Polymorphic microsatellites and Wilson disease (WD) (original) (raw)

. 1993 Oct;53(4):864–873.

Abstract

Wilson disease (WD), an autosomal recessive disorder of copper metabolism, has been previously mapped to chromosome 13q. Highly informative PCR-based polymorphic microsatellites closely linked to the WD locus (WND) at 13q14.3, as well as sequence-tagged sites for closely linked loci, are described. Two polymorphic microsatellite markers at D13S118 and D13S119 lie within 3 cM of WND. Two others (D13S227 and D13S228) were derived from a yeast artificial chromosome containing D13S31. These were placed on a genetic linkage map of chromosome 13 and were typed in 74 multiplex WD families from a variety of geographic origins (166 affected members). Multipoint analysis provides very high odds that the location of WND is between D13S31/D13S227/D13S228 and D13S59. Previous odds with RFLP-based markers were only 7:1 more likely than any other location. Current odds are 5,000:1. Preclinical testing of three cases of WD by using the highly informative polymorphic microsatellite markers is described. The markers described here ensure that 95% of predictive tests using DNA from both parents and from at least one affected sib will have an accuracy >99%.

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Selected References

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

  1. Albertsen H. M., Abderrahim H., Cann H. M., Dausset J., Le Paslier D., Cohen D. Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents. Proc Natl Acad Sci U S A. 1990 Jun;87(11):4256–4260. doi: 10.1073/pnas.87.11.4256. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Bowcock A. M., Farrer L. A., Hebert J. M., Agger M., Sternlieb I., Scheinberg I. H., Buys C. H., Scheffer H., Frydman M., Chajek-Saul T. Eight closely linked loci place the Wilson disease locus within 13q14-q21. Am J Hum Genet. 1988 Nov;43(5):664–674. [PMC free article] [PubMed] [Google Scholar]
  3. Bowcock A. M., Farrer L. A., Hebert J. M., Bale A. E., Cavalli-Sforza L. A contiguous linkage map of chromosome 13q with 39 distinct loci separated on average by 5.1 centimorgans. Genomics. 1991 Nov;11(3):517–529. doi: 10.1016/0888-7543(91)90058-m. [DOI] [PubMed] [Google Scholar]
  4. Bowcock A. M., Hebert J. M. The anonymous probe pR1-4 which identifies the locus D13S59 detects a BanII RFLP. Nucleic Acids Res. 1989 Oct 25;17(20):8396–8396. doi: 10.1093/nar/17.20.8396. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Bowcock A., Osborne-Lawrence S., Barnes R., Chakravarti A., Washington S., Dunn C. Microsatellite polymorphism linkage map of human chromosome 13q. Genomics. 1993 Feb;15(2):376–386. doi: 10.1006/geno.1993.1071. [DOI] [PubMed] [Google Scholar]
  6. Braverman M. S. An algorithm to improve the computational efficiency of genetic linkage analysis. Comput Biomed Res. 1985 Feb;18(1):24–36. doi: 10.1016/0010-4809(85)90004-7. [DOI] [PubMed] [Google Scholar]
  7. Carle G. F., Frank M., Olson M. V. Electrophoretic separations of large DNA molecules by periodic inversion of the electric field. Science. 1986 Apr 4;232(4746):65–68. doi: 10.1126/science.3952500. [DOI] [PubMed] [Google Scholar]
  8. Cossu P., Pirastu M., Nucaro A., Figus A., Balestrieri A., Borrone C., Giacchino R., Devoto M., Monni G., Cao A. Prenatal diagnosis of Wilson's disease by analysis of DNA polymorphism. N Engl J Med. 1992 Jul 2;327(1):57–57. doi: 10.1056/NEJM199207023270116. [DOI] [PubMed] [Google Scholar]
  9. Farrer L. A., Bowcock A. M., Hebert J. M., Bonné-Tamir B., Sternlieb I., Giagheddu M., St George-Hyslop P., Frydman M., Lössner J., Demelia L. Predictive testing for Wilson's disease using tightly linked and flanking DNA markers. Neurology. 1991 Jul;41(7):992–999. doi: 10.1212/wnl.41.7.992. [DOI] [PubMed] [Google Scholar]
