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目的探讨弹性蛋白(elastin)基因突变与盆腔器官脱垂(POP)的关系。方法收集2007年9月至2009年9月在河北医科大学第二医院因POP或主因其他妇科疾病同时伴有POP住院患者血标本30例,采用聚合酶链式反应对Ⅰ、Ⅱ期POP患者9例,Ⅲ、Ⅳ期患者21例,对照组20例的elastin基因16、17、26号外显子扩增,对产物测序。结果外显子16发现846T/A和853G/A两个变异位点,846T/A在Ⅲ、Ⅳ期POP组5例,对照组1例,两组846T/A变异率为23.8%、5.0%,二者比较差异无统计学意义。其优势比(OR)值为5.94(95%CI0.63～56.20)。853G/A在Ⅲ、Ⅳ期POP组10例,对照组1例,两组853G/A变异率为47.6%,5.0%,二者比较差异有统计学意义(P<0.05)。其OR值为17.27(95%CI1.94～153.66)。Ⅰ、Ⅱ期POP组16号外显子未发现变异。17号与26号外显子未发现变异。结论 846T/A可能不是Ⅲ、Ⅳ期POP的发病因素。853G/A可以增加Ⅲ、Ⅳ期POP患病风险。853G/A可能是Ⅲ、Ⅳ期POP的一个发病因素。
Objective To investigate the relationship between elastin gene mutation and pelvic organ prolapse (POP). Methods From September 2007 to September 2009 in the Second Hospital of Hebei Medical University, POP or mainly due to other gynecological diseases accompanied by POP inpatient blood samples of 30 patients with polymerase chain reaction for Ⅰ, Ⅱ POP patients 9 21 cases of patients with stage Ⅲ, Ⅳ, and 20 cases of control group were amplified by exons 16,17,26 of elastin gene, and the products were sequenced. Results Two exon 846T / A and 853G / A were found in exon 16, 846T / A in stage Ⅲ and Ⅳ, 5 cases in POP group and 1 case in control group. The mutation rates of 846T / A in two groups were 23.8% and 5.0% , No significant difference between the two. The odds ratio (OR) was 5.94 (95% CI 0.63 ~ 56.20). 853G / A in Ⅲ, Ⅳ POP group, 10 cases, 1 case of control group, two groups 853G / A mutation rate was 47.6%, 5.0%, the difference was statistically significant (P <0.05). The OR value was 17.27 (95% CI 1.94 ~ 153.66). There was no variation in exon 16 of stage Ⅰ and Ⅱ POPs. No variation was found in exons 17 and 26. Conclusion 846T / A may not be the cause of POP in stage Ⅲ and Ⅳ. 853G / A can increase the risk of Ⅲ, Ⅳ POP. 853G / A may be Ⅲ, Ⅳ POP a risk factor.