Functional complementation of ataxia-telangiectasia group D (AT-D) cells by microcell-mediated chromosome transfer and mapping of the AT-D locus to the region 11q22-23.
Functional complementation of ataxia-telangiectasia group D (AT-D) cells by microcell-mediated chromosome transfer and mapping of the AT-D locus to the region 11q22-23.
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通过微细胞介导的染色体转移和将 AT-D 基因座映射到 11q22-23 区域，对共济失调毛细血管扩张 D 组 (AT-D) 细胞进行功能互补。
DOI：
10.1073/pnas.88.13.5907
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发表时间：
1991
影响因子：
11.1
通讯作者：
Friedberg,EC
中科院分区：
文献类型：
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作者：
Lambert,C;Schultz,RA;Smith,M;Wagner-McPherson,C;McDaniel,LD;Donlon,T;Stanbridge,EJ;Friedberg,EC
遗传性人类疾病共济失调毛细血管扩张症 (AT) 的特点是细胞水平上的表型复杂性。我们发现，通过微细胞介导的染色体转移引入来自人-小鼠杂交系的单个人类染色体后，来自遗传互补组 D (AT-D) 的永生化 AT 细胞的多个突变表型得到纠正。该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，但它携带来自 11q22-23 区域的易位物质，该区域先前已通过连锁分析定位了一个或多个 AT 基因。细胞遗传学正常的人类 18 号染色体在微细胞介导的转移后不会与 AT-D 细胞互补，而正常的人类 11 号染色体则可以。我们得出结论，AT-D基因位于染色体11q22-23上。
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.
共济失调毛细血管扩张症和奈梅亨断裂综合征的基因互补分析：50 例患者的调查。
DOI：
10.1159/000132673
发表时间：
1988
期刊：
Cytogenetics and cell genetics
影响因子：
--
作者：
N. Jaspers;R. Gatti;C. Baan;P. Linssen;D. Bootsma
通讯作者：
D. Bootsma