本文選題：維生素D + 性早熟�。� 參考：《南昌大學(xué)》2017年碩士論文

【摘要】：目的:探討性早熟女童維生素D濃度變化及VDR基因多態(tài)性表達(dá)的差異,明確Vit D和VDR基因多態(tài)性在兒童性早熟的發(fā)生發(fā)展中可能的生物學(xué)效應(yīng),揭示Vit D在性早熟女童發(fā)生發(fā)展的部分作用機(jī)制,為性早熟的治療提供新的思路。方法:1、根據(jù)《2010衛(wèi)生部性早熟診療指南(試行)【衛(wèi)辦醫(yī)政發(fā)(195)號】的診斷和分組標(biāo)準(zhǔn),將40例中樞性性早熟女童、40例健康對照組女童作為研究對象。采集各組患兒外周血標(biāo)本分裝于EDTA-K2抗凝管和普通干燥管中,并收集年齡、乳房發(fā)育年齡、乳房發(fā)育Tanner分期,骨齡,子宮體積等臨床資料。2、運(yùn)用化學(xué)發(fā)光法檢測血清中性激素及Vit D的濃度。3、同時(shí)提取外周血DNA,-80℃保存,待一批送往上海生工有限公司進(jìn)行VDR多態(tài)性位點(diǎn)Apa I(rs7975232)、Bsm I(rs1544410)、Taq I(rs731236)、FokI(rs2228570)的檢測。結(jié)果:1.外周血清中25-OH Vit D水平:性早熟患兒組與正常對照組比較,中樞性早熟患兒25-OH Vit D水平為45.51(35.06,54.24)nmol/L,健康兒童25-OH Vit D水平為60.25(52.19,72.95)nmol/L。兩組的差別有統(tǒng)計(jì)學(xué)意義(P0.05)。2.維生素D水平與臨床特征如乳房發(fā)育Tanner分期,子宮體積,骨齡超前無相關(guān)性(P0.05)。3.VDR多態(tài)性位點(diǎn)Apa I(rs7975232)、Bsm I(rs1544410)、Taq I(rs731236)、Fok I(rs2228570)檢測結(jié)果如下:3.1 rs1544410(Bsm I)基因序列的野生基因型為CC,突變基因型為CT和TT。中樞性性早熟組與正常對照組均未檢測到另一突變基因型TT,但檢測到的基因型CC、CT在兩組中的分布差異也無統(tǒng)計(jì)學(xué)意義(X~2=0.721,P=0.396)。3.2 rs2228570(Fok I)基因序列的野生基因型為AA,突變基因型是GA、GG,此三種基因型在中樞性性早熟和正常對照組的分布差異無統(tǒng)計(jì)學(xué)意義(X~2=3.414,P=0.181)。3.3 rs731236(Taq I)基因序列的野生基因型為AA,突變基因型為GA和GG,中樞性性早熟組與正常對照組均未檢測到突變型基因GG�；蛐虯A、GA在兩組中的分布差異無統(tǒng)計(jì)學(xué)意(X~2=0.000,P=1.000)。3.4 rs7975232(Apa I)基因序列的野生基因型為CC,突變基因型為CA、AA。三種基因型在兩組的分布差異有統(tǒng)計(jì)學(xué)意義(X~2=9.833,P=0.007)。結(jié)論:1、性早熟女童維生素D的水平低于健康女童,提示血清維生素D水平可能對性早熟發(fā)病有影響。)2、維生素D影響女童對性早熟的易感性,不影響其臨床特征。3、Apa I(rs7975232)的不同基因型在兩組中的分布差異有統(tǒng)計(jì)學(xué)意義,提示該基因序列的多態(tài)性可能在性早熟的發(fā)病機(jī)制中發(fā)揮作用,影響其易感性。Bsm I(rs1544410)、Taq I(rs731236)、Fok I(rs2228570)的不同基因型以及等位基因在兩組中的分布差異無統(tǒng)計(jì)學(xué)意義,提示其多態(tài)性可能與性早熟的發(fā)病無關(guān)。4、維生素D對女童性早熟的影響可能是通過VDR基因位點(diǎn)Apa I(rs7975232)的多態(tài)性來起作用的。
[Abstract]:Objective: to investigate the changes of vitamin D concentration and the expression of VDR gene polymorphism in girls with precocious puberty, and to clarify the possible biological effects of Vit D and VDR gene polymorphisms on the occurrence and development of precocious puberty in children. To reveal the mechanism of Vit D in the development of precocious girls, and to provide a new idea for the treatment of precocious puberty. Methods according to the diagnostic and grouping criteria of < 2010 Ministry of Health guidance for diagnosis and treatment of precocious puberty, 40 cases of central precocious puberty girls and 40 healthy control girls were studied. Peripheral blood samples of each group were divided into EDTA-K2 anticoagulant tube and common dry tube. Age, breast development stage and bone age were collected. The concentration of sex hormone and Vit D in serum was detected by chemiluminescence method. The peripheral blood DNA was preserved at -80 鈩，

本文編號：2065870