中国壮族家系指间区纹候选基因的连锁分析
发布时间：2018-12-15 05:18
【摘要】：背景: 皮肤纹理简称“肤纹”,包含指纹、掌纹、足纹等,是灵长目动物特有的、外露的生物学特征。其中,指间区纹是肤纹中最具代表性的部分。肤纹的科学研究开始于1823年Pukinje对肤纹的系统分类。现在,肤纹与某些遗传病的相关性已被普遍认可。但肤纹遗传的具体方式仍然令学者们疑惑。肤纹的花纹大小,走向和形状的遗传研究往往产生相互矛盾的结论。从1920年到1965年,各国学者作了大量研究,对个体特征的遗传提出了各种各样的说法,但肤纹的遗传模型仍然没能建立起来。目前普遍接受的观点是肤纹符合多基因遗传,每个基因都起一点小小作用,许多基因共同决定了肤纹的形态。 肤纹中最具典型意义的部分——指间区纹是与手指相连的手掌部分的花纹。拇指与食指间的掌区称指间I区,其他各指间掌区依次称为指间II、III、IV区。不同区以不同嵴线走向交界处形成的三叉点为分界线,在各指间区上会出现不同走向的弓纹、箕纹、斗纹等形形色色的花纹,在各物种间差异很大,人类个体间差异也很大。指间区纹比其它肤纹变化更多样,却比指纹等观察分析相对简单。由于这一独特性质,使它特别合适作为肤纹的模式型,为肤纹的各项研究提供突破口。指间区纹又是左右不对称的性状,它的遗传模型的建立也为其它左右不对称性状的遗传研究提供了启示。 目的: 为了建立指间区纹在遗传过程的遗传模型,本研究通过研究家系成员SHFM1基因的五个位点的SNPs与指间区纹形态的连锁分析,拟探讨指间区纹的候选基因。 方法: 1、在被研究者的指根部掌面抹上石墨粉,用玻璃胶带粘下其肤纹贴于白纸上,得到指间区纹的正模标本。 2、收集口腔粘膜脱落细胞提取基因组DNA,用SnapShot方法获得SHFM1基因上的五个位点(rs4342522 , rs10260320 , rs12704872 ,rs6465533和rs12704870)的SNP信息。 3、应用Linkage等遗传学分析软件分析SNP与指间区纹信息。 结果: 1、按照指间区纹新的分类方法分类,本研究群体中出现频率最高的类型是“2”;而按照旧的分类方法,出现频率最高的指间区纹表型是“仅Ⅳ区有纹”。 2、phase软件计算出频率较高的单倍型结果为:TGGCA、TGGTA、TAATA和TGATT。HaploView软件计算出的单倍型,频率较高的依次为:TGGTA、TGGCA、TGATA、TGACA。 3、经过Linkage软件和Genehunter软件的有参连锁分析发现,LOD值都为趋近于0的数值,说明这些位点间不存在连锁关系。另外,LOD值都有向rs10260320和rs6465533这两个位点外侧升高的趋势,说明与指间区纹相关的基因可能在这两个位点的外侧。 结论:与指间区纹相关的基因可能在rs10260320和rs6465533这两个位点的外侧。
[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，
本文编号：2380052
[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，
本文编号：2380052
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