Gusella J F, Jones C, Kao F T, Housman D, Puck T T
Proc Natl Acad Sci U S A. 1982 Dec;79(24):7804-8. doi: 10.1073/pnas.79.24.7804.
A method is described for mapping of the DNA fragments of a human chromosome produced by restriction enzyme treatment of the total DNA from a hybrid cell containing a single human chromosome. The method involves production and selection of somatic cell mutants containing deletions of the human chromosome and application of a hybridization probe consisting of an individual member copy of a repetitive human DNA family. A linear map has been constructed of 19 marker DNA fragments and 5 immunological and biochemical markers on human chromosome 11, selected as a model chromosome for these studies. This approach appears to be widely applicable, is independent of cytogenetic analysis, promises to be capable of revealing the existence of rearrangements as well as deletions, appears to be amenable to further increase in resolving power, and offers potential application in various human genetic problems.
本文描述了一种用于绘制人类染色体DNA片段图谱的方法，该染色体DNA片段是通过对来自含有单条人类染色体的杂交细胞的总DNA进行限制性酶处理而产生的。该方法包括产生和选择含有人类染色体缺失的体细胞突变体，以及应用由重复人类DNA家族的单个成员拷贝组成的杂交探针。已构建了人类11号染色体上19个标记DNA片段以及5个免疫和生化标记的线性图谱，11号染色体被选作这些研究的模型染色体。这种方法似乎具有广泛的适用性，独立于细胞遗传学分析，有望能够揭示重排以及缺失的存在，似乎易于进一步提高分辨率，并在各种人类遗传问题中具有潜在应用价值。
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