本文選題：特發(fā)性中樞性性早熟 + 雌激素受體β基因�。� 參考：《南方醫(yī)科大學(xué)》2017年碩士論文

【摘要】：1.研究背景性早熟是指女童在8歲前、男童在9歲前出現(xiàn)第二性征的發(fā)育。根據(jù)發(fā)病機(jī)制可分為中樞性性早熟(central precocious puberty,CPP)、外周性性早熟(peripheral precocious puberty,PPP)及部分性早熟。中樞性性早熟中無器質(zhì)性病變的則稱之特發(fā)性中樞性性早熟(idiopathic central precocious puberty,ICPP),ICPP主要因下丘腦-垂體-性腺軸功能的提前釋放(Hypothalamic-pituitary-gonad alaxis,HPGA)而使兒童出現(xiàn)乳腺發(fā)育、月經(jīng)早潮、骨骺提前閉合,身材矮小等表現(xiàn)。隨著生活水平的提高,飲食習(xí)慣和周圍環(huán)境的改變,性早熟的發(fā)病率呈逐年上升的趨勢[2],多見于女童。性早熟的病因和發(fā)病機(jī)制復(fù)雜多樣,因器質(zhì)性疾病導(dǎo)致性早熟較少,多數(shù)因內(nèi)分泌功能紊亂引起[37]。最近研究指出環(huán)境內(nèi)分泌干擾物(environmental endocrine disruptors,EEDs)能夠通過影響 HPGA 的啟動和功能,引起機(jī)體內(nèi)分泌系統(tǒng)功能紊亂而導(dǎo)致性早熟。在基因突變和基因多態(tài)性研究的基礎(chǔ)上探索性早熟的病因越來越受到關(guān)注。但雌激素受體β基因多態(tài)性與性早熟的相關(guān)報道較少[17-19]。本研究擬檢測ICPP女童雌激素受體β基因Rsa Ⅰ、Alu Ⅰ基因多態(tài)性,探討其與中樞性性早熟發(fā)生的關(guān)系。2.研究目的通過觀察ICPP女童ERβ基因Rsa Ⅰ、Alu Ⅰ多態(tài)性,探討與中樞性性早熟發(fā)生的關(guān)系,為其分子遺傳基礎(chǔ)提供依據(jù)。3材料與方法3.1研究對象從2013年1月到2014年08月在深圳市婦幼保健院兒科內(nèi)分泌門診及住院部的病人中選取100例ICPP女童。她們經(jīng)體格檢查、臨床表現(xiàn)和影像學(xué)檢查,再經(jīng)過GnRH激發(fā)試驗(yàn)均符合ICPP的診斷標(biāo)準(zhǔn)[61-62]。所有的研究對象初次就診的年齡在4-10.5歲,平均為(6.690±1.580)歲。在同一時期隨機(jī)選擇在我院體檢均健康的100例女童作為對照組,她們均生長發(fā)育正常,無相關(guān)腫瘤及慢性消耗性疾病。其就診年齡在3.83-10.00歲,平均為(5.81±1.12)歲,ICPP組與對照組間的年齡差異無統(tǒng)計學(xué)意義(t=0.87,P0.05)。3.2實(shí)驗(yàn)方法(1)收集ICPP女童和對照組女孩的外周靜脈血3ml,以待檢測ERβ Rsa Ⅰ、Alu Ⅰ基因多態(tài)性。(2)通過PCR-DNA測序的方法,對ICPP女童和正常健康組女童的ERβ RsaⅠ和Alu Ⅰ基因多態(tài)性的長度進(jìn)行檢測,進(jìn)一步發(fā)現(xiàn)ERβ基因Rsa Ⅰ、Alu Ⅰ的基因型分布和R等位基因及A等位基因的基因頻率。(3)采用SPSS 13.0軟件進(jìn)行統(tǒng)計學(xué)的數(shù)據(jù)分析,分別統(tǒng)計兩組基因型頻率和等位基因頻率的分布情況,組間差異用X2檢驗(yàn),計算OR值和95%CI,以P0.05有統(tǒng)計學(xué)意義。4.結(jié)果4.1 Rsa Ⅰ基因多態(tài)性分析Rsa Ⅰ基因型及R等位基因頻率在兩組中的分布差異均有統(tǒng)計學(xué)意義(X2=5.960,P=0.045;X2=4.771,P=0.029),ICPP 組的 R等位基因頻率是41.50%,高于對照組的30.00%,OR值是1.579(95%CI 1.047～2.382,P0.05),ICPP組和對照組在基因型分布上分別是Rr與rr基因型所占比例較高,均為51%和48%。4.2 Alu Ⅰ基因多態(tài)性分析AluⅠ基因型及A等位基因頻率在兩組中分布差異均無統(tǒng)計學(xué)意義(X2= 2.889,P=0.236;X2=2.749,P=0.097),A等位基因頻率在ICPP組中是18.5%,在對照組中則為12.5%,OR值是1.589(95%CI 0.916～2.755,P0.05),基因型分布上ICPP組和對照組中均是aa基因型所占比例較高,各占66%和76%。4.3 Rsa Ⅰ和Alu Ⅰ基因多態(tài)性聯(lián)合分析9種單體型分布經(jīng)卡方檢驗(yàn)在兩組間差異有顯著統(tǒng)計學(xué)意義(X2=15.821,P=0.045),其中ICPP組Rraa基因型構(gòu)成比(39%)高于對照組構(gòu)成比(31%),而rraa基因型構(gòu)成比(20%)低于對照組(42%)。5結(jié)論ERβ基因RsaⅠ多態(tài)性與ICPP的發(fā)病可能有關(guān),攜帶Rsa Ⅰ的R等位基因發(fā)生ICPP的相對風(fēng)險是r基因的1.579倍(95%CI 1.047～2.382,P0.05)。R等位基因可能是ICPP女童遺傳易感基因,Rr基因型易于患病,Rraa基因型有可能是ICPP的潛在危險因素。
[Abstract]:1. background precocious precocious puberty refers to the child's development of secondary sex before the age of 8. According to the pathogenesis, it can be divided into central precocious puberty (CPP), peripheral precocious puberty (peripheral, precocious puberty, PPP) and partial precocious puberty. The non organic lesions of central precocious puberty are called idiopathic Sexual central precocious puberty (idiopathic central precocious puberty, ICPP), ICPP mainly due to the premature release of the hypothalamus pituitary - gonadal axis (Hypothalamic-pituitary-gonad alaxis, HPGA), which makes the children develop mammary development, menstrual early tide, early closure of the epiphysis, short body and so on. With the improvement of living standard, eating habits and weeks The incidence of precocious puberty is increasing year by year in [2], which is often seen in girls. The etiology and pathogenesis of precocious puberty are complex and varied, because of organic diseases that lead to less precocious puberty, and most of the endocrine dysfunction caused by [37]. recently indicated that the environmental endocrine disruptors (EEDs) can be found. The cause of precocious puberty is caused by the disturbance of the function of HPGA and the dysfunction of the endocrine system in the body. On the basis of gene mutation and gene polymorphism, the etiology of precocious