164
Views
0
CrossRef citations to date
0
Altmetric
Research Article

Intragenic DNA Polymorphism Analysis of DMD/BMD Dystrophy Gene for Carrier and Prenatal Diagnosis in 60 Iranian Healthy Individuals

, , , , , & show all
Pages 551-556 | Received 14 Dec 2010, Published online: 21 Jul 2011

REFERENCES

  • Armour, J. A., Sismani, C., Patsalis, P. C., & Cross, G. (2000). Measurement of locus copy number by hybridization with amplifiable probs. Nucleic Acids Research, 28, 605–609.
  • Bachrati, C. Z., Somodi, Z., Endreffy, E., Kalmar, T., & Rasko, I. (1998). Carrier detection by microsatellite analysis of Duchenne/Becker muscular dystrophy in Hungarian families. Annals of Human Genetics, 62, 511–520.
  • Barbujani, G., Russo, A., Dnielli, G. A., Spiegler, A. W. J., Borbowska, J., & Harismanova, P. I. (1990). Segregation analysis of 1885 families: Significant departure from the expected proportion of sporadic cases. Human Genetics, 84, 522–526.
  • Battaloglu, E., Telatar, M., Deymeer, F., Serdaroglu, P., Kuseyri, F., Ozdemir, C., (1992). DNA analysis in Turkish Duchenne/becker muscular dystrophy families. Human Genetics, 89, 635–639.
  • Beggs, A. H., Koenig, M., Boyce, F. M., & Kunkel, L. M. (1990). Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Human Genetics, 86, 45–48.
  • Bennett, R. R., Den Dunnen, J., O'Brien, K. F., Darras, B. T., & Kunkel, L. M. (2001). Detection of mutation in dystrophy gene via automated DHLPC screening and sequencing. BMC Genetics, 9, 67–80.
  • Chamberlain, J. S., Gibbs, R. A., Ranier, J. E., Nguyen, P. N., & Caskey, C. T. (1988). Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Research, 16, 11141–11146.
  • Clemens, P. R., Fenwick, R. G., Chamberlain, J. S., Gibbs, R. A., de Andrade, M., Chakraborty, R., (1991). Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. American Journal of Human Genetics, 49, 951–960.
  • Emery, A. E. H. (1998). The muscular dystrophies. British Medical Journal, 317, 991–995.
  • Forest, S., Cross, G. S., Speer, A., Gardner-Medwin, D., Burner, J., & Davise, K. (1987). preferential deletion of exons in Duchenne and Beker muscular dystrophies. Nature, 329, 638–640.
  • Hoffman, E. P., Brown, R. H., & Kunkel, L. M. (1988). Dystrophin: The protein product of the Duchenne muscular dystrophy locus. Cell, 53, 219–226.
  • Hu, X., Ray, P. N., Murphy, E., Thompson, M. W., & Worton, R. G. (1990). Duplicational mutation at the Duchenne muscular dystrophy locus: Its frequency, distribution, origin, and phenotype/genotype correlation. American Journal of Human Genetics, 46, 682–695.
  • Janssen, B., Hartmann, C., Scholz, V., Jauch, A., & Zschocke, J. (2005). MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics, 6, 29–35.
  • Joncourt, F., Neuhaus, B., