载脂蛋白E基因多态性与子痫前期的相关性

目的 探讨载脂蛋白E(apolipoprotein E,ApoE)基因多态性与子痫前期发生的关系.方法 应用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)技术对2007年1月至12月广东省妇幼保健院96例子痫前期患者和98例正常孕妇进行不同ApoE基因型分析,并观察两组血脂情况.结果 (1)子痫前期患者血清总胆固醇(TC)、甘油三脂(TG)、低密度脂蛋白胆固醇(LDL-C)显著升高,高密度脂蛋白胆固醇(HDL-C)显著下降(P<0.05).(2)在研究总人群中,ApoE等位基因频率分布分别为ε2(5.7%),ε3(85.8%),ε4(8.5%).在不同的ApoE基因型组,血脂水平不同,并且差异有统计学意义(P<0.01).TC、TG和LDL-C水平均按E3/4+E4/4组>E3/3组>E2/2+E2/3组的顺序降低,HDL-C水平按上述顺序升高.(3)子痫前期组ε3等位基因频率79.7%,明显低于对照组91.8%(P<0.05),ε4等位基因频率13.O%,明显高于对照组的4.1%,差异有统计学意义(P<0.01).结论 ApoE ε4等位基因可能是子痫前期的遗传危险因子.ApoE ε4等位基因与高脂血症相关.     

广东籍汉族妇女N5,10-MTHFR基因和eNOS基因多态性与子痫前期和子痫相关性的研究

目的:探讨N5,10-亚甲基四氢叶酸还原酶(MTHFR)基因及内皮型一氧化氮合酶(eNOS)基因多态性与广东籍汉族妇女子痫前期和子痫发病的关系。方法:567例广东籍汉族妇女中54例诊断为子痫前期或子痫,513例为正常妊娠(对照组)。应用PCR-RFLP方法,检测567例早孕期妇女外周血MTHFR基因C677T突变和eNOS基因G894T突变,计算各基因型的相对风险率。结果:子痫前期和子痫组MTHFR C/C、C/T及T/T基因型频率分别为59.2%、20.4%及20.4%,其中T/T基因型频率显著高于对照组(5.5%)(P<0.001),并且T等位基因频率为30.6%,显著高于对照组(20.5%)(P<0.05),T/T基因型在子痫前期或子痫发病中的相对风险率为4.431。子痫前期和子痫组的eNOS基因频率与对照组无显著差异。结论:广东籍汉族妇女MTHFR基因C677T多态性可能与子痫前期或子痫发病的易感性相关,eNOS基因G894T多态性与子痫前期或子痫发病的易感性无关。     

胎盘儿茶酚氧位甲基转移酶基因多态性与子痫前期的关系

目的:探讨胎盘儿茶酚氧位甲基转移酶(COMT)基因rs4680、rs6269位点单核苷酸多态性(SNP)与子痫前期发病的关系。方法:选择2011年3月至2012年8月在南方医科大学附属深圳市妇幼保健院产科住院分娩的孕妇217例,其中子痫前期孕妇92例为子痫前期组,健康孕妇125例为对照组,收集两组孕妇产后胎盘组织,提取胎盘DNA,应用基质辅助激光解吸电离飞行时间质谱(MALDI-TOF-MS)平台及MassARRAY-IPLEX技术对COMT基因rs4680及rs6269位点进行检测,分析其基因型及等位基因分布情况。结果:胎盘组织COMT基因rs4680位点基因型GG、GA、AA的基因型频率和G、A等位基因频率在子痫前期组与对照组之间的分布差异均无统计学意义(P0.05)。两组胎盘COMT基因rs6269位点GG、GA、AA 3种基因型频率差异有统计学意义(P=0.019);且G、A等位基因频率在子痫前期组和对照组分布差异有统计学意义(χ2=6.382,P=0.012),A/G OR=1.707(95%CI=1.125~2.590)。胎盘COMT rs4680与rs6269单核苷酸多态性与孕妇血压无明显相关性。结论:胎盘COMT rs6269单核苷酸多态性与子痫前期发生相关,携带A等位基因是发生子痫前期的危险因素;胎盘COMT rs4680单核苷酸多态性与子痫前期发生无关。     

母儿中HLA-G 14bp插入/缺失多态性在早发型、晚发型重度子痫前期和正常妊娠中分布的差异

目的：探讨早发型、晚发型重度子痫前期和正常妊娠中母儿HLA-G 14bp插入/缺失多态性分布的差异。方法：（1）分析早发型重度子痫前期31例,晚发型重度子痫前期25例,正常妊娠组30例;（2）采用聚合酶链反应技术（PCR）,对3组母儿进行HLA-G基因第8外显子14bp插入/缺失多态性的等位基因分型,分别比较3组母亲之间和3组新生儿之间等位基因及基因型的频率分布,通过母/儿基因型配伍,比较3组间基因型配伍频率分布的差异。结果：（1）早发型重度子痫前期组母/儿基因型配伍为母缺失纯合子（-/-14bp）/儿杂合子（＋/-14bp）出现的几率要高于晚发型组（χ2=5.034,P=0.025）,其和正常妊娠组相比有升高的趋势（χ2=3.685,P=0.055）;早发型重度子痫前期组母/儿基因型配伍为母杂合子（＋/-14bp）/儿缺失纯合子（-/-14bp）出现的几率要低于正常妊娠组（χ2=3.985,P=0.046）;（2）正常妊娠新生儿组HLA-G 14bp缺失多态性等位基因频率分布高于早发型组（χ2=6.270,P=0.012）,缺失纯合子（-/-14bp）基因型频率分布高于早发型组（χ2=6.139,P=0.013）。结论：（1）早发型重度子痫组母/儿HLA-G 14bp插入/缺失多态性基因型配伍的不同可能引起母儿之间免疫耐受异常,导致了早发型重度子痫前期的发生;（2）胎儿HLA-G 14bp缺失多态性可能降低了早发型重度子痫前期的发生。     

CTLA4基因rs231775位点多态性与淮安地区汉族孕妇子痫前期遗传易感性相关性的研究

目的探讨CTLA4基因单核苷酸多态性位点rs231775与淮安地区汉族子痫前期发病风险的相关性。方法选择2008年6月至2014年4月在江苏省淮安市妇幼保健院产科住院分娩的子痫前期患者392例,选择同期正常妊娠孕妇317例作为对照组,采用基质辅助激光解吸附电离飞行时间质谱对CTLA4基因rs231775位点进行基因分型。结果子痫前期组CTLA4基因rs231775多态性位点GG、AG和AA基因型频率分别为53%,39%和8%,等位基因频率G,A分别为72%和28%;而在对照组中GG、AG和AA频率分别为45%,41%和14%,等位基因频率G,A分别为65%和35%。经卡方检验rs231775位点在两组的基因型和等位基因频率之间差异有统计学意义(P=0.025)。结论淮安地区的人群CTLA4基因rs231775位点的多态性与子痫前期有一定的关联。     

ACE基因I/D多态性与子痫前期高血压和肾脏损害关系的研究

目的探讨血管紧张素转换酶（ACE）基因插入／缺失（I／D）多态性与子痫前期患者高血压和肾脏损害程度的相关性。方法选择子痫前期患者82例，正常孕妇45例，利用多聚酶链反应（PCR）分析其外周血白细胞中ACE基因多态性，计数两组孕妇ACE基因型和等位基因分布频率，比较不同基因型子痫前期患者高血压程度和肾功能。结果根据插入／缺失片段的有无，将ACE基因分为DD、ID、II三种基因型，子痫前期患者和正常孕妇ACE基因型和等位基因频率无统计学差异。子痫前期患者中携带D等位基因孕妇的收缩压和舒张压呈升高趋势，血清尿酸含量显著增加，但肌酐、尿素氮水平无统计学差异。结论ACE基因与子痫前期肾脏损害密切相关，携带D等位基因的子痫前期患者肾脏损害严重，血压也有升高趋势，提示D等位基因可能是子痫前期患者病情加重的不利因素。     

胸腺基质淋巴细胞生成素基因多态性与子痫前期的相关性研究

目的 探讨胸腺基质淋巴细胞生成素（TSLP）位点rs1898671、rs2289278,rs2289276及rs764916基因多态性与妊娠妇女子痫前期发生的相关性。方法 收集2012年11月至2013年6月中国医科大学附属盛京医院分娩的孕妇384例。其中病例组181例,对照组203例,病例组又分为子痫前期轻度组（97例）和子痫前期重度组（84例）。选取TSLP4个位点（rs1898671,rs2289276, rs2289278 and rs764916）,利用基质辅助激光解析电离飞行时间质谱（MALDI-TOF MS）技术分析该基因的4个位点。结果 各临床资料在病例组与对照组比较中差异均有统计学意义（P＜0.05）,子痫前期轻度组与对照组比较中除年龄外其他各临床资料比较,差异均有统计学意义（P＜0.05）,子痫前期重度组与对照组以及子痫前期轻度组比较中各临床资料差异均有统计学意义（P＜0.05）。位点rs1898671等位基因频率在病例组与对照组中差异有统计学意义（P=0.043, OR=2.682, 95% CI 1.020～7.054）。结论 TSLP位点rs1898671基因多态性与子痫前期的发病可能具有相关性。等位基因T为子痫前期的危险性等位基因。     

DNMT1基因多态性和被动吸烟与宫颈癌的相关性

目的：研究甘肃地区汉族女性DNA甲基转移酶1（DNMT1）基因多态性和被动吸烟与宫颈癌的相关性。方法：采用病例对照研究方法,选取甘肃地区100例宫颈癌患者和100例健康对照者,应用聚合酶链反应和基因测序法检测DNMT1基因多态性,比较不同基因型、被动吸烟与宫颈癌之间的关系。结果：被动吸烟者发生宫颈癌的相对危险性是无被动吸烟者的2.705倍（P＜0.05）;宫颈癌组rs16999593位点C等位基因频率高于对照组（P＜0.05）。结论：DNMT1基因的单核苷酸多态性和被动吸烟增加了宫颈癌的发病风险。     

子痫前期-子痫患者及其左心室损害与ACE和apoB基因型关联性的分析

目的:探讨血管紧张素转化酶(ACE)基因I/D多态性和载脂蛋白B(apoB)基因XbaI多态性对子痫前期子痫及其左心室损害的影响。方法:用聚合酶链反应-限制性内切酶片段长度多态性(PCR -RFLP)技术,检测103例子痫前期子痫患者及76例正常晚期妊娠妇女(对照组)的ACE基因I/D多态性和apoB基因XbaI多态性位点频率(两组孕妇的年龄及孕周相匹配),并对子痫前期子痫患者进行二维超声引导的M型超声检查。结果:子痫前期子痫组与对照组基因型与等位基因频率比较差异均无显著性(P>0 05)。但X+X- -(DD.ID)基因型与子痫前期子痫有关联(P<0 .05)。经校正其他因素影响后,子痫前期子痫组DD基因型患者左室重量指数和室壁相对厚度均高于II基因型患者(P<0 .05),经多元线性逐步回归分析,ACE基因型与左室重量指数和室壁相对厚度均独立相关,分别可解释左室重量指数和室壁相对厚度总变异的1 .76%和1 .4%。结论:X+X- -(DD+ID)基因型可能促进子痫前期子痫发生,并且ACE基因I/D多态性与其左室损害程度独立相关。     

