 The average n-value of the fibroid specimens were 2 3.1 ± 2 .2, 2 3.3 ± 2 .8 and 2 3.8 ± 2. 2, respectively. The larger value of n tended to occur with multiple nodular lesions, although statistically no (P> 0.05), mean STRn values of homologous and multicentric multiple leiomyoma were 22.2 ± 2.5 and 24 respectively .1 ± 2 .1 (P <0.05) .Conclusion: The length of CAGSTR located in the first exon of AR gene has a certain relationship with the occurrence or development of uterine leiomyoma, the longer It may be predisposed to this tumor and tend to form polycentric lesions