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克隆染色体转位的断点可以识别AN2位置

M Gessler¹, K O Simola, G A Bruns

¹Genetics Division, Children's Hospital, Boston, MA.

Science (New York, N.Y.)

|June 30, 1989

概括

家族性无血病病例显示染色体11p13转位. 这些遗传变化确切地指出了AN2基因.

科学领域:

遗传学是一个遗传学.
分子生物学分子生物学
人类疾病人类疾病

背景情况:

在11p13的染色体转位与家族性无病症有关.
AN2位点是WAGR复合体的一部分,与威尔姆斯瘤和其他异常有关.
以前的研究发现,在一个具有11p13转位的亲属中存在缺失.

研究的目的:

为了识别和克隆转位断点在第二个亲属与家族的aniridia.
为了确定是否在这个亲属中的11p13位点存在删除.
为了调查AN2基因内转位的确切位置.

主要方法:

利用分子探针从11p13区域中分离转位断点.
进行了菌体限制映射以分析染色体结构.
在不同物种中比较断点序列,以评估保护.

主要成果:

成功识别和克隆了第二种类型的转位断点.
菌体限制映射排除了该类的11p13位点的显著删除.
11号染色体中断点的保存序列表明转位发生在AN2基因内.

结论:

AN2基因通过染色体11p13转位,与家族性无菌病有关.
在第二类的转移不涉及实质性的删除.
该AN2基因是理解aniridia病变的关键目标.

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