人类白细胞抗原G基因14 bp缺失多态性与重度子痫前期发病的关系

目的 探讨人类白细胞抗原G(HLA-G)基因第8外显子14 bp缺失多态性与重度子痫前期发病的关系.方法 选择2008年10月至2009年2月在郑州大学第三附属医院妇产科住院的42例孕晚期重度子痫前期孕妇及其新生儿为重度子痫前期组.另选择同期正常孕晚期孕妇及其新生儿45例为健康晚孕组,两组孕妇均为汉族居民.采用PCR技术对两组孕妇及其新生儿进行HLA-G基因第8外显子14 bp缺失多态性的等位基因分析,分别比较两组孕妇及其新生儿之间等位基因及基因型的频率分布,通过母、儿基因型配伍,比较两组间基因型配伍频率分布的差异.结果 (1)重度子痫前期组中母、儿均为14 bp缺失纯合子(-14 bp/-14 bp)的基因型配伍的频率为14%(6/42),显著低于健康晚孕组的33%(15/45),两组比较,差异有统计学意义(P=0.038);(2)重度子痫前期组孕妇HIA-G第8外显子14 bp缺失多态性的等位基因频率、基因型频率与健康晚孕组比较,差异均尤统计学意义(P>0.05);(3)重度子痫前期组新生儿HLA-G第8外显子14 bp缺失多态性等位基因+14 bp频率为44%(37/84)、-14 bp为56%(47/84),健康晚孕组新生儿+14 bp为30%(27/90)、-14 bp为70%(63/90),两组比较,差异虽无统计学意义,但存在差异性趋势(P=0.055);重度子痫前期组新生儿(-14 bp/-14 bp)基因型频率为29%(12/42),与健康晚孕组的49%(22/45)相比,存在差异性趋势(P=0.052).结论 中国汉族孕妇中,HIJA-G第8外显子14 bp缺失多态性与重度子痫前期的发病有关;母、儿均为缺失纯合子(-14 bp/-14 bp)基因型配伍者,发生重度子痫前期的风险会降低.     

RELN基因单核苷酸多态性与儿童孤独症的关联分析

目的探讨汉族人群RELN基因单核苷酸多态性与儿童孤独症的关系。方法应用聚合酶链式反应和限制性片段长度多态性方法,测定孤独症患儿及正常儿童各30例的基因型和等位基因频率。结果 (1)两组exon6SNP基因型及等位基因频率差异均有统计学意义(P0.05);(2)两组exon50SNP基因型及等位基因频率差异均无统计学意义(P0.05)。结论 (1)exon6SNP与儿童孤独症相关;(2)exon50SNP与儿童孤独症无关。     

催产素受体基因与儿童孤独症关系的初步研究

目的探讨佳木斯地区人群催产素受体(oxytocin receptor,OXTR)基因多态性与儿童孤独症的关系。方法应用聚合酶链反应与限制性片断长度多态性分析方法,对30例孤独症儿童和30例正常儿童进行OXTR单核苷酸多态性片断rs2254298的等位基因和基因型测定。结果OXTR单核苷酸多态性片断rs2254298的基因型分布频率符合Hardy-Weinberg定律(P0.05),并且孤独症组和正常对照组在上述各位点等位基因频率和基因型分布差异有统计学意义(P0.05)。结论OXTR单核苷酸多态性片断rs2254298与儿童孤独症的发病有关。     

2019年英国妇科内镜学会/英国皇家妇产科医师学会《妊娠期腹腔镜手术指南》解读

迄今为止,尚无妊娠期腹腔镜手术的临床指南。近期,英国妇科内镜学会（the British Society for Gynaecological Endoscopy,BSGE）和英国皇家妇产科医师学会（the Royal College of Obstetricians and Gynaecologists,RCOG）制定了本指南,适用于妊娠期非产科腹部疾病的腹腔镜管理,包括妊娠期急性阑尾炎、急性胆囊疾病和良性附件肿瘤。指南建议只有具备专业腹腔镜技术并经常进行复杂腹腔镜手术的医生可行妊娠期腹腔镜手术。 浏览更多请关注本刊微信公众号及当期杂志。     

Polymorphisms of interleukin-6, hepatic lipase and calpain-10 genes, and preeclampsia

OBJECTIVE: We determined whether single nucleotide polymorphisms (SNPs) in interleukin-6 (IL-6), hepatic lipase (HL) and calpain-10 (CAPN-10) genes contribute to susceptibility to develop preeclampsia. STUDY DESIGN: The study involved 133 preeclamptic and 115 healthy pregnant women who were genotyped for the C-174G polymorphism in the IL-6 gene, the G-250A polymorphism in the HL gene and SNP 43 (G/A) in the CAPN-10 gene. The chi2-test was used to assess genotype and allele frequency differences between the preeclamptic and control groups. RESULTS: No significant differences were detected in genotype and allele distributions of the C-174G polymorphism in the IL-6 gene, between the preeclampsia and control groups (p=0.98 and 0.85, respectively). With respect to the G-250A polymorphism in the HL gene, the genotype and allele distributions were similar in both groups (p=0.64 and 0.48, respectively). The genotype and allele distributions of SNP 43 in the CAPN-10 gene also showed no statistical differences in the preeclampsia and control groups (p=0.73 and 0.45, respectively). CONCLUSIONS: The C-174G polymorphism in the IL-6 gene, the G-250A polymorphism in the HL gene and SNP 43 (G/A) in the CAPN-10 gene are unlikely to be major genetic factors predisposing Finnish women to preeclampsia.     