  10. Figus A., Lampis R., Devoto M., Ristaldi M. S., Ideo A., de Virgilis S., Nurchi A. M., Corrias A., Corda R., Lai M. E. Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis. J Med Genet. 1989 Feb;26(2):78–82. doi: 10.1136/jmg.26.2.78. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Frydman M., Bonné-Tamir B., Farrer L. A., Conneally P. M., Magazanik A., Ashbel S., Goldwitch Z. Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus. Proc Natl Acad Sci U S A. 1985 Mar;82(6):1819–1821. doi: 10.1073/pnas.82.6.1819. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Fulton T. R., Bowcock A. M., Smith D. R., Daneshvar L., Green P., Cavalli-Sforza L. L., Donis-Keller H. A 12 megabase restriction map at the cystic fibrosis locus. Nucleic Acids Res. 1989 Jan 11;17(1):271–284. doi: 10.1093/nar/17.1.271. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Green E. D., Olson M. V. Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction. Proc Natl Acad Sci U S A. 1990 Feb;87(3):1213–1217. doi: 10.1073/pnas.87.3.1213. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Hill G. M., Brewer G. J., Juni J. E., Prasad A. S., Dick R. D. Treatment of Wilson's disease with zinc. II. Validation of oral 64copper with copper balance. Am J Med Sci. 1986 Dec;292(6):344–349. doi: 10.1097/00000441-198612000-00002. [DOI] [PubMed] [Google Scholar]
  15. Houwen R. H., Scheffer H., te Meerman G. J., van der Vlies P., Buys C. H. Close linkage of the Wilson's disease locus to D13S12 in the chromosomal region 13q21 and not to ESD in 13q14. Hum Genet. 1990 Oct;85(5):560–562. doi: 10.1007/BF00194238. [DOI] [PubMed] [Google Scholar]
  16. Hästbacka J., de la Chapelle A., Kaitila I., Sistonen P., Weaver A., Lander E. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet. 1992 Nov;2(3):204–211. doi: 10.1038/ng1192-204. [DOI] [PubMed] [Google Scholar]
  17. Lalande M., Dryja T. P., Schreck R. R., Shipley J., Flint A., Latt S. A. Isolation of human chromosome 13-specific DNA sequences cloned from flow sorted chromosomes and potentially linked to the retinoblastoma locus. Cancer Genet Cytogenet. 1984 Dec;13(4):283–295. doi: 10.1016/0165-4608(84)90073-6. [DOI] [PubMed] [Google Scholar]
  18. Lander E. S., Green P. Construction of multilocus genetic linkage maps in humans. Proc Natl Acad Sci U S A. 1987 Apr;84(8):2363–2367. doi: 10.1073/pnas.84.8.2363. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443–3446. doi: 10.1073/pnas.81.11.3443. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Litt M., Luty J. A. A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. Am J Hum Genet. 1989 Mar;44(3):397–401. [PMC free article] [PubMed] [Google Scholar]
  21. Ott J. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet. 1974 Sep;26(5):588–597. [PMC free article] [PubMed] [Google Scholar]
  22. Scheinberg I. H., Jaffe M. E., Sternlieb I. The use of trientine in preventing the effects of interrupting penicillamine therapy in Wilson's disease. N Engl J Med. 1987 Jul 23;317(4):209–213. doi: 10.1056/NEJM198707233170405. [DOI] [PubMed] [Google Scholar]
  23. Weber J. L., May P. E. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet. 1989 Mar;44(3):388–396. [PMC free article] [PubMed] [Google Scholar]
  24. Weissenbach J., Gyapay G., Dib C., Vignal A., Morissette J., Millasseau P., Vaysseix G., Lathrop M. A second-generation linkage map of the human genome. Nature. 1992 Oct 29;359(6398):794–801. doi: 10.1038/359794a0. [DOI] [PubMed] [Google Scholar]
  25. Yuzbasiyan-Gurkan V., Brewer G. J., Boerwinkle E., Venta P. J. Linkage of the Wilson disease gene to chromosome 13 in North-American pedigrees. Am J Hum Genet. 1988 Jun;42(6):825–829. [PMC free article] [PubMed] [Google Scholar]