Terms of Medical Genetics
1、Genome基因组: The complete DNA quence, containing the entire genetic information, of a gamete, an individual, a population, or a species.
完整的DNA序列，包含整个配子，个人，人口，或一个物种的遗传信息。
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Genomics基因组学: The field of genetics concerned with structural and functional studies of the genome.
遗传学领域有关的基因组结构和功能研究。
3.Exon外显子: Encoding quences, corresponding to the quence of mRNA.
编码序列，相应的mRNA序列。
4.Intron内含子: Non-encoding quences, corresponding RNA quence will be removed from mRNA.
非编码序列，对应的RNA序列，将被删除从mRNA 。
5.Allele等位基因: One of the different forms of a gene pair. At each autosomal locus an individual possd two alleles, one inherited from mum and one from dad.
其中一个基因对不同形式。在每一个常染色体基因座个人拥有两个等位基因，从母亲继承的爸爸。
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1.Genotype基因型: The combination of alleles that an individual posss.
个人拥有的等位基因的组合。
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5.Phenotype表现型: The physical characteristics of a cell or organism as defined by its genetic constitution.
一个细胞或有机体的物理特性所界定的遗传体质。
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15.Houkeeping gene管家基因: Genes which express proteins common to all cells, e.g. Ribosomal, chromosomal and cytoskeletal proteins.
共同所有细胞，如蛋白质的基因表达核糖体，染色体和细胞骨架蛋白。
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18.Luxury gene奢侈基因: are tho coding for specialized functions synthesized (usually) in large amounts in particular cell types.
是那些专门的合成功能，在特定的细胞类型中大量（通常）编码。
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21.OMIM: Online access to McKusick’s catalogue, Online Mendelian Inheritance in Man, an invaluable resource for clinical genetic information with a wealth of links to many other resources.
在线访问的McKusick的目录，在线孟德尔遗传，与许多其他资源的链接的财富，为临床遗传信息的一个宝贵的资源。
11.Split genes分裂基因: Structural genes in eukaryote are split genes with two kinds of quences, although it is continuous in prokaryote.
真核生物的结构基因分为两种序列的基因，虽然它是连续的，在原核生物。
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22.Sen strand有意义链: Strand of genomic DNA to which the mRNA is identical. Untranscribed strand of the gene (5’to 3’) is called as “coding” or “n” for the corresponding codes in RNA.
mRNA序列基因组DNA是相同的。 Untranscribed链的基因（ 5'to 3 ）被称为“编码”或RNA的相应代码为“意义” 。
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25.Antin strand反义链: The template strand of DNA. The transcribed strand of the gene is in a 3’to 5’ direction is referred as non-coding or antin.
DNA模板链。该基因的转录链在3'to 5'方向是被称为非编码或反义。
14.Euchromatin常染色质: Slightly and evenly stained, non- or low-repetitive DNA regions. The major component of chromatin.
稍微均匀染色，非或低重复DNA区域。染色质的主要组成部分。
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26.Heterochromatin异染色质: Darkly and unevenly stained, highly repetitive DNA regions.
黑暗和不公平的染色，高度重复的DNA区域。
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29.Karyotype染色体组型: The number, size and shape of the chromosomes of an individual. Also ud for the photomicrograph of an individual’s chromosomes arranged in a standard manner.
个体的染色体数目，大小和形状。也用于在一个标准的方式安排一个人的染色体显微照片。
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30.Robertsonian Translocation罗伯逊易位: Two acrocentric chromosomes fu near the centromere region with loss of the short arms, which carry multiple copies of genes for rRNA.
保险丝两个acrocentric染色体着丝点附近的短臂的损失，进行rRNA的基因的多个副本地区。
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45.Proband先证者: The family member who first bring a family to the attention of an investigator is proband.
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先证者的家庭成员，他们首先把一个家庭，以一个研究者的关注。
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63.Genetic Heterogeneity遗传异质性: The phenomenon that a disorder can be caud by different allelic or non-allelic mutations.
可以通过不同的等位基因非等位基因突变引起的混乱现象。
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73.Expressivity表现度: Variation in the verity of the phenotypic features of a particular gene.
变化中的一个特定基因的表型特征的严格性。
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74.Penetrance外显率: The proportion of heterozygotes for a dominant gene who express a trait, even if mildly.
杂合子的比例为显性基因表达一个特点，即使轻度的。
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90.Sex-limitation限性: When a trait is only manifest in individuals of one x.
当一个特点是只在某一性别的人的清单。
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94.Sex-influence偏性: When a genetic trait is expresd more frequently in one x than another.
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当一个遗传性状表达比另一个更频繁地在某一性别。
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118.genetic imprinting遗传印记: The phenomenon of a gene or region of a chromosome showing different expression depending on the parent of origin.
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一个基因或染色体区域显示不同的表达方式取决于父母的来源的现象。
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120.Anticipation遗传早现: The tendency for some AD dias to manifest at an earlier age and/or to increa in verity with each succeeding generation.
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在较早的年龄和/或严重程度的增加，每一代的倾向，对一些AD疾病清单。
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123.Genetic Susceptibility遗传易感性: An inherited predisposition to a dia or disorder which is not due to a single-gene cau and is usually the result of a complex interaction of the effects of multiple different genes, i.e. polygenic inheritance.
