遗传学资料：遗传学genetic——wxt

1、遗传学genetic1. Gene(基因)：a DNA fragment coding for a functional peptide/protein or a RNA.2. Genotype（基因型）: The combination of alleles that an individual possesses.3. Phenotype（表现型）: The physical characteristics of a cell or organism as defined by its genetic constitution.4. Allele(等位基因): One of the var

2、iant forms of a gene at a particular locus, or location, on a cs. Different alleles produce variation in inherited characteristics such as hair color or blood type.5. Pedigree（家谱）: A simplified diagram of a familys genealogy that shows family members relationships to each other and how a particular

3、trait or disease has been inherited. 6. Proband（先证者）: The family member who first bring a family to the attention of an investigator is proband.7. Single-gene disordor：is one that is determined primarily by the alleles at a single locus. 8. Genome基因组: The complete DNA sequence, containing the entire

4、 genetic information, of a gamete配子, an individual, a population种群, or a species. 9. Genomics基因组学: The field of genetics concerned with structural and functional studies of the genome.10. Exon外显子: Encoding编码 sequences, corresponding to the sequence of mRNA. 11. Intron内含子: Non-encoding sequences, cor

5、responding RNA sequence will be removed from mRNA.12. Housekeeping gene管家基因: Genes which express proteins common to all cells, e.g. Ribosomal, chromosomal染色体 and cytoskeletal proteins. 13. Luxury gene奢侈基因: are those coding for specialized functions synthesized (usually) in large amounts in particula

6、r cell types. 14. OMIM: Online access to McKusicks catalogue, Online Mendelian Inheritance孟德尔遗传 in Man, an invaluable resource for clinical genetic information with a wealth of links to many other resources. 15. Genetic Susceptibility（遗传易感性）：An inherited predisposition to a disease or disorder which

7、 is not due to a single-gene cause and is usually the result of a complex interaction of the effects of multiple different genes, i.e. polygenic inheritance.16. Trait(性状): Any detectable phenotypic property or character.17. Qualitative trait（质量性状）: A genetic disease trait that either present or abse

8、nt. The pattern of inheritance for a qualitative trait is typically monogenetic, which means that the trait is only influenced by a single gene.18. Quantitative trait（数量性状）: are measurable characteristics such as height, blood pressure, serum cholesterol, and body mass index. A quantitative trait sh

9、ows continued variation under the influence of many different genes.19. Liability（易患性）：A concept used in disorders which are multifactorially determined to take into account all possible causative factors.20. Familial aggregation(家庭聚集性)：Affected individuals tend to cluster in families.21. Correlatio

10、n（相对性）：Correlation is a statistical measure of the degree of association of variable phenomena (a measure of the degree of resemblance or relationship between 2 parameters).22. Split genes分裂基因: Structural genes in eukaryote真核生物 are split genes with two kinds of sequences, although it is continuous i

11、n prokaryote原核生物. 23. Sense strand有意义链: Strand of genomic DNA to which the mRNA is identical. Untranscribed strand of the gene (5to 3) is called as “coding” or “sense” for the corresponding codes in RNA. 24. Antisense strand反义链: The template strand of DNA. The transcribed strand of the gene is in a

12、3to 5 direction is referred as non-coding or antisense.25. Euchromatin常染色质: Slightly and evenly stained, non- or low-repetitive DNA regions. The major component of chromatin.26. Heterochromatin异染色质: Darkly and unevenly stained, highly repetitive高度重复 DNA regions.27. Karyotype染色体组型: The number, size a

13、nd shape of the chromosomes同源染色体 of an individual. Also used for the photomicrograph of an individuals chromosomes arranged in a standard manner.28. Robertsonian Translocation罗伯逊易位: Two acrocentric chromosomes近端点着丝粒染色体 fuse near the centromere region with loss of the short arms, which carry multiple

14、 copies of genes for rRNA.29. Genetic Heterogeneity遗传异质性: The phenomenon that a disorder can be caused by different allelic or non-allelic mutations.30. Expressivity表现度: Variation in the severity of the phenotypic features of a particular gene.31. Penetrance外显率: The proportion of heterozygotes杂合子 fo

15、r a dominant gene显性基因 who express a trait, even if mildly.32. Sex-limitation限性: When a trait is only manifest in individuals of one sex.33. Sex-influence偏性: When a genetic trait is expressed more frequently in one sex than another.34. genetic imprinting遗传印记: The phenomenon of a gene or region of a c

16、hromosome showing different expression depending on the parent of origin.35. Anticipation遗传早现: The tendency for some AD diseases to manifest at an earlier age and/or to increase in severity with each succeeding generation.36. Genetic Susceptibility遗传易感性: An inherited predisposition to a disease or d

17、isorder which is not due to a single-gene cause and is usually the result of a complex interaction of the effects of multiple different genes, i.e. polygenic inheritance.37. Liability易患性: A concept used in disorders which are multifactorially determined to take into account all possible causative fa

18、ctors38. Hardy-Weinberg equilibrium遗传平衡定律：it implies that gene and genotype frequencies are constant from generation to generation. H-W law rests on several assumptions: large population, random mating随机交配, no mutations, no migration between populations, no selection - all genotypes reproduce with e

19、qual success.39. Gene pool基因库: the genetic constitution of a population of a given organism. All the genes of all the individuals in population make up the gene pool.40. Genetic Drift遗传漂变: Fluctuation in allele frequency due to chance in a small population.41. Heterozygote Advantage杂种优势: Mutant alle

20、le突变体等位基因 has a high frequency despite reduced fitness in affected individuals.42. Homoplasmy同质性: The presence of only one type of mtDNA in the mitochondria of a single individual.43. Heteroplasmy异质性: The presence of more than one type of mtDNA in the mitochondria of a single individual.44. Molecula

21、r Disease分子病: A disease in which there is an abnormality in or a deficiency of a particular molecule, such as hemoglobin in sickle cell anemia.45. Gene cluster基因簇: A group of adjacent genes which are identical or related.46. Pseudogene假基因: DNA sequence homologous with a known gene but is non-functio

22、nal.47. Inborn Error of Metabolism先天代谢错误: Any of a group of congenital disorders caused by an inherited defect in a single specific enzyme that results in a disruption or abnormality in a specific metabolic pathway.48. Haplotype单倍体: A group of alleles in coupling at closely linked loci, usually inherited as a unit.49. Pharma