遗传前半部分总结(英文班).docVIP

第一章绪论 ※名词解释 医学遗传学 Medical genetics is the specialty of medicine that involves the diagnosis and management of hereditary disorders. 遗传学 Genetics is concerned with variation and heredity in all living organisms* 3? 人类遗传学 Human genetics is the science of variation and heredity in humans. 细胞遗传学 Cytogenetics^ the study of chromosomes 基因组学 Genomics- the study of genome, its organization and functions. 群体遗传学 Population genetics? genetic variation in human populations and factors that affect allele frequencies. 临床遗传学 Clinical genetics- application of genetics to diagnosis and patient care. 遗传咨询 Genetic counseling- risk information, psychological and educational support to patients and/or their families. 9? 基因座 Locus ? a chromosomal location. 10 等位基因 Alleles ? alternative forms of the same locus. 突变 Mutation ? a change in the genetic material, usually rare and pathological^ 多态性 Polymorphism ? a change in the genetic material， usually common and not necessarily pathological. 基因型 Genotype: An individual，s genetic makeup ? forms of a particular gene at a given locus* 表现型 Phenotype: The observable expression of a genotype. 纯合子 Homozygote ? an organism with two identical alleles. 杂合子 Heterozygote ? an organism with two different alleles. 半合子 Hemizygote - having only one copy of a geneMales are hemizygous for most genes on the sex chromosomes. 显性性状 Dominant trait ? a trait that shows in a heterozygote 隐性性状 Recessive trait ? a trait that is hidden in a heterozygote. 二、填空或选择 K A genetic disease or disorder is the result of changes, or mutations, in an individual s DNA? Many genetic diseases are multifactorial—they are caused by mutations in several genes compounded by environmental factors. Genetic diseases can be inherited because they are mutations in the germ cells 生殖细胞 of the body—the cells involved in passing genetic information from parents to offspring Genetic diseases can also result from changes in DNA in somatic cells 体细胞，or cells in the body that are not germ cells. 三、简答