Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1992 Jan;29(1):5–11. doi: 10.1136/jmg.29.1.5

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.

P Raeymaekers 1, V Timmerman 1, E Nelis 1, W Van Hul 1, P De Jonghe 1, J J Martin 1, C Van Broeckhoven 1
PMCID: PMC1015812  PMID: 1552545

Abstract

We have previously shown a duplication in 17p11.2 with probe pVAW409R3 (D17S122) in 12 families with hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth disease type 1 (CMT1). In this study we aimed to estimate the size of the duplication using additional polymorphic DNA markers located in 17p11.2-p12. Two other 17p11.2 markers, pVAW412R3 (D17S125) and pEW401 (D17S61), were found to be duplicated in all HMSN I patients tested. Furthermore, all HMSN I patients showed the same duplication junction fragment with probe pVAW409R3. On the genetic map the duplicated markers span a minimal distance of 10 cM while on the physical map they are present in the same NotI restriction fragment of 1150 kb. The discrepancy between the genetic and physical map distances suggests that the 17p11.2 region is extremely prone to recombinational events. The high recombination rate may be a contributing factor to the genetic instability of this chromosomal region.

Full text

PDF
6

Images in this article

7Image
on p.7
8Image
on p.8
9Image
on p.9
10Image
on p.10

Selected References

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

  1. 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]
  2. Brown W. T. Alpha 1-antitrypsin: apparent molecular weight heterogeneity shown by two-dimensional electrophoresis. Am J Hum Genet. 1982 Mar;34(2):195–208. [PMC free article] [PubMed] [Google Scholar]
  3. Chance P. F., Bird T. D., O'Connell P., Lipe H., Lalouel J. M., Leppert M. Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I). Am J Hum Genet. 1990 Dec;47(6):915–925. [PMC free article] [PubMed] [Google Scholar]
  4. 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]
  5. Combarros O., Calleja J., Polo J. M., Berciano J. Prevalence of hereditary motor and sensory neuropathy in Cantabria. Acta Neurol Scand. 1987 Jan;75(1):9–12. doi: 10.1111/j.1600-0404.1987.tb07882.x. [DOI] [PubMed] [Google Scholar]
  6. Defesche J. C., Hoogendijk J. E., de Visser M., de Visser O., Bolhuis P. A. Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17. Neurology. 1990 Sep;40(9):1450–1453. doi: 10.1212/wnl.40.9.1450. [DOI] [PubMed] [Google Scholar]
  7. 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]
  8. Hagberg B., Westerberg B. Hereditary motor and sensory neuropathies in Swedish children. I. Prevalence and distribution by disability groups. Acta Paediatr Scand. 1983 May;72(3):379–383. doi: 10.1111/j.1651-2227.1983.tb09732.x. [DOI] [PubMed] [Google Scholar]
  9. Harding A. E., Thomas P. K. Genetic aspects of hereditary motor and sensory neuropathy (types I and II). J Med Genet. 1980 Oct;17(5):329–336. doi: 10.1136/jmg.17.5.329. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Heery D. M., Gannon F., Powell R. A simple method for subcloning DNA fragments from gel slices. Trends Genet. 1990 Jun;6(6):173–173. doi: 10.1016/0168-9525(90)90158-3. [DOI] [PubMed] [Google Scholar]
  11. 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]
  12. 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]
  13. 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]
  14. Lupski J. R., de Oca-Luna R. M., Slaugenhaupt S., Pentao L., Guzzetta V., Trask B. J., Saucedo-Cardenas O., Barker D. F., Killian J. M., Garcia C. A. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 1991 Jul 26;66(2):219–232. doi: 10.1016/0092-8674(91)90613-4. [DOI] [PubMed] [Google Scholar]
  15. McAlpine P. J., Feasby T. E., Hahn A. F., Komarnicki L., James S., Guy C., Dixon M., Qayyum S., Wright J., Coopland G. Localization of a locus for Charcot-Marie-Tooth neuropathy type Ia (CMT1A) to chromosome 17. Genomics. 1990 Jul;7(3):408–415. doi: 10.1016/0888-7543(90)90175-t. [DOI] [PubMed] [Google Scholar]
  16. 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]
  17. 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]
  18. Patel P. I., Garcia C., Montes de Oca-Luna R., Malamut R. I., Franco B., Slaugenhaupt S., Chakravarti A., Lupski J. R. Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids. Am J Hum Genet. 1990 Dec;47(6):926–934. [PMC free article] [PubMed] [Google Scholar]
  19. 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]
  20. 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]
  21. Raeymaekers P., Timmerman V., Nelis E., De Jonghe P., Hoogendijk J. E., Baas F., Barker D. F., Martin J. J., De Visser M., Bolhuis P. A. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord. 1991;1(2):93–97. doi: 10.1016/0960-8966(91)90055-w. [DOI] [PubMed] [Google Scholar]
  22. Timmerman V., Raeymaekers P., De Jonghe P., De Winter G., Swerts L., Jacobs K., Gheuens J., Martin J. J., Vandenberghe A., Van Broeckhoven C. Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12. Am J Hum Genet. 1990 Oct;47(4):680–685. [PMC free article] [PubMed] [Google Scholar]
  23. Vance J. M., Barker D., Yamaoka L. H., Stajich J. M., Loprest L., Hung W. Y., Fischbeck K., Roses A. D., Pericak-Vance M. A. Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2. Genomics. 1991 Apr;9(4):623–628. doi: 10.1016/0888-7543(91)90355-i. [DOI] [PubMed] [Google Scholar]
  24. 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]
  25. Wright E. C., Goldgar D. E., Fain P. R., Barker D. F., Skolnick M. H. A genetic map of human chromosome 17p. Genomics. 1990 May;7(1):103–109. doi: 10.1016/0888-7543(90)90524-x. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES