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11号和22号染色体之间常见相互易位中断点的精确位置。

Precise location of breakpoints in a frequent reciprocal translocation between chromosomes 11 and 22.

作者信息

Babu K A, Verma R S, Nigam R B, Alsheikh S N

出版信息

J Hered. 1986 Jan-Feb;77(1):63-4. doi: 10.1093/oxfordjournals.jhered.a110175.

Abstract

One of the most frequent chromosomal translocations in human beings is 11q/22q, which results in the "partial trisomy of 22q syndrome." However, the breakpoint on the long arms of chromosomes 11 and 22 is still a matter of controversy. In the present study, we have used chromosomes from lymphocytes of a neonate who happened to have this classical abnormality, and by R-banding prometaphase chromosomes with acridine orange it has been possible to establish that the translocation between chromosomes 11 and 22 resulted from 3:1 meiotic maternal nondisjunction. A detailed analysis of the chromosome regions involved in this translocation revealed that the breakpoints on chromosomes 11 and 22 were at 11q23.3 and 22q11.1, respectively.

摘要

人类中最常见的染色体易位之一是11q/22q,它会导致“22q综合征部分三体”。然而,11号和22号染色体长臂上的断点仍是一个有争议的问题。在本研究中,我们使用了一名恰好患有这种典型异常的新生儿淋巴细胞中的染色体,通过用吖啶橙对前中期染色体进行R显带,得以确定11号和22号染色体之间的易位是由减数分裂时母亲的3:1不分离造成的。对该易位所涉及染色体区域的详细分析表明,11号和22号染色体上的断点分别位于11q23.3和22q11.1。

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