Summary
Myotonic dystrophy (DM) is a genetic disease inherited by an autosomal dominant trait and characterized by multi-organ disorders. Although its biochemical basis has been unknown, the DM locus is closely linked to D19S19 and APOC2 on the long arm of chromosome 19 both in Japanese and Caucasian populations. Linkage studies of Japanese DM families using these polymorphic DNA markers detected two asymptomatic gene carriers in two unrelated families.
Similar content being viewed by others
Article PDF
References
Bartlett, R.J., Pericak-Vance, M.A., Yamaoka, L., Gilbert, J., Herbstreith, M., Hung, W.-Y., Lee, J.E., Mohandas, T., Bruns, G., Laberge, C., Thibault, M.-C., Ross, D. and Roses, A.D. 1987. A new probe for the diagnosis of myotonic muscular dystrophy.Science 235: 1648–1650.
Griggs, R., Wood, D., Moxley, R., Ashizawa, T., Epstein, H., Hejtmancik, F., Bartllet, R., Gilbert, J., Lee, J., Pericak-Vance, M., Roses, A., Brook, J., Howell, R., Johnson, K., Junien, C., Korneluk, R., Mohrenweiser, H., Ropers, H-H., Shaw, D., Siciliano, M. and Todd, J. 1989. Criteria for establishing the validity of genetic recombination in myotonic dystrophy.Neurology 39: 420–421.
Johnson, K., Nimmo, E., Jones, P., Weiss, M., Savontaus, M.-L., Anvret, M., Bartlett, R., Roses, A., Shaw, D., Harper, P.S., Koivunen-Tapio, E. and Williamson, R. 1988. Segregation of linked probes to myotonic dystrophy in a family demonstrating that 152 and APOC2 are on the same side of DM on 19q.Hum. Genet. 80: 379–381.
Lunt, P.W., Meredith, A.L. and Harper, P.S. 1986. First-trimester prediction in fetus at risk for myotonic dystrophy.Lancet II: 350–351.
Meredith, A.L., Huson, S.M., Lunt, P.W., Sarfarazi, M., Harley, H.G., Brook, J.D. and Harper, P.S. 1986. Application of a closely linked polymorphism of restriction fragment length to counselling and prenatal testing in families with myotonic dystrophy.Br. Med. J. 293: 1353–1356.
Myklebost, O., Williamson, R., Markham, A.F., Myklebost, S.R., Rogers, J., Woods, D.E. and Humphries, S.E. 1984. The isolation and characterisation of cDNA clones for human apolipoprotein C-II.J. Biol. Chem. 259: 4401–4404.
Nishisho, I., Miki, T., Tateishi, H., Takai, S., Motomura, K., Nakura, J., Kumahara, Y., Mori, T. and Honjo, T. 1986. Isolation of DNA clones revealing restriction fragment length polymorphisms in the human genome.Jpn. J. Human Genet. 31: 249–258.
Osame, M. and Furusho, T. 1983. Genetic epidemiology of myotonic dystrophy in Kagoshima and Okinawa districts in Japan.Clin. Neurol. 23: 1067–1071.
Romeo, G., Devoto, M. and Costa, G. 1988. A second genetic locus for autosomal dominant polycystic kidney diseaseLancet 2: 8–10.
Schellenberg, G.D., Bird, T.D., Wijsman, E.M., Moore, D.K., Boehnke, M., Bryant, E.M., Lampe, T.H., Nochlin, D., Sumi, S.M., Deeb, S.S., Beyreuther, K. and Martin, G.M. 1988. Absence of linkage of chromosome 21q21 markers to familial alzheimer's disease.Science 241: 1507–1510.
Shaw, D.J., Meredith, A.L., Sarfarazi, M., Huson, S.M., Brook, J.D., Myklebost, O. and Harper, P.S. 1985. The apolipoprotein CII gene: Subchromosomal localization and linkage to the myotonic dystrophy locus.Hum. Genet. 70: 271–273.
Streib, E.W., Fine, B., Sun, F. and Aita, J.F. 1987. Myotonic dystrophy sine myotonia: Normal EMG in two obligate gene-carriers of advanced age.Electromyogr. Clin. Neurophysiol. 27: 443–446.
Takemoto, Y., Miki, T., Nishikawa, K., Nakura, J., Kamino, K., Takai, S., Honjo, T. and Ogihara, T. 1989. The locus of Japanese myotonic dystrophy is also linked to D19S19 on the long arm of chromosome 19.Genomics in press.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Takemoto, Y., Miki, T., Nakura, J. et al. Preclinical detection in Japanese families with myotonic dystrophy using polymorphic DNA markers. Jap J Human Genet 34, 189–194 (1989). https://doi.org/10.1007/BF01900720
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF01900720