发布时间 : 星期二 文章遗传前半部分总结（英文班）更新完毕开始阅读
第一章 绪论
一、 ※名词解释
1. 医学遗传学Medical genetics is the specialty of medicine that involves the diagnosis and
management of hereditary disorders.
2. 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. 4. 细胞遗传学Cytogenetics: the study of chromosomes.
5. 基因组学Genomics- the study of genome, its organization and functions.
6. 群体遗传学Population genetics- genetic variation in human populations and factors
that affect allele frequencies.
7. 临床遗传学Clinical genetics- application of genetics to diagnosis and patient care.
8. 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.
11. 突变Mutation - a change in the genetic material, usually rare and pathological..
12. 多态性Polymorphism - a change in the genetic material, usually common and not
necessarily pathological.
13. 基因型Genotype: An individual’s genetic makeup - forms of a particular gene at a
given locus.
14. 表现型Phenotype: The observable expression of a genotype. 15. 纯合子Homozygote - an organism with two identical alleles. 16. 杂合子Heterozygote - an organism with two different alleles.
17. 半合子Hemizygote - having only one copy of a gene.Males are hemizygous for most
genes on the sex chromosomes.
18. 显性性状Dominant trait - a trait that shows in a heterozygote. 19. 隐性性状Recessive trait - a trait that is hidden in a heterozygote.
二、 填空或选择
1、A genetic disease or disorder is the result of changes, or mutations, in an individual’s DNA.
2、Many genetic diseases are multifactorial—they are caused by mutations in several genes compounded by environmental factors.
3、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. 4、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
Major types of genetic disease
1、Single gene disorders- Osteogenesis imperfecta成骨不全症 - autosomal dominant - Sickle cell anemia镰状细胞性贫血 - autosomal recessive - Haemophilia 血友病 - X-linked
2、Chromosomal disorders-Classic example is trisomy 21 - Down syndrome
3、Multifactorial/Polygenic disorders ，Complex/Common diseases
-Type I and type II diabetes, autism孤独症, multiple sclerosis多发硬化症
第二章 人类基因
一名词解释 1、基因A gene is the basic unit of heredity in a living organism. All living things depend on genes. Genes hold the information to build and maintain an organism's cells and pass genetic traits to offspring.
2基因组 Genome is the entirety of an organism‘s hereditary information, and includes both the genes and the non-coding sequences of the DNA. 二、填空或选择
1、Eukaryotic Gene Structure is split gene.
2、human genome: Nuclear genome (核基因组) Mitochondrial genome（线粒体基因组） 3、人类基因组按DNA序列分类： （一）单拷贝序列 800~1000bp （二）重复多拷贝序列
1、简单序列
? 小卫星DNA： Minisatellite DNA(Also referred as VNTR) is a section of DNA that consists of a short series of bases 10-60 bp. 微卫星DNA： Microsatellites, also known as Simple Sequence Repeats (SSRs) or short tandem repeats (STRs), are repeating sequences of 1-6 base pairs of DNA.
2、中度重复DNA和可移动DNA因子
三、简答
1、Gene classification
? solitary gene （单一基因）
gene with a unique sequence, that occurs once in a haploid set of chromosomes.
? gene family （基因家族）
a group of genes that share a similar sequence of DNA and share important characteristics.
? pseudogene （假基因）
dysfunctional relatives of known genes that have lost their protein-coding ability or are no longer expressed in the cell.
? tandemly repeatd sequence (串联重复基因） a pattern of two or more nucleotides is repeated
第三章 基因突变
1、mutations are changes in a genomic sequence: the DNA sequence of a cell‘s genome or the DNA or RNA sequence of a virus.
