中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2009年
1期
40-44
,共5页
张娟%白怀%刘兴会%范平%刘瑞%何国琳
張娟%白懷%劉興會%範平%劉瑞%何國琳
장연%백부%류흥회%범평%류서%하국림
妊娠高血压疾病%重症子痫前期%雌激素受体α基因%遗传多态性
妊娠高血壓疾病%重癥子癇前期%雌激素受體α基因%遺傳多態性
임신고혈압질병%중증자간전기%자격소수체α기인%유전다태성
pregnancy induced hypertension%severe preeclampsia%estrogen receptor a gene%genetic polymorphism
目的 探讨雌激素受体αa(estrogen receptor,ESRa)基因变异是否与重度子痫前期发病有关联.方法 采用聚合酶链反应-限制性片段长度多态性分析法对成都地区131例重度子痫前期患者和223名健康孕妇ESRα基因PvuⅡ和XbaⅠ多态性进行分析.结果 ESRα基因PvuⅡ位点T、C等位基因的频率在重度子痫前期组为0.580、0.420.在正常孕妇组为0.576、0.424;Xba Ⅰ位点A、G等位基因的频率在重度子痫前期组为0.763、0.237,在正常孕妇组为0.807、0.193.上述位点在两组间等位基因的频率差异均无统计学意义(P>0.05).经调整年龄和体重指数因素后,正常孕妇组PvuⅡ位点T等位基因携带者(TT或TC基因型者)收缩压水平显著高于CC纯合型者[(114.00±1.44)mmHg或(114.33±1.21)mmHg vs(108.62土1.91)mmHg,P<0.05];未见重度子痫前期组该位点对血压水平存在影响.也未见正常孕妇组和患者组Xba Ⅰ位点与血压水平有关联.结论 ESRa基因PvuⅡ和Xba Ⅰ多态性与成都地区汉族人重度子痫前期的发病无关联,但Pvu Ⅱ多态性与正常妊娠妇女的收缩压水平有关.
目的 探討雌激素受體αa(estrogen receptor,ESRa)基因變異是否與重度子癇前期髮病有關聯.方法 採用聚閤酶鏈反應-限製性片段長度多態性分析法對成都地區131例重度子癇前期患者和223名健康孕婦ESRα基因PvuⅡ和XbaⅠ多態性進行分析.結果 ESRα基因PvuⅡ位點T、C等位基因的頻率在重度子癇前期組為0.580、0.420.在正常孕婦組為0.576、0.424;Xba Ⅰ位點A、G等位基因的頻率在重度子癇前期組為0.763、0.237,在正常孕婦組為0.807、0.193.上述位點在兩組間等位基因的頻率差異均無統計學意義(P>0.05).經調整年齡和體重指數因素後,正常孕婦組PvuⅡ位點T等位基因攜帶者(TT或TC基因型者)收縮壓水平顯著高于CC純閤型者[(114.00±1.44)mmHg或(114.33±1.21)mmHg vs(108.62土1.91)mmHg,P<0.05];未見重度子癇前期組該位點對血壓水平存在影響.也未見正常孕婦組和患者組Xba Ⅰ位點與血壓水平有關聯.結論 ESRa基因PvuⅡ和Xba Ⅰ多態性與成都地區漢族人重度子癇前期的髮病無關聯,但Pvu Ⅱ多態性與正常妊娠婦女的收縮壓水平有關.
목적 탐토자격소수체αa(estrogen receptor,ESRa)기인변이시부여중도자간전기발병유관련.방법 채용취합매련반응-한제성편단장도다태성분석법대성도지구131례중도자간전기환자화223명건강잉부ESRα기인PvuⅡ화XbaⅠ다태성진행분석.결과 ESRα기인PvuⅡ위점T、C등위기인적빈솔재중도자간전기조위0.580、0.420.재정상잉부조위0.576、0.424;Xba Ⅰ위점A、G등위기인적빈솔재중도자간전기조위0.763、0.237,재정상잉부조위0.807、0.193.상술위점재량조간등위기인적빈솔차이균무통계학의의(P>0.05).경조정년령화체중지수인소후,정상잉부조PvuⅡ위점T등위기인휴대자(TT혹TC기인형자)수축압수평현저고우CC순합형자[(114.00±1.44)mmHg혹(114.33±1.21)mmHg vs(108.62토1.91)mmHg,P<0.05];미견중도자간전기조해위점대혈압수평존재영향.야미견정상잉부조화환자조Xba Ⅰ위점여혈압수평유관련.결론 ESRa기인PvuⅡ화Xba Ⅰ다태성여성도지구한족인중도자간전기적발병무관련,단Pvu Ⅱ다태성여정상임신부녀적수축압수평유관.
Objective To assess the allele and genotype frequencies of the estrogen receptor α (ESRα)Pvu Ⅱ and Xba Ⅰ polymorphisms in patients with severe preeclampsia and compare them with those of normal pregnant women.Methods Blood samples from 131 patients with severe preeelampsia and 223 normal pregnant women from Chinese Han in Chengdu area were analyzed.using PCR-RFLP method.Pregnant patients with blood pressure exceeding 140/90 mmHg(or 18.7/12 kPa)were recruited with a strict definition of preeelampsia.Genotyping was performed using PCR-RFLP for Pvu Ⅱ and Xba Ⅰpolymorphisms in the ESRa gene.Results The T and C allele frequencies for Pvu Ⅱ site were 0.580 and 0.420 in the patient group,and 0.576 and 0.424 in the controls,respectively.The A and G allele frequencies for Xba Ⅰ site were 0.763 and 0.237 in the patient group,and 0.807 and 0.1 93 in control group,respectively.No significant difference in the allele frequencies of either site was observed between the two groups.However,the CC homozygotes or CT heterozygotes in the control pregnant women had higher systolic blood pressure levels than TT homozygotes for Pvu Ⅱ site after the data was adjusted for age and BMI(114.00±1.44 mmHg or 114.33±1.21 mmHg vs.108.62±1.91 mmHg,P<0.05).No genotype effect on the blood pressures was found for Pvu Ⅱ site in the case group,nor for Xba Ⅰ site in either group.Conclusion Our work has excluded the association of the ESRa Pvu Ⅱ and Xba Ⅰpolymorphism with severe preeelampsia in a Southwest Chinese population,although this polymorphism may be associated with the systolic blood pressure level in the normal pregnant women.