染色体结构变异 缺失重复倒位易位 怎么区分

2025年04月06日 18:01
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  染色体结构变异 缺失重复倒位易位 怎么区分
  1,缺失 有中间缺失和末端缺失两种类型。末端缺失染色体很不稳定,故少见。中间缺失染色体比较稳定,因此常见的是中间缺失。体细胞内某对染色体中一条有缺失、另一条正常的个体,称为缺失杂合体或杂缺失体;具有相同缺失区段的一对染色体的个体,称为缺失纯合体或纯缺失体。 杂缺失体在减数分裂偶线期同源染色体联会时,会形成缺失环,缺失环在粗线期最明显。
  2,重复 有顺接重复和反接重复两大类。重复杂合体在粗线期形成特征性的重复环。
  3,倒位 有臂内倒位和臂间倒位两种。臂内倒位的倒位区段不含着丝粒区域,臂间倒位的倒位区段内含着丝粒区域。 倒位杂合体在粗线期出现倒位环的联会图象。臂内倒位杂合体除在粗线期观察到倒位环外,在后期I还可观察到后期桥和染色体断片。倒位环不同于缺失环和重复环,前者是由两条染色体形成,而后两者是由单一染色体形成。
  4,易位 有简单易位和相互易位两类,常见的是相互易位。 相互易位杂合体在粗线期形成“+”字形联会构象,在终变期因交叉端化而形成四体环或∞字形环或四体链的构象(一直可维持到中期I)。 相互易位杂合体在后期I有邻近式和交替式两种分离方式。

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