Plasma cell membrane glycoprotein-1 K121Q polymorphism in preeclampsia

BACKGROUND: Preeclampsia is a common hereditary disease with unclear aetiology and various genetic and environmental components. We wanted to determine whether genetic variability in the gene encoding plasma cell membrane glycoprotein-1 (PC-1) contributes to individual susceptibility to the development of preeclampsia. METHODS: The case-control study involved 133 women with preeclampsia and 115 healthy controls. They were genotyped for the K121Q polymorphism in the PC-1 gene. chi(2) analysis was used to assess genotype and allele frequency differences between preeclamptic and control women. RESULTS: The frequency of the PC-1 gene 121K allele was found to be equal in the two groups, being 90.2% among women with preeclampsia and 90.4% among controls (p = 0.937; OR = 1.024; 95% CI = 0.564-1.861). Also the genotype distribution of the PC-1 K121Q polymorphism was similar (p = 0.516) in the preeclamptic and control groups. CONCLUSIONS: The K121Q polymorphism of the PC-1 gene is unlikely to be a major genetic factor predisposing to preeclampsia in Finnish women.     

维生素D受体基因多态性与中国汉族儿童结核病易感性的研究

目的　探讨维生素D受体（VDR）基因多态性与中国汉族儿童结核病易感性的关系。 方法　收集2005年1月至2008年3月北京儿童医院收治的125例汉族儿童 结核病患儿,以同期在北京儿童医院门诊行外科手术（如疝、牙齿矫正、鞘膜积液等）前查体的446例患儿作为对照,对照组无结核病史,X线胸片无异常,PPD皮 试硬结直径小于5 mm,按照年龄、性别以及居住地与病例组进行匹配,采用聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP）检测VDR基因上的Fok I和Taq I位点多态性,采用SPSS 12.0软件对病例组和对照组的基因型和等位基因频率进行卡方检验。 结果　结核组和对照组Fok I位点的FF、Ff、ff基因型频率分别为 29.6%、51.2%、19.2%和27.6%、50.9%、21.5%;Taq I位点的TT、Tt、tt基因型频率分别为90.4%、9.6%、0和86.8%、13.0%、0.2%;结核组和对照组在基因型频率 和等位基因频率分布上差异均无统计学意义。将样本按性别进行分组比较后发现,不同性别中病例组和对照组儿童的基因型和等位基因频率之间的差异无统计学 意义。 结论　VDR基因上的Fok I和Taq I位点的多态性与中国汉族儿童结核病的易感性无明显相关性。     

BDNF基因多态性与女性抑郁症帕罗西汀治疗反应的关系

目的:探讨脑源性神经营养因子(brain derived neurotrophic factor,BDNF)基因G196A多态性与女性抑郁症患者帕罗西汀治疗反应的相关性。方法:检测63例女性抑郁症患者(患者组)和113例健康对照者(对照组)汉密尔顿抑郁量表评分(HAMD)和BDNF基因G196A的基因型,患者组治疗4周后复测HAMD,并根据患者对帕罗西汀的治疗反应分为反应组(Rp组,47例)和非反应组(non-Rp组,16例)。结果:患者组与对照组的基因型、等位基因频率和等位基因携带分布无显著差异。BDNF基因G196A多态性的基因型、等位基因频率及等位基因携带Rp组和non-Rp组有显著差异。Rp组A等位基因携带(GA+AA)显著高于non-Rp组(χ2=6.336,P=0.012,OR=5.429,95%CI=1.593~18.502),两组A等位基因频率分布也有显著差异(χ2=4.608,P=0.0318,OR=2.500,95%CI=1.068~5.850)。结论:BDNF基因G196A多态性与女性抑郁症患者帕罗西汀治疗反应相关,A等位基因携带者对帕罗西汀的反应较好。     

Association study between variants in LHCGR DENND1A and THADA with preeclampsia risk in Han Chinese populations

Objective: To evaluate the association between preeclampsia and three single nucleotide polymorphisms (rs13405728 in LHCGR gene; rs13429458 in THADA gene, and rs2479106 in DENND1A gene) which were identified to be genetic variants of polycystic ovary syndrome (PCOS) by genome-wide association study in Han Chinese populations.

