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(diǎn)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(diǎn)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(diǎn)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

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本文編號：1529710