Lambert C, Schultz R A, Smith M, Wagner-McPherson C, McDaniel L D, Donlon T, Stanbridge E J, Friedberg E C
Department of Pathology, Stanford University School of Medicine, CA 94305.
Proc Natl Acad Sci U S A. 1991 Jul 1;88(13):5907-11. doi: 10.1073/pnas.88.13.5907.
The hereditary human disease ataxia-telangiectasia (AT) is characterized by phenotypic complexity at the cellular level. We show that multiple mutant phenotypes of immortalized AT cells from genetic complementation group D (AT-D) are corrected after the introduction of a single human chromosome from a human-mouse hybrid line by microcell-mediated chromosome transfer. This chromosome is cytogenetically abnormal. It consists primarily of human chromosome 18, but it carries translocated material from the region 11q22-23, where one or more AT genes have been previously mapped by linkage analysis. A cytogenetically normal human chromosome 18 does not complement AT-D cells after microcell-mediated transfer, whereas a normal human chromosome 11 does. We conclude that the AT-D gene is located on chromosome 11q22-23.
遗传性人类疾病共济失调毛细血管扩张症（AT）在细胞水平上具有表型复杂性。我们发现，通过微细胞介导的染色体转移，从人-鼠杂交系引入一条单个人类染色体后，来自遗传互补组D（AT-D）的永生化AT细胞的多种突变表型得到了纠正。这条染色体在细胞遗传学上是异常的。它主要由人类18号染色体组成，但携带了来自11q22 - 23区域的易位物质，此前通过连锁分析已将一个或多个AT基因定位到该区域。微细胞介导转移后，细胞遗传学上正常的人类18号染色体不能互补AT-D细胞，而正常的人类11号染色体则可以。我们得出结论，AT-D基因位于11q22 - 23染色体上。
