体外受精-胚胎移植患者卵巢颗粒细胞卵泡刺激素受体启动子突变与卵巢反应不良的关系  

The correlation between genotypes at the position - 29G/A in the promoter of follicle stimulating hormone receptor and ovarian response

作　　者：夏良斌[1] 欧阳静萍[2] 杨菁[1] 胡静[1] 李爱斌[1] 吴庚香[1] 敖良飞[1] 

机构地区：[1]武汉大学人民医院生殖中心,430060 [2]武汉大学医学部病理生理教研室

出　　处：《中华检验医学杂志》2009年第6期664-668,共5页Chinese Journal of Laboratory Medicine

基　　金：湖北省自然科学基金资助项目（2007ABA232）

摘　　要：目的 探讨卵巢颗粒细胞卵泡刺激素受体（FSHR）启动子突变与卵巢反应不良发生的分子机制。方法对体外受精-胚胎移植（IVF—ET）周期中70例卵巢反应不良患者与88例卵巢正常反应患者FSHR 5’端起始位点的前263bpDNA片段进行测序，研究卵巢颗粒细胞FSHR启动子突变与卵巢反应性的关系。结果158例IVF患者中有63例发生-29位点G—A突变，发生率为40．0％；其中，卵巢反应不良组中该位点突变发生率[60．0％（42／70）]明显高于卵巢正常反应组[23．9％（21／88）,X^2=21．450，P〈0．01]；而不同基因型组的基础卵泡刺激素值（bFSH）差异无统计学意义[G／G基因型组为（7．2±2．3）U／L，G／A和A／A基因型组为（7．1±2．0）U／L，t=0．457，P〉0．05]；G／G基因型组的窦状卵泡数目[（14．2±1．3）个]明显高于G／A和A／A基因型组[（4．5±0．8）个，t=35．81，P〈0．05]；G／G基因型组采卵数[（14．0±1．2）个]明显高于G／A＆A／A基因型组[（4．5±1．1）个，t=40．35，P〈0．05]；G／G基因型组雌二醇峰值[（2865±557）pmol／L]明显高于G／A＆A／A基因型[（880±211）pmol／L，t=25．80，P〈0．05]；G／G基因型组成熟卵子数[（13．6±1．2）个]明显高于G／A＆A／A基因型组[（4．3±0．9）个，t=40．22，P〈0．05]。结论FSHR启动子-29位点对FSHR启动子活眭有显著影响，G-A突变可减弱启动子活性，使卵巢颗粒细胞对FSH反应不良。Objective To sequence follicle stimulating hormone receptro （FSHR） promoter of the ovarian granulocyte and initially research the molecular mechanism of the poor ovarian response. Methods To study the relationship between FSHR promoter mutation of ovarian granulocyte and ovarian respone. The 263 bp DNA fragments before FSHR 5＇initiation site in 70 cases of patients with poor ovarian respone and 88 cases of patients with ovarian normal respone who were in the cycle of IVF-ET were sequenced. Resutlts Them were 63 cases which occurred 29th site G→A point mutation in 158 women and the mutation rate was 40. 0%. Mutation rate [ 60. 0% （ 42/70 ） ] of 29th site G →A in group of poor ovarian respone was significantly higher（x^2 = 21. 450,P 〈 0. 01 ） than normal response group [ 23.9% （21/88） ]. There was no obviously variability （t = 0. 457, P 〉 0. 05 ） of basic FSH values between two groups [ G/G group was （7. 2 ± 2. 3） U/L, G/A ＆ A/A group was （7.1±2. 0） U/L]; there was obviously variability （t = 35.81,P 〈 0.05 ） in the number of follicles sinus between two groups （ G/G group was 14. 2 ± 1.3, G/A ＆ A/A group was 4. 5± 0. 8 ） ; there was obviously variability （ t = 40. 35, P 〈 0. 05 ） in the number of ovum pick-up between two groups （ G/G group was 14.0 ± 1.2, G/A ＆ A/A group was 4. 5 ±1.1 ） ; there was obviously variability （t =25. 80,P 〈0. 05） of E2-peak value between two groups [G/G group was （2 865±557） pmol/L,G/A ＆ A/A group was （880± 211 ） pmol/L] ;there was obviously variability （t = 40. 22 ,P 〈 0.05 ） in the number of mature eggs （ G/G group was 13.6 ± 1.2, G/A ＆ A/A group was 4. 3± 0.9）. Conclusion The 29th site of FSHR promoter significantly affect the activity of FSHR promoter. Mutation of G→A can weaken promoter activity, so that ovarian granulocyte poor respone to FSH.

关 键 词：颗粒细胞 卵泡刺激素受体 启动子 卵巢反应性 

分 类 号：R686[医药卫生—骨科学]