puberty is becoming more and more concerned. However, the correlation between estrogen receptor beta gene polymorphism and precocious puberty is less [17-19]. this study is to detect ICPP girls Estrogen receptor beta gene Rsa I, Alu I gene polymorphism, to explore the relationship with central precocious puberty,.2. research aims to explore the relationship between ICPP girl ER beta gene Rsa I and Alu I polymorphism, explore the relationship with central precocious precocious puberty, and provide the basis for the molecular genetic basis of.3 materials and methods 3.1 from January 2013 to In 08 months of 2014, 100 ICPP girls were selected in the pediatric endocrinology clinic and inpatient department of Shenzhen maternal and child health care hospital. They were examined by physical examination, clinical manifestation and imaging examination, and the GnRH tests were all consistent with the diagnostic standard of ICPP [61-62].. The age of the first diagnosis was 4-10.5 years, the average was (6.690 + 1.580). In the same period, 100 girls were randomly selected as the control group in the physical examination of our hospital. All of them had normal growth and development, without related tumors and chronic consumptive diseases. The age of their treatment was 3.83-10.00 years old, the average age was (5.81 + 1.12) years old. There was no statistical significance (t=0.87, P0.05).3.2 test method (1) between group ICPP and control group. The peripheral venous blood 3ml of ICPP girls and control girls was collected to detect the polymorphism of ER beta Rsa I and Alu I gene. (2) the length of ER beta Rsa I and Alu I gene polymorphisms in ICPP girls and normal health groups were detected by PCR-DNA sequencing, and ER beta gene Rsa I, genotype distribution and etc. The gene frequency of the allele and A allele. (3) the SPSS 13 software was used to analyze the statistical data, and the distribution of the genotype frequency and allele frequency of the two groups were statistically analyzed. The difference between groups was calculated by X2 test, and the OR value and 95%CI were calculated, and P0.05 had statistical significance of.4. knot fruit 4.1 Rsa I gene polymorphism analysis of Rsa I genotype and R. The distribution of allele frequencies in the two groups were statistically significant (X2=5.960, P=0.045; X2=4.771, P=0.029), and the R allele frequency in ICPP group was 41.50%, higher than that of the control group, and the OR value was 1.579 (95%CI 1.047 to 2.382, P0.05), and the proportion of Rr and RR genotypes in the ICPP and control groups was higher, respectively. 51% and 48%.4.2 Alu I gene polymorphism analysis of Alu I genotype and A allele frequency in the two groups were not statistically significant (X2= 2.889, P=0.236; X2=2.749, P=0.097), and A allele frequencies were 18.5% in ICPP group, 12.5% in the control group and 1.589 in the OR (95%CI 0.916 to 2.755). In the control group, the proportion of AA genotypes was higher, each of which accounted for 66% and 76%.4.3 Rsa I and Alu I gene polymorphism combined analysis of 9 types of haplotype distribution through chi square test had significant statistical significance (X2=15.821, P=0.045), of which the ICPP group Rraa genotype ratio (39%) was higher than that of the control group (31%), and the rraa genostructure was found. Compared with the control group (42%).5 conclusion, the Rsa I polymorphism of ER beta gene may be related to the pathogenesis of ICPP. The relative risk of ICPP is 1.579 times that of R gene (95%CI 1.047 ~ 2.382, P0.05).R allele is likely to be the genetic susceptibility gene of the ICPP girls. Potential risk factors for P.

【學(xué)位授予單位】：南方醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2017
【分類號】：R725.8

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