The DOI matches its Crossref record; 24 of the 24 references it cites were found in a registry or an index.
Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.
Open accessAbstract
A method that allows the specific cloning of DNA fragments absent from patients homozygous or hemizygous for chromosomal deletions is described. The method involves phenol-accelerated competitive DNA reassociation and subsequent molecular cloning of appropriately reassociated molecules. The deletion DNA sample utilized in the competition was isolated from a patient with a minute interstitial deletion in the short arm of the X chromosome. Sheared DNA isolated from a male child, who was diagnosed as having Duchenne muscular dystrophy, chronic granulomatous disease, and retinitis pigmentosa, was combined in a 200-fold excess with Mbo I-cleaved DNA isolated from a 49, XXXXY human lymphoid cell line, and the mixture was subjected to a phenol-enhanced reassociation technique. Analysis of 81 unique segments derived from cloned reassociated DNA molecules has led to the identification of 4 (5%) human DNA fragments that are absent from the male patient's DNA. The 4 clones were localized, on the basis of hybridization with restriction nuclease-digested genomic DNA from a panel of human and human-rodent hybrid cell lines, into three regions surrounding band 21 of the short arm of the normal human X chromosome. These clones are potential linkage markers for the diseases affecting this boy. Each clone, as well as others obtainable by this approach, may also serve as a starting point in the eventual cloning of these three X-linked-disease loci. Extension of this approach to other loci, including human tumors potentially homozygous for small deletions, should also be possible.
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Cites
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Self-citationAniridia-Wilms’ tumor association: evidence for specific deletion of 11p13
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Koenig, M., Hoffman, E. P., Bertelson, C. J., Monaco, A. P., Feener, C., & Kunkel, L. M. (1987) · Cell · doi:10.1016/0092-8674(87)90504-6 · Cited by 2,411
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Royer-Pokora, B., Kunkel, L. M., Monaco, A. P., Goff, S. C., Newburger, P. E., Baehner, R. L., Cole, F. S., Curnutte, J. T., & Orkin, S. H. (1986) · Nature · doi:10.1038/322032a0 · Cited by 833
Self-citationThe Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle
Zubrzycka-Gaarn, E. E., Bulman, D. E., Karpati, G., Burghes, A. H. M., Belfall, B., Klamut, H. J., Talbot, J., Hodges, R. S., Ray, P. N., & Worton, R. G. (1988) · Nature · doi:10.1038/333466a0 · Cited by 658
Allen, D. G., Whitehead, N. P., & Froehner, S. C. (2016) · Physiological Reviews · doi:10.1152/physrev.00007.2015 · Cited by 426
Metadata
- Authors
- Kunkel, L. M., Monaco, A. P., Middlesworth, W., Ochs, H. D., & Latt, S. A.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1985-07
- Volume
- 82
- Issue
- 14
- Pages
- 4778-4782
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2043219138
- Cited by
- 448
- References
- 24
- FWCI
- 31.54
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. https://app.cochat.ai/papers/10.1073/pnas.82.14.4778
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- Kunkel, L. M., Monaco, A. P., Middlesworth, W., Ochs, H. D., & Latt, S. A. (1985). Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.82.14.4778
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