Conversion of diploidy to haploidy: Individuals susceptible to multigene disorders may now be spotted more easily

The problem with humans, at least from the perspective of genetic diagnostics, is that they have two copies of each of their chromosomes (diploidy). Mutations in one copy of a chromosome pair can therefore be obscured by the normal sequence present on the other copy of the chromosome. Here we descri...

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Bibliographic Details
Published in:Nature (London) 2000-02, Vol.403 (6771), p.723-724
Main Authors: Yan, Hai, Papadopoulos, N, Marra, G, Perrera, C, Jiricny, J, Boland, C R, Lynch, H T, Chadwick, R B, de la Chapelle, A, Berg, K, Eshleman, J R, Yuan, Weishi, Markowitz, S, Vogelstein, B
Format: Article
Language:English
Subjects:
diploidy
haploidy
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Summary:The problem with humans, at least from the perspective of genetic diagnostics, is that they have two copies of each of their chromosomes (diploidy). Mutations in one copy of a chromosome pair can therefore be obscured by the normal sequence present on the other copy of the chromosome. Here we describe a way to overcome this problem and expose the masked mutation by converting the human chromosome complement to a haploid state through fusion to a novel recipient cell line. This approach can significantly increase the sensitivity of genetic tests. The conversion approach employs fusion between human and rodent cells to create hybrids that contain only a subset of the human chromosomes. Such fusions have proved useful for a variety of purposes, including genetic diagnosis. Investigation of multigenic syndromes, such as those associated with many neoplastic, neurological and cardiovascular diseases, requires the analysis of multiple genes located on different chromosomes. We have devised a robust system involving a new recipient cell line for generating stable hybrids that contain any desired chromosome after a single fusion with a universal recipient.
ISSN:0028-0836
DOI:10.1038/35001659