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遗传名解
Gene: a DNA sequence required for production of a functional product, usually a protein, but rarely, an untranslated RNA. Genetics: is a diverse subject concerned with variation and heredity of all living organisms.
Genetic disorders: caused by the changes of inherited material.
Human genetics: is a science of variation and heredity in human beings.
Medical genetics: is the subset of human genetic variation that is of significance in the practice of medicine in the medical research.
Genetic map: also called linkage map, the relative position and genetic distance between the genes or DNA marker on chromosome.
Chromosome set: all chromosomes contained in a germ cell of an individual.
Chromosome disorder: caused by chromosome abnormalities, structural and/or numerical, actually an excess of deficiency of gene.
Single-gene disorders: only one locus responsible for the occurrence of disorder.
Multifactorial disorders: combination of the action of genes and environment, two or more loci involved. It has familial aggregation and no characteristic pedigree patterns.
Somatic cell genetic disorders: cancer mainly, mutation of somatic cell, won’t pass to the offspring, very common now.
Mutation: is defined as any change in the nucleotide sequence or arrangement of DNA. Endomitosis: chromosomal replication of without nuclear or cellular division, which results in cells with many copies of same chromosome.
Endoreduplication: repeated replication of DNA during S phase in the cell cycle, without results in cells with many copies of same chromosome.
Balanced structure rearrangement: If the chromosome set has normal complement of chromosome material. Unbalanced structure rearrangement: If there is additional or missing material in the chromosome set.
Ring chromosomes: are formed when a chromosome undergoes two breaks and the broken ends of the chromosome reunite in a ring structure.
Isochromosome: a chromosome in which one arm lost and the other duplicated in the mirror-image fashio
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