本文選題：骨密度(BMD) + 侯選基因��； 參考：《湖南師范大學(xué)》2005年碩士論文

【摘要】：骨質(zhì)疏松癥(Osteoporosis)是一種發(fā)病率高且危害嚴(yán)重的骨骼系統(tǒng)相關(guān)的復(fù)雜疾病,低骨密度(Bone mineral density,BMD)是其重要的風(fēng)險(xiǎn)因子。大量的研究表明BMD的變異受到很強(qiáng)的遺傳影響。成人身高作為一個(gè)重要的身體發(fā)育參數(shù)指標(biāo),已經(jīng)在很多人群中展開(kāi)了研究。身高的遺傳率一般大于50%,是較高遺傳率的人類(lèi)復(fù)雜性狀之一。身高、體重、BMD和骨大小均受到遺傳因子、環(huán)境因子以及它們之間相互作用的影響。在人群的骨表型關(guān)聯(lián)研究中通常采用身高和體重去校正作為表型。然而,目前還不清楚這些人體測(cè)量指標(biāo)和骨表型在多大程度上共享遺傳因子和環(huán)境因子。本研究的主要目的是:1)采用數(shù)量傳遞不平衡檢測(cè)(quantitative transmissiondisequilibrium test,QTDT)法,對(duì)157個(gè)白種核心家庭的665個(gè)樣本,進(jìn)行雌激素受體α(estrogen receptor α,ER-α)基因(包括PvuⅡ和XbaI)、α2巰基糖蛋白(alpha2-HS glycoprotein,AHSG)基因(包括NlaⅢ和SacI)、和轉(zhuǎn)化生長(zhǎng)因子β1(transforming growth factor beta 1,TGF-β1)基因(包括單個(gè)的分子標(biāo)記和由每個(gè)基因內(nèi)的分子標(biāo)記構(gòu)建的單體型)與腰椎和整個(gè)髖部的關(guān)聯(lián)和連鎖分析;2)在79個(gè)白種擴(kuò)展家系的1816個(gè)樣本中,采用SOLAR對(duì)身高的兩個(gè)侯選區(qū)域(6q24-25和7q31.3-36)進(jìn)行連鎖排除分析;3)在292個(gè)中國(guó)核心家庭的931個(gè)年齡范圍為19-79歲的樣本中,采用雙變量數(shù)量遺傳分析法對(duì)骨表型(腰椎和整個(gè)髖部的BMD和骨大小)與人體測(cè)量指標(biāo)(身高和體重)的遺傳和環(huán)境相關(guān)性展開(kāi)研究。我們研究的結(jié)果為1)家庭內(nèi)關(guān)聯(lián)存在于腰椎BMD和AHSG基因的NlaⅢ(P=0.036)多態(tài)位點(diǎn)、腰椎BMD和AHSG基因的SacⅠ(P=0.005)多態(tài)位點(diǎn)、髖部BMD和TGF-β1基因的BstuI(P=0.035)多態(tài)位點(diǎn)、腰椎BMD和AHSG基因的單體型NS(P=0.009)和單體型ns(P=0.012)間。陽(yáng)性的家庭內(nèi)關(guān)聯(lián)通過(guò)了1000次的置換檢驗(yàn);2)6q24-25區(qū)域被排除對(duì)身高擁有10%或更大的作用大小(p值0.0005),7q31.3-36被排除對(duì)身高擁有5%或更大的作用大小(p值0.0018);3)體重和腰椎BMD、
[Abstract]:Osteoporosis is a complex disease related to bone system with high incidence and serious damage. Low bone mineral density (BMD) is an important risk factor. A large number of studies have shown that the variation of BMD is strongly influenced by heredity. As an important parameter of body development, adult height has been studied in many people. The heritability of height is generally greater than 50, is one of the higher heritability of human complexity. Height, weight, BMD and bone size were all affected by genetic factors, environmental factors and their interactions. Height and weight are commonly used as phenotypes in bone phenotypic association studies. However, it is not clear to what extent these anthropometric indicators and bone phenotypes share genetic and environmental factors. The main purpose of this study was to use the quantitative transmissiondisequilibrium test (QTDTT) method to measure the disequilibrium of quantity transfer in 665 samples of 157 white nuclear families. The estrogen receptor 偽 -ER- 偽 gene (including PVU 鈪，

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