Summary
We mapped PMP-22 gene, candidate gene for the Charcot-Marie-Tooth disease (CMT) 1A, by direct R-banding fluorescencein situ hybridization. The signals of PMP-22 probe were localized to chromosome band 17p11.2. The present result was within the map position of the CMT 1A gene by genetic linkage analysis, and strongly indicated that PMP-22 gene is a candidate gene for the CMT 1A.
Article PDF
References
Davisson MT, Roderick TH (1978): Status of the linkage maps of the mouse. Cytogenet Cell Genet22: 552–557
Frézal J, Schinzel A (1991): Report of the committee on clinical disorders, chromsome aberrations and uniparental disomy. Cytogenet Cell Genet58: 986–1052.
Goldman MA, Holmquist GP, Gray MC, Caston LA, Nag A (1984): Replication timing of genes and middle repetitive sequences. Science234: 686–692
Hayasaka K, Himoro M, Nanao K, Sato W, Miura M, Yuemura K, Takahashi E, Takada G (1992): Isolation and sequence determination of cDNA encoding PMP-22 (PAS-II/SR13/GAS-3) of human peripheral myelin. Biochem Biophys Res Commun186: 827–831
Holmquist G, Gray M, Ponter T, Jordan J (1982): Characterization of Giemsa dark- and lightband DNA. Cell31: 121–129
Lemieux N, Dutrillaux B, Viegas-Péquignot E (1992): A simple method for simultaneous R- or G-banding and fluorescencein situ hybridization of small single copy genes. Cytogenet Cell Genet59: 311–312
Lupski JR, Montes de Oca-Luna R, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA (1991): DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell66: 219–232
McAlpine PJ, Feasby TE, Hahn AF, Komamicki L, James S, Guy C, Dixon M, Qayyum S, Wright J, Coopland G (1990): Localization of a locus for Charcot-Marie-Tooth neuropathy type 1a (CMT1A) to chromosome 17. Genomics7: 408–415
Morell P, Quarles RH, Norton WT (1989): Formation, Structure, and Biochemistry of Myelin. In: Siegel GJ, Agranoff BW, Albers RW, Molinoff PB (eds). Basic Neurochemistry: Molecular, Cellular and Medical Aspects. Raven Press, New York, pp 109–136
Münke M, Francke U (1987): The physical map of Mus musculus chromosome 11 reveals evolutionary relationships with different syntenic groups of genes in Homo sapiens. J Molec Evol25: 134–140
Patel PI, Franco B, Garcia C, Slaugenhaupt SA, Nakamura Y, Ledbetter DH, Chakravarti A, Lupski JR (1990): 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 Genet46: 801–809
Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, de Visser M, Bolhuis PA (1991): Duplication in chromosome 17p.11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). Neuromuscular Disorders1: 93–97
Suter U, Welcher AA, Özcelik T, Snipes GJ, Kosaras B, Francke U, Billings-Gagliardi S, Sidman RL, Shooter EM (1992): Nature356: 241–244
Takahashi E, Hori T, O'Connell P, Leppert M, White R (1990): R-banding and nonisotopicin situ hybridization: precise localization of human type II collagen gene (COAL2A1). Hum Genet86: 14–16
Takahashi E, Hori T, O'Connell P, Leppert M, White R (1991): Mapping of the MYC gene to band 8q24.12–q24.13 by R-banding and distal to fra (8)(q24.11), FRA8E, by fluoresencein situ hybridization. Cytogenet Cell Genet57: 109–111
Vance JM, Barker D, Yamaoka LH, Stajich JM, Loprest L, Hung W-Y, Fischbeck K, Roses AD, Pericak-Vance MA (1991): Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2. Genomics9: 623–628
Viegas-Péquignot E, Lin LZ, Dutrillaux B, Apiou F, Paulin D (1989): Assignment of human desmin gene to band 2q35 by nonradioactivein situ hybridization. Hum Genet83: 33–36
Yamakawa K, Takahashi E, Saito H, Sato T, Oshimura M, Hori T, Nakamura Y (1991): Isolation and mapping of 75 new DNA markers on human chromosome 3. Genomics9: 536–543
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Takahashi, Ei., Takeda, O., Himoro, M. et al. Localization of PMP-22 gene (candidate gene for the Charcot-Marie-Tooth disease 1a) to band 17p11.2 by direct r-banding fluoreschenceIn situ hybridization. Jap J Human Genet 37, 303–306 (1992). https://doi.org/10.1007/BF01883321
Received:
Revised:
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF01883321