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. 1990 Oct;47(4):680–685.

Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.

V Timmerman 1, P Raeymaekers 1, P De Jonghe 1, G De Winter 1, L Swerts 1, K Jacobs 1, J Gheuens 1, J J Martin 1, A Vandenberghe 1, C Van Broeckhoven 1
PMCID: PMC1683809  PMID: 2220808

Abstract

Charcot-Marie-Tooth disease type 1a (CMT 1a) is an autosomal dominant peripheral neuropathy linked to the DNA markers D17S58 and D17S71, located in the pericentromeric region of the chromosome 17p arm. We analyzed an extended 5-generation Belgian family, multiply affected with CMT 1a, for linkage with eight chromosome 17 markers. The results indicated that the CMT 1a mutation is localized in the chromosomal region 17p11.2-p12 between the marker D17S71 and the gene for myosin heavy polypeptide 2 of adult skeletal muscle.

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Selected References

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  1. Bird T. D., Ott J., Giblett E. R. Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am J Hum Genet. 1982 May;34(3):388–394. [PMC free article] [PubMed] [Google Scholar]
  2. Birnboim H. C., Doly J. A rapid alkaline extraction procedure for screening recombinant plasmid DNA. Nucleic Acids Res. 1979 Nov 24;7(6):1513–1523. doi: 10.1093/nar/7.6.1513. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Church G. M., Gilbert W. Genomic sequencing. Proc Natl Acad Sci U S A. 1984 Apr;81(7):1991–1995. doi: 10.1073/pnas.81.7.1991. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Fain P. R., Barker D. F., Goldgar D. E., Wright E., Nguyen K., Carey J., Johnson J., Kivlin J., Willard H., Mathew C. Genetic analysis of NF1: identification of close flanking markers on chromosome 17. Genomics. 1987 Dec;1(4):340–345. doi: 10.1016/0888-7543(87)90034-6. [DOI] [PubMed] [Google Scholar]
  5. Fountain J. W., Wallace M. R., Brereton A. M., O'Connell P., White R. L., Rich D. C., Ledbetter D. H., Leach R. J., Fournier R. E., Menon A. G. Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17. Am J Hum Genet. 1989 Jan;44(1):58–67. [PMC free article] [PubMed] [Google Scholar]
  6. Goldgar D. E., Green P., Parry D. M., Mulvihill J. J. Multipoint linkage analysis in neurofibromatosis type I: an international collaboration. Am J Hum Genet. 1989 Jan;44(1):6–12. [PMC free article] [PubMed] [Google Scholar]
  7. Hoff M., Nakamura Y., Holm T., Ballard L., O'Connell P., Leppert M., Lathrop G. M., Lalouel J. M., White R. Isolation and mapping of a polymorphic DNA sequence pHHH202 on chromosome 17 [D17S33]. Nucleic Acids Res. 1988 Jan 25;16(2):781–781. doi: 10.1093/nar/16.2.781. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Kidd K. K., Bowcock A. M., Schmidtke J., Track R. K., Ricciuti F., Hutchings G., Bale A., Pearson P., Willard H. F., Gelernter J. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms. Cytogenet Cell Genet. 1989;51(1-4):622–947. doi: 10.1159/000132810. [DOI] [PubMed] [Google Scholar]
  9. Kurtzke J. F. Neuroepidemiology. Ann Neurol. 1984 Sep;16(3):265–277. doi: 10.1002/ana.410160302. [DOI] [PubMed] [Google Scholar]
  10. Lathrop G. M., Lalouel J. M. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet. 1984 Mar;36(2):460–465. [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. Middleton-Price H. R., Harding A. E., Monteiro C., Berciano J., Malcolm S. Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17. Am J Hum Genet. 1990 Jan;46(1):92–94. [PMC free article] [PubMed] [Google Scholar]
  13. Nakamura Y., Lathrop M., O'Connell P., Leppert M., Barker D., Wright E., Skolnick M., Kondoleon S., Litt M., Lalouel J. M. A mapped set of DNA markers for human chromosome 17. Genomics. 1988 May;2(4):302–309. doi: 10.1016/0888-7543(88)90018-3. [DOI] [PubMed] [Google Scholar]
  14. O'Connell P., Leach R. J., Ledbetter D. H., Cawthon R. M., Culver M., Eldridge J. R., Frej A. K., Holm T. R., Wolff E., Thayer M. J. Fine structure DNA mapping studies of the chromosomal region harboring the genetic defect in neurofibromatosis type I. Am J Hum Genet. 1989 Jan;44(1):51–57. [PMC free article] [PubMed] [Google Scholar]
  15. Patel P. I., Franco B., Garcia C., Slaugenhaupt S. A., Nakamura Y., Ledbetter D. H., Chakravarti A., Lupski J. R. Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17. Am J Hum Genet. 1990 Apr;46(4):801–809. [PMC free article] [PubMed] [Google Scholar]
  16. Raeymaekers P., De Jonghe P., Swerts L., Muylle L., Gheuens J., Martin J. J., Van Broeckhoven C., Vandenberghe A. Absence of linkage with the Duffy blood group in a family with Charcot-Marie-Tooth neuropathy. J Neurol Sci. 1988 Dec;88(1-3):145–150. doi: 10.1016/0022-510x(88)90212-2. [DOI] [PubMed] [Google Scholar]
  17. Raeymaekers P., Timmerman V., De Jonghe P., Swerts L., Gheuens J., Martin J. J., Muylle L., De Winter G., Vandenberghe A., Van Broeckhoven C. Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I). Am J Hum Genet. 1989 Dec;45(6):953–958. [PMC free article] [PubMed] [Google Scholar]
  18. Schwartz C. E., McNally E., Leinwand L., Skolnick M. H. A polymorphic human myosin heavy chain locus is linked to an anonymous single copy locus (D17S1) at 17p13. Cytogenet Cell Genet. 1986;43(1-2):117–120. doi: 10.1159/000132307. [DOI] [PubMed] [Google Scholar]
  19. Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet. 1974;6(2):98–118. doi: 10.1111/j.1399-0004.1974.tb00638.x. [DOI] [PubMed] [Google Scholar]
  20. Solomon E., Barker D. F. Report of the committee on the genetic constitution of chromosome 17. Cytogenet Cell Genet. 1989;51(1-4):319–337. doi: 10.1159/000132797. [DOI] [PubMed] [Google Scholar]
  21. Vance J. M., Nicholson G. A., Yamaoka L. H., Stajich J., Stewart C. S., Speer M. C., Hung W. Y., Roses A. D., Barker D., Pericak-Vance M. A. Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. Exp Neurol. 1989 May;104(2):186–189. doi: 10.1016/s0014-4886(89)80013-5. [DOI] [PubMed] [Google Scholar]

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