? May occur in somatic cells (aren’t passed to offspring)
? May occur in gametes配子 (eggs & sperm) and be passed to offspring 2、Mutagens诱变剂or mutagenic agents
物理因素：ultraviolet light 紫外光,x-rays,cosmic宇宙的energy,gamma radiation,aipha particles,beta particlesβ粒子andneutrons中子
化学因素：nitrous acid 亚硝酸,hydroxylamine羟胺,ethyl乙基,methanesulfonate甲磺酸酯 生物因素：病毒，细菌与真菌 *3、mechanism of mutation
一、Static mutation 静态突变 （一）point mutation 点突变 1、base substitution碱基替换
Transition转换：purine嘌呤changes to an alternate purine;pyrimidine嘧啶changes to an alternate pyrimidine.一种嘌呤碱或相应的嘌呤-嘧啶碱基被另外一种嘌呤碱或相应的嘌呤—嘧啶碱基对所取代。
Tansversions 颠换：a position with a pyrimidine change to have a purine;or,purine to pyrimidine.某种嘌呤碱或相应的嘌呤-嘧啶碱基被另外一种嘧啶或其相应的嘧啶-嘌呤碱基对所置换。
① 同义突变same sense mutation: a single DNA base substitution resulting in no
alternate oe amino acid. ② 无意突变non-sense mutation: a single DNA base substitution碱基替换，resulting
in a stop codon. ③ 终止密码突变terminator condon mutation:when a single base substitution
causes the substitution of a stop condon for an amino acid condon. ④ 错义突变missense mutation: when s single base substitution causes the
substitution of one amino acid for another.
2、移码突变frame-shift mutation:是一种由于基因组DNA多核苷酸链中碱基对的插入或缺失，以致自插入或缺失点之后部分的或所有的三联体遗传密码子组合发生改变的基因突变形式。
（二）片段突变：缺失，重复，重排
二、Dynamic mutation 动态突变:the term‘dynamic mutation’was introduced to distinguish.the unique properties of expanding,unstable DNA repeate sequences from
other forms of mutation.
第五章 单基因疾病的遗传
1、单基因遗传病（single-gene disorder,monogenic disorder）：指由一对等位基因控制而发生的遗传性疾病，它们的传递方式遵循孟德尔定律。 单基因遗传病分类（categories of inheritance）：①autosomal recessive常染色体隐性(AR)
②autosomal dominant 常染色体显性(AD) ③X-linked recessive X伴显性(XD) ④X-linked dominant X连锁隐性(XR) ⑤Y-linked Y连锁
2、Pedigrees系谱 图见书47页，注意一些不常见的英文
（结婚mating， 近亲结婚 consanguineous mating，先证者proband） 一、Autosomal dominant inheritance,AD 1、genotype: affected:AA,Aa 2、代表疾病：Huntington disease，HD：is a neurodegenerative神经变性的 genetic disorder that
affects muscle coordination and leads to cognitive decline认知下降 and dementia痴呆.
Marfan syndrome：Connective Tissue 结缔组织Disorder Affects FBN-1 Gene of
Chromosome 15
※3、常染色体完全显性遗传的特征： Hallmarks of autosomal dominant inheritance ? Affects both sexes equally;
? Affected have at least one affected parent;
? A child of an affected and an unaffected has 50% risk of disease. 二、Autosomal recessive inheritance,AR--------aa
? Phenylketonuria (PKU)苯丙酮尿症absence of enzyme phenylalanine-hydroxylase
(PAH，苯基丙氨酸羟化酶 ) Phe->Tyr酪氨酸increase of plasmatic Phe since birth - rising levels - impairs brain development.after 6M - severe mental retardation智力落后 - IQ under 50.decreased pigmentation色素 of hair and skin - absence of Tyr
? Tay-Sachs disease 黑蒙性白痴neurons and glial cells胶质细胞 of CNS - mental
retardation智力迟钝, blindness ※遗传特征：
? Tend to be limited to a single sibship 血缘关系 ? Not found in multiple generations
? Males and females are affected with equal probability ? Parent’s brother have 1/4 risk of disease ? Parent’s parents always normal or carrier
三、X-linked dominant inheritance
1、genotype：unaffected：XX XY affected:XBX XBXB XBY 2、hypophosphatemic rickets低磷酸盐血症性佝偻病 ? Nutritional phosphate deficiency ? Prematurity 早熟