發(fā)布時間：2018-02-24 09:22

  本文關(guān)鍵詞： 骨表型 遺傳相關(guān) 環(huán)境相關(guān) 表型相關(guān) IL-6基因 數(shù)量性狀傳遞不平衡檢測(QTDT)　出處：《湖南師范大學(xué)》2005年碩士論文　論文類型：學(xué)位論文

【摘要】：骨質(zhì)疏松癥已經(jīng)成為世界范圍的重要健康問題。骨礦含量(Bonemineral content,BMC)、骨密度(Bone mineral density,BMD)和骨大小(Bone Size)是骨質(zhì)疏松癥研究的三個重要替代表型,大量的遺傳學(xué)研究都集中在尋找與BMC和BMD變異相關(guān)的基因,然而鑒定與骨大小變異相關(guān)基因的研究卻很少。白介素6(Interleukin-6,IL-6)是參與破骨細(xì)胞的分化及功能的一種多效細(xì)胞因子。本研究的目的有兩個方面:一方面,通過雙變量方差成分分解分析法估計中國核心家庭中BMD,BMC和骨大小之間的遺傳(ρ_G)、環(huán)境(ρ_E)以及表型相關(guān)(ρ_P);另一方面,利用數(shù)量性狀傳遞不平衡檢測(QTDT)法檢測IL-6基因(CA)n位點與BMD和骨大小的關(guān)聯(lián)和連鎖。本研究所有的研究樣本均來自401個中國核心家庭。腰椎和髖部的BMC(g)、BMD(g/cm~2)和骨大小(cm~2)均采用雙能X射線骨密度儀(Dual-energy X-ray Absorptiometry,DXA)測量得到。IL-6基因(CA)n位點的基因型用PE377測序儀及相關(guān)軟件得到。結(jié)果顯示,除了髖部BMD和骨大小的ρ_E不顯著(p=0.361)外,BMD、BMC和骨大小間的ρ_E、ρ_G和ρ_P均顯著。同一部位BMD和BMC的變異大部分由共同的遺傳和環(huán)境因子決定。BMD和BMC之間的環(huán)境、遺傳和表型相關(guān)系數(shù)在腰椎分別0.872、0.928和0.897,髖部分別為0.745、0.775和0.752。腰椎BMD和BMC遺傳變異的86.1%和髖部BMD和BMC遺傳變異的60%是由共同的遺傳因素引起的。然而引起同一部位BMD和骨大小變異的共同的遺傳和環(huán)境因素非常少。共同的遺傳因素僅能解釋腰椎BMD和骨大小變異的14.5%以及髖部BMD和骨大小變異的4.2%;此外,ρ_E、ρ_G和ρ_P在腰椎和髖部有位點特異性,特別是
[Abstract]:Osteoporosis has become an important health problem worldwide. Bone mineral content (BMC), bone mineral density (BMD) and bone size bone (BSE) are three important alternative phenotypes in the study of osteoporosis. A lot of genetic research has focused on finding genes associated with BMC and BMD mutations. However, the identification of genes associated with bone size variation is rare. Interleukin-6interleukin-6 (IL-6) is a multipotent cytokine involved in the differentiation and function of osteoclasts. The purpose of this study is twofold: on the one hand, interleukin 6 is a multipotent cytokine involved in the differentiation and function of osteoclasts. The genetic and phenotypic correlations between BMD-BMC and bone size in Chinese nuclear families were estimated by means of bivariate variance component decomposition analysis (BMD-BMC) and bone size. The association and linkage of IL-6 gene with BMD and bone size were detected by quantitative trait transfer disequilibrium (QT DTT) method. In this study, all the samples were obtained from 401 Chinese nuclear families. The genotypes of the loci of the. IL-6 gene were measured by dual energy X-ray absorptiometry (Dual-energy X-ray absorptiometry DXA). The results showed that the genotypes of the alleles of the. IL-6 gene were sequenced by PE377 sequencer and related software. Except for BMD of hip and 蟻 _ S of bone size, there was significant difference between BMD-BMC and bone size. The variation of BMD and BMC in the same area was mostly determined by the common genetic and environmental factors. The environment between BMD and BMC was determined by common genetic and environmental factors. The genetic and phenotypic correlation coefficients of lumbar vertebrae were 0.928 and 0.897, respectively, and those of hip were 0.775 and 0.752.The genetic variation of BMD and BMC in lumbar vertebrae and 60% of BMD and BMC in hip were caused by common genetic factors. However, BMD occurred at the same site. The common genetic and environmental factors of bone size variation are very few. The common genetic factors can only explain the lumbar spine BMD and bone size variation 14.5% and hip BMD and bone size variation 4.2. In addition, 蟻 E, 蟻 S G and 蟻 P have locus specificity in lumbar spine and hip. In particular,
【學(xué)位授予單位】：湖南師范大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2005
【分類號】：Q987

【參考文獻】

相關(guān)期刊論文 前7條

1 章振林,孟迅吾,周學(xué)瀛,邢小平,夏維波,余衛(wèi),田均平;婦女降鈣素受體基因型與骨密度的關(guān)系[J];基礎(chǔ)醫(yī)學(xué)與臨床;2000年03期

2 張秀珍,李穎;絕經(jīng)期婦女雌激素受體基因多態(tài)性與骨密度的相關(guān)性研究[J];同濟大學(xué)學(xué)報(醫(yī)學(xué)版);2002年01期

3 樸俊紅,龐蓮萍,劉忠厚,向青,蘇南,潘子昂,郭亦超,李芳芳,李扶剛,劉京萍,陳仲景,王曉敏,扈英偉,張燕晴,王曉紅,程曉光;中國人口狀況及原發(fā)性骨質(zhì)疏松癥診斷標(biāo)準(zhǔn)和發(fā)生率[J];中國骨質(zhì)疏松雜志;2002年01期

4 張紅紅,陶國樞,劉建偉,吳青,胡亞卓;我國漢族人骨鈣素基因多態(tài)性和骨質(zhì)疏松關(guān)系的初步研究[J];中國骨質(zhì)疏松雜志;2002年04期

5 劉建民,朱漢民,宋懷東,朱曉穎,許曼音,陳家倫;上海地區(qū)絕經(jīng)后婦女Ⅰ型膠原α1基因多態(tài)性與骨密度無關(guān)[J];中華內(nèi)分泌代謝雜志;2001年04期

6 劉建民,朱漢民,陸林,朱曉穎,趙列賓,許曼音,陳家倫;IL-6基因多態(tài)性和其他因素對絕經(jīng)后婦女骨密度的影響[J];中華內(nèi)分泌代謝雜志;2002年02期

7 梁偉,修玲玲,梁奕銓,余斌杰;維生素D受體基因多態(tài)性與骨質(zhì)疏松癥[J];中山醫(yī)科大學(xué)學(xué)報;2002年01期

，

本文編號：1529710