Summary
The gene for Friedreich's ataxia (FA), an autosomal recessive neurodegenerative disorder, has been recently assigned to the long arm of chromosome 9. Linkage disequilibrium between FA and two diverse chromosome 9 markers, D9S5 and D9S15, has been detected in French, French-Canadian and Italian populations. Here, we report the physical localization of these loci by in situ hybridization of probes 26P and MCT112S identifying the D9S5 and D9S15 loci, respectively. Experiments performed on lymphocytes carrying a chromosome 9 pericentric inversion have allowed us to assign both the loci to band 9q21. Furthermore, in situ hybridization data and partial sequencing of the probe MCT112S indicate the presence of alphoid satellite DNA within this region. This suggests that MCT112S is more proximal to the centromere than 26P.
References
Chamberlain S, Shaw J, Rowland A, Wallis J, South S, Nakamura J, Gabain A von, Farral M, Williamson R (1988) Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature 334:248–250
Chamberlain S, Shaw J, Wallis J, Rowland A, Chow L, Farral M, Keats B, Richter A, Roy M, Melancon S, Deufel T, Beraciano J, Williamson R (1989) Genetic homogeneity at the Friedreich's ataxia locus on chromosome 9. Am J Hum Genet 44:518–521
Carlson M, Nakamura Y, Krapcha K, Fujimoto E, O'Konnell P, Leppert M, Lathrop GM, Lalouel JM, White R (1987) Isolation and mapping of polymorphic DNA sequence pMCT112 on chromosome 9q (D9S15). Nucleic Acids Res 15:10614
Fujita R, Agid Y, Trouillas P, Seck A, Tommasi-Davenas C, Driesel AJ, Olek K, Grzeschik K-H, Nakamura Y, Mandel JL, Hanauer A (1989) Confirmation of linkage of Friedreich's ataxia to chromosome 9 and identification of a new closely linked marker. Genomics 4:110–111
Fujita R, Hanauer A, Sirugo G, Heilig R, Mandel JL (1990) Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia. Proc Natl Acad Sci USA 87:1796–1800
Hanauer RA, Chery M, Fujita R, Driesel A, Gilgen Krantz S, Mandel JL (1990) The Friedreich ataxia gene is assigned to chromosome 9 q13-q12 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15. Am J Hum Genet 46:133–137
Kaiser P (1984) Pericentric inversions: problems and significance for clinical genetics. Hum Genet 68:1–47
Mattei MG, Philip N, Passage E, Moisan JP, Mandel JL, Mattei JF (1985) DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome. Hum Genet 69:268–271
Pandolfo M, Sirugo G, Antonelli A, Weitnauer L, Ferretti L, Leone M, Dones I, Cerino A, Fujita R, Hanauer A, Mandel JL, Di Donato S (1990) Friedreich's ataxia in Italian families: genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15. Am J Hum Genet 47:228–235
Potter SS, Jones RS (1983) Unusual domains of human alphoid satellite DNA with contigous non-satellite sequences: sequence analysis of a junction region. Nucleic Acids Res 11:3137–3153
Raimondi E, Talarico D, Moro L, Rutter WJ, Delia Valle G, De Carli L (1988) Regional mapping of the human placental alkaline phosphatase gene (ALPP) to 2q37 by in situ hybridization. Cytogenet Cell Genet 47:98–99
Raimondi E, Antonelli A, Driesel AJ, Pandolfo M (1990) Regionl localization by in situ hybridization of a human chromosome 9 marker tightly linked to the Friedreich's ataxia locus. Hum Genet 85:125–126
Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain terminating inhibitors. Proc Natl Acad Sci USA 74:5463–5467
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Raimondi, E., Bernasconi, P., Moralli, D. et al. Localization of DNA probes tightly linked to the Friedreich's ataxia locus by in situ hybridization in a case of pericentric inversion of chromosome 9. Hum Genet 86, 525–528 (1991). https://doi.org/10.1007/BF00194648
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00194648