染色体畸变(结构改变).pptVIP

Chromosomal Abnormalities (染色体畸变) Introduction Cytogenetics (细胞遗传学) is the field of study involving examination of the genetic material of the cells. The genetic material (DNA) is contained in chromosomes. Each organism has a characteristic number and arrangement of chromosomes. A karyotype （核型） is a photograph of the chromosomes at metaphase, when they are most easily seen. In a karyotype, the chromosomes are arranged by pairs: alterations in chromosome size (structure) or number are seen here. Normal Human Karyotype Chromosomal Abnormalities Chromosomal abnormalities can be of two types. (1) Structural(结构) abnormalities are caused by breaks in the chromosome being incorrectly repaired. “Ends” of broken chromosomes are very unstable in a cell. (2) Numerical(数目) abnormalities are caused by gain or loss of chromosomes. Common Structural Abnormalities (1) Deletions (缺失)：loss of genetic material (2) Inversions (倒位): no change in the amount of genetic material Common Structural Abnormalities (3) Duplications(重复): gain of genetic material (4) Translocation(易位): no change in the amount of genetic material (if balanced) (一) Deletions ①顶端缺失(Terminal Deletions )：指缺失的区段位于染色体某臂的外端。 ②中间缺失(Interstitial Deletions )：指缺失的区段位于染色体某臂的中间。 缺失的细胞学鉴定 (1)无着丝粒断片：最初发生缺失的细胞在分裂时可见落后染色体——无着丝粒断片， (2)顶端缺失 有丝分裂出现因断裂—融合→双着丝粒染色体——后期染色体桥。 减数分裂联会时，有未配对的游离区段。 (3)中间缺失 减数分裂染色体联会时形成缺失环。 注意：较小的缺失往往并不表现出明显的细胞学特征；缺失纯合体减数分裂过程也无明显的细胞学特征。 缺失的细胞学特征 断裂(breakage)—融合(fusion)—桥(bridge) 玉米缺失杂合体粗线期缺失环 果蝇唾腺染色体的缺失环 缺失的遗传学效应 缺失杂合体的假显性现象 Micro Deletions（教材下册p8 ） Some genetic syndromes are caused by very small deletions in the chromosome in human. These syndromes have been useful in locating genes involved in specific processes. “Cri du Chat” (cry of the cat) is caused by a small deletion at the tip of chromosome 5 in human. (二)Duplication的细胞学特征 重复的遗传学效应 果蝇复眼的小眼组成数目的剂量效应 （三）Inversion (1)臂内倒位(Paracentric inversion)：指倒位发生在染色体的某一臂内，又称为一侧倒位。 (2)臂间倒位(Pericentic inversion)：指倒位发生在两