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之前通过原位杂交定位到人类1号染色体1p36区域的匿名多态性DNA克隆D1S1,实际来自3号染色体,且在1号染色体上存在重复。

The anonymous polymorphic DNA clone D1S1, previously mapped to human chromosome 1p36 by in situ hybridization, is from chromosome 3 and is duplicated on chromosome 1.

作者信息

Goode M E, vanTuinen P, Ledbetter D H, Daiger S P

出版信息

Am J Hum Genet. 1986 Apr;38(4):437-46.

Abstract

D1S1, a human anonymous DNA clone originally called lambda Ch4A-H3 or lambda H3, was mapped by two other laboratories to human chromosome 1p36 by in situ hybridization but its localization was not confirmed using a different mapping method. We used a panel of human-hamster somatic cell hybrids to show that there are copies of D1S1 on both chromosomes 1 and 3. The D1S1 clone itself is from chromosome 3, and part of it is duplicated at least twice on chromosome 1. A high frequency HindIII polymorphism detected by D1S1, believed to be at chromosome 1p36 on the basis of the in situ hybridization data, maps instead to chromosome 3. This finding demonstrates the importance of using two mapping methods to verify the localization of a gene or DNA segment, particularly a polymorphic one which itself may be used in mapping studies. It also raises the question of why in situ hybridization detected a duplicated portion of a clone but not the chromosomal origin of the clone itself.

摘要

D1S1是一个最初被称为λCh4A - H3或λH3的人类匿名DNA克隆,另外两个实验室通过原位杂交将其定位到人类1号染色体的1p36区域,但未使用不同的定位方法对其定位进行确认。我们使用一组人 - 仓鼠体细胞杂种来表明,在1号和3号染色体上都存在D1S1的拷贝。D1S1克隆本身来自3号染色体,并且其一部分在1号染色体上至少重复了两次。D1S1检测到的一种高频HindIII多态性,根据原位杂交数据被认为位于1号染色体的1p36区域,而实际上却位于3号染色体上。这一发现证明了使用两种定位方法来验证基因或DNA片段定位的重要性,特别是对于本身可能用于定位研究的多态性片段。这也提出了一个问题,即为什么原位杂交检测到了克隆的重复部分,却没有检测到克隆本身的染色体来源。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/46d5/1684800/3dc6595babca/ajhg00153-0037-a.jpg

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