临床遗传学-绪论(课堂版).ppt

Classic genetic disorders 1. Mutation is transmitted from the germ cells of parents or occurred in the early stage of fertilized oocyte. 2. Mutation exists in the whole tissues of the body and remains for the whole life time of the individual. 3. Mutation will transmitted to the next generation. Chromosomal, monogenic, polygenic disorders (1)染色体病 ? Duplication or deletion of the certain chromosomes or the certain chromosomal segments Number abnormality Structure abnormality 0.6 % in liveborn and 50% in spontaneous abortions in first-trimester in microscopic observation 1．染色体数目异常 (Heteroploidy, 异倍体) A chromosome complement with chromosome number other than 46 整倍体异常: A chromosome complement with an exact multiple of the haploid chromosome number 非正倍体: A chromosome complement with chromosome number other than an multiple of the haploid chromosome number Autosome: only trisomy 21, 18 and 13 found in live-birth, no monosomy Sex chromosome in livebirth: XO, XXX, XXY, XYY, XXXX, XXXXX X chromosome inactivation mechanism (mechanism) Resulted from chromosome breakage and reunion. Unbalanced structural abnormality 不平衡染色体结构异常 With loss or gain of chromosomal material Deletion, duplication, insertion, isochromosome and ring chromosome 2．染色体结构异常 Structural Abnormalities Chromosome disorders Numerical + unbalanced chromosomal abnormalities Involving the chromosome or chromosomal segment deletion or duplication Resulting in the changes of a groups of genes Leading complicated symptom, Syndrome: Featured by serious mental retardation, structural abnormality of face, body and multiple organs Balanced structural abnormality平衡染色体结构异常 Inversion (inv, 倒位）, reciprocal translocation (t, 相互易位 ), Robertsonian translocation (rob,罗伯逊易位) Without loss or gain of chromosomal materials Usually phenotypic normal Repeated abortion, intrauterous fetal death, stillbirth and birth defects due to the abnormal segregation of involved chromosomes in meiosis Single gene def