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. 1991 Dec;49(6):1372–1377.

Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12

D F Callen, E Baker, S Lane, J Nancarrow, A Thompson, S A Whitmore, D H MacLennan, R Berger, D Cherif, I Järvelä, L Peltonen, G R Sutherland, R M Gardiner
PMCID: PMC1702406  PMID: 1746562

Abstract

The gene for Batten disease (CLN3) has been mapped to human chromosome 16 by demonstration of linkage to the haptoglobin locus, and its localization has been further refined using a panel of DNA markers. The aim of this work was to refine the genetic and physical mapping of this disease locus. Genetic linkage analysis was carried out in a larger group of families by using markers for five linked loci. Multipoint analysis indicated a most likely location for CLN3 in the interval between D16S67 and D16S148 (Ẑ = 12.5). Physical mapping of linked markers was carried out using somatic cell hybrid analysis and in situ hybridization. A mouse/human hybrid cell panel containing various segments of chromosome 16 has been constructed. The relative order and physical location of breakpoints in the proximal portion of 16p were determined. Physical mapping in this panel of the markers for the loci flanking CLN3 positioned them to the bands 16p12.1→16p12.3. Fluorescent in situ hybridization of metaphase chromosomes by using these markers positioned them to the region 16p11.2-16p12.1. These results localize CLN3 to an interval of about 2 cM in the region 16p12.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Callen D. F. A mouse-human hybrid cell panel for mapping human chromosome 16. Ann Genet. 1986;29(4):235–239. [PubMed] [Google Scholar]
  2. Callen D. F., Hyland V. J., Baker E. G., Fratini A., Gedeon A. K., Mulley J. C., Fernandez K. E., Breuning M. H., Sutherland G. R. Mapping the short arm of human chromosome 16. Genomics. 1989 Apr;4(3):348–354. doi: 10.1016/0888-7543(89)90341-8. [DOI] [PubMed] [Google Scholar]
  3. Callen D. F., Hyland V. J., Baker E. G., Fratini A., Simmers R. N., Mulley J. C., Sutherland G. R. Fine mapping of gene probes and anonymous DNA fragments to the long arm of chromosome 16. Genomics. 1988 Feb;2(2):144–153. doi: 10.1016/0888-7543(88)90096-1. [DOI] [PubMed] [Google Scholar]
  4. Cherif D., Julier C., Delattre O., Derré J., Lathrop G. M., Berger R. Simultaneous localization of cosmids and chromosome R-banding by fluorescence microscopy: application to regional mapping of human chromosome 11. Proc Natl Acad Sci U S A. 1990 Sep;87(17):6639–6643. doi: 10.1073/pnas.87.17.6639. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Eiberg H., Gardiner R. M., Mohr J. Batten disease (Spielmeyer-Sjøgren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16. Clin Genet. 1989 Oct;36(4):217–218. doi: 10.1111/j.1399-0004.1989.tb03193.x. [DOI] [PubMed] [Google Scholar]
  6. Gardiner M., Sandford A., Deadman M., Poulton J., Cookson W., Reeders S., Jokiaho I., Peltonen L., Eiberg H., Julier C. Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16. Genomics. 1990 Oct;8(2):387–390. doi: 10.1016/0888-7543(90)90297-8. [DOI] [PubMed] [Google Scholar]
  7. Hori T., Takahashi E., Ishihara T., Minamihisamatsu M., Kaneko Y., Murata M. Distamycin A-inducible fragile sites and cancer proneness. Cancer Genet Cytogenet. 1988 Sep;34(2):177–187. doi: 10.1016/0165-4608(88)90257-9. [DOI] [PubMed] [Google Scholar]
  8. Hyland V. J., Grist S., Callen D. F., Sutherland G. R. Anonymous DNA probes to human chromosome 16 derived from a flow-purified library. Am J Hum Genet. 1988 Feb;42(2):373–379. [PMC free article] [PubMed] [Google Scholar]
  9. Julier C., Nakamura Y., Lathrop M., O'Connell P., Leppert M., Mohandas T., Lalouel J. M., White R. A primary map of 24 loci on human chromosome 16. Genomics. 1990 Mar;6(3):419–427. doi: 10.1016/0888-7543(90)90471-6. [DOI] [PubMed] [Google Scholar]
  10. Keith T. P., Green P., Reeders S. T., Brown V. A., Phipps P., Bricker A., Falls K., Rediker K. S., Powers J. A., Hogan C. Genetic linkage map of 46 DNA markers on human chromosome 16. Proc Natl Acad Sci U S A. 1990 Aug;87(15):5754–5758. doi: 10.1073/pnas.87.15.5754. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet. 1985 May;37(3):482–498. [PMC free article] [PubMed] [Google Scholar]
  12. Pinkel D., Straume T., Gray J. W. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci U S A. 1986 May;83(9):2934–2938. doi: 10.1073/pnas.83.9.2934. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Sealey P. G., Whittaker P. A., Southern E. M. Removal of repeated sequences from hybridisation probes. Nucleic Acids Res. 1985 Mar 25;13(6):1905–1922. doi: 10.1093/nar/13.6.1905. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Stallings R. L., Torney D. C., Hildebrand C. E., Longmire J. L., Deaven L. L., Jett J. H., Doggett N. A., Moyzis R. K. Physical mapping of human chromosomes by repetitive sequence fingerprinting. Proc Natl Acad Sci U S A. 1990 Aug;87(16):6218–6222. doi: 10.1073/pnas.87.16.6218. [DOI] [PMC free article] [PubMed] [Google Scholar]

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