【摘要】：背景: 皮膚紋理簡(jiǎn)稱“膚紋”,包含指紋、掌紋、足紋等,是靈長(zhǎng)目動(dòng)物特有的、外露的生物學(xué)特征。其中,指間區(qū)紋是膚紋中最具代表性的部分。膚紋的科學(xué)研究開(kāi)始于1823年P(guān)ukinje對(duì)膚紋的系統(tǒng)分類。現(xiàn)在,膚紋與某些遺傳病的相關(guān)性已被普遍認(rèn)可。但膚紋遺傳的具體方式仍然令學(xué)者們疑惑。膚紋的花紋大小,走向和形狀的遺傳研究往往產(chǎn)生相互矛盾的結(jié)論。從1920年到1965年,各國(guó)學(xué)者作了大量研究,對(duì)個(gè)體特征的遺傳提出了各種各樣的說(shuō)法,但膚紋的遺傳模型仍然沒(méi)能建立起來(lái)。目前普遍接受的觀點(diǎn)是膚紋符合多基因遺傳,每個(gè)基因都起一點(diǎn)小小作用,許多基因共同決定了膚紋的形態(tài)。 膚紋中最具典型意義的部分——指間區(qū)紋是與手指相連的手掌部分的花紋。拇指與食指間的掌區(qū)稱指間I區(qū),其他各指間掌區(qū)依次稱為指間II、III、IV區(qū)。不同區(qū)以不同嵴線走向交界處形成的三叉點(diǎn)為分界線,在各指間區(qū)上會(huì)出現(xiàn)不同走向的弓紋、箕紋、斗紋等形形色色的花紋,在各物種間差異很大,人類個(gè)體間差異也很大。指間區(qū)紋比其它膚紋變化更多樣,卻比指紋等觀察分析相對(duì)簡(jiǎn)單。由于這一獨(dú)特性質(zhì),使它特別合適作為膚紋的模式型,為膚紋的各項(xiàng)研究提供突破口。指間區(qū)紋又是左右不對(duì)稱的性狀,它的遺傳模型的建立也為其它左右不對(duì)稱性狀的遺傳研究提供了啟示。 目的: 為了建立指間區(qū)紋在遺傳過(guò)程的遺傳模型,本研究通過(guò)研究家系成員SHFM1基因的五個(gè)位點(diǎn)的SNPs與指間區(qū)紋形態(tài)的連鎖分析,擬探討指間區(qū)紋的候選基因。 方法: 1、在被研究者的指根部掌面抹上石墨粉,用玻璃膠帶粘下其膚紋貼于白紙上,得到指間區(qū)紋的正模標(biāo)本。 2、收集口腔粘膜脫落細(xì)胞提取基因組DNA,用SnapShot方法獲得SHFM1基因上的五個(gè)位點(diǎn)(rs4342522 , rs10260320 , rs12704872 ,rs6465533和rs12704870)的SNP信息。 3、應(yīng)用Linkage等遺傳學(xué)分析軟件分析SNP與指間區(qū)紋信息。 結(jié)果: 1、按照指間區(qū)紋新的分類方法分類,本研究群體中出現(xiàn)頻率最高的類型是“2”;而按照舊的分類方法,出現(xiàn)頻率最高的指間區(qū)紋表型是“僅Ⅳ區(qū)有紋”。 2、phase軟件計(jì)算出頻率較高的單倍型結(jié)果為:TGGCA、TGGTA、TAATA和TGATT。HaploView軟件計(jì)算出的單倍型,頻率較高的依次為:TGGTA、TGGCA、TGATA、TGACA。 3、經(jīng)過(guò)Linkage軟件和Genehunter軟件的有參連鎖分析發(fā)現(xiàn),LOD值都為趨近于0的數(shù)值,說(shuō)明這些位點(diǎn)間不存在連鎖關(guān)系。另外,LOD值都有向rs10260320和rs6465533這兩個(gè)位點(diǎn)外側(cè)升高的趨勢(shì),說(shuō)明與指間區(qū)紋相關(guān)的基因可能在這兩個(gè)位點(diǎn)的外側(cè)。 結(jié)論:與指間區(qū)紋相關(guān)的基因可能在rs10260320和rs6465533這兩個(gè)位點(diǎn)的外側(cè)。
[Abstract]:Background: skin texture is referred to as "dermatoglyphics", including fingerprint, palmprint, foot pattern and so on. It is a unique and exposed biological feature of primates. Among them, interphalangeal area is the most representative part of dermatoglyphics. The scientific study of dermatoglyph began in 1823 with Pukinje's systematic classification of dermatoglyph. The association between dermatoglyphics and certain genetic diseases is now widely accepted. But the exact way in which dermatoglyph is inherited still puzzles scholars. Genetic studies of the size, direction and shape of dermatoglyphic patterns often lead to conflicting conclusions. From 1920 to 1965, scholars all over the world have made a great deal of research and put forward a variety of terms on the heredity of individual characteristics, but the genetic model of dermatoglyphics has still not been established. It is generally accepted that dermatoglyphics are polygenic, and each gene plays a small role, and many genes together determine the shape of the dermatoglyphics. The most typical part of a dermatoglyph, the interdigital area, is the pattern of the palm of the hand connected to the finger. The palmar region between thumb and index finger is called interdigital I region, and the other interdigital palmar regions are called interdigital II,III,IV region in turn. In different regions, the tripod points formed at the junction of different crest lines are the dividing lines, and there will be different patterns of arch, dustpan and fighting patterns in the interphalangeal areas. There are great differences among species as well as among human individuals. The interphalangeal pattern is more varied than other dermatoglyphics, but simpler than the observation and analysis such as fingerprint. Because of this unique property, it is especially suitable for the model of dermatoglyph and provides a breakthrough for the research of dermatoglyphic. The establishment of genetic model of interdigital stripe is also an asymmetric trait, which provides inspiration for other genetic studies of left and right asymmetrical traits. Aim: to establish a genetic model of interdigital stripes in genetic process, this study studied the linkage analysis between SNPs and interdigital pattern at five loci of SHFM1 gene in a family member, in order to explore candidate genes for interdigital stripes. Methods: 1. Graphite powder was applied on the palm of the finger root of the researcher, and the skin lines of the finger were glued on white paper with glass tape, and the positive pattern specimen of the interdigital stripe was obtained. 2Genomic DNA, extracted from exfoliated cells of oral mucosa was collected to obtain SNP information of five loci (rs4342522, rs10260320, rs12704872, rs6465533 and rs12704870) of SHFM1 gene by SnapShot method. 3. Genetic analysis software, such as Linkage, was used to analyze the pattern information between SNP and interdigital area. Results: 1. According to the new classification method of interdigital stripe, the most frequent type was "2" in this study population, but according to the old classification method, the most frequent phenotype of interdigital stripe was "only 鈪，

本文編號(hào)：2380052