Methods: A total of 784 northern Han Chinese women (378 controls and 406 cases) were genotyped for the three genetic variants by polymerase chain reaction and direct sequencing. Unconditional logistic regression analysis was used to adjust the impact of prepregnancy body mass index, primiparas, and maternal age.

Results: No significant difference was found in the allele frequencies of the three genetic variants between cases and controls (p?>?.05), but genotype frequency of the SNP rs2479106 was significantly differ between cases and controls when analyzed under recessive models (p?=?.02). There was also a substantial difference in the genotype frequencies of the SNP rs13429458 between cases and controls under additive models (p?=?.01).

Conclusions: Genetic variants of PCOS (rs13405728 in LHCGR gene; rs13429458 in THADA gene and rs2479106 in DENND1A gene) may not be involved in the development of preeclampsia in Han Chinese women.     

Angiotensin-converting enzyme insertion/deletion (ACE I/D) and angiotensin II type 1 receptor (AT1R) gene polymorphism and its association with preeclampsia in Chinese women.

OBJECTIVE: To investigate whether polymorphisms of angiotensin converting enzyme gene (ACE) and angiotensin II receptor type 1 gene (AT1R) are associated with etiology of preeclampsia and renal impact in women with preeclampsia. METHODS: DNA was extracted from peripheral blood of 133 patients with preeclampsia and 105 healthy pregnant women. The I/D polymorphism of the ACE gene was assessed by polymerase chain reaction, and the A1166C polymorphism of the AT(1)R gene was additionally assessed by DdeI digestion. The level of proteinuria, fasting serum urea, creatinine and uric acid were investigated according to different genotypes of ACE and AT1R genes. RESULTS: The frequency of genotypes of the ACE gene and the AT1R gene was similar in preeclampsia and normal pregnancy. DD and ID genotype predominated in patients with severe proteinuria, as well as increased serum urea and uric acid. Serum creatinine was also increased, but no significant difference was found among three genotypes. The level of proteinuria, serum uric acid, urea, and creatinine did not vary between different AT1R genotypes. Compared with patients without renal dysfunction, the frequency of DD and ID genotypes of ACE gene was much higher in those with renal dysfunction, but AC and CC genotypes of AT1R gene were not. CONCLUSION: We found no association of the two gene polymorphisms with preeclampsia. However, ACE gene I/D polymorphisms were associated with the severe proteinuria and renal dysfunction seen in preeclampsia. Preeclampsia patients carrying the D allele may be susceptible to renal dysfunction.     

Interaction between the polymorphisms of the renin-angiotensin system in preeclampsia

Preeclampsia is considered to be a multifactorial and multisystemic disorder with a genetic predisposition. Alterations in the renin-angiotensin system are considered to play a significant role in the pathogenesis of the disease. In order to investigate the possible association of the three most common polymorphisms of the renin-angiotensin system genes with preeclampsia we have examined 41 women with preeclampsia and 102 normotensive pregnant women. DNA samples were genotyped for the M235T polymorphism of the angiotensinogen gene (AGT), the insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme gene (ACE) and the A1166C polymorphism of the angiotensin II type 1 receptor gene (AT1R) by PCR. Allele and genotype frequencies of the AGT gene polymorphism differed between the two study groups. The TT genotype of the M235T polymorphism was significantly increased in women who developed preeclampsia (P<0.02). In addition, women with preeclampsia and TT genotype had more frequently the DD genotype or the 1166C allele than the control group showing a significant interaction between the genes. In conclusion, we found an association between the angiotensinogen variant 235T and preeclampsia as well as an interaction between the variant 235T and the two other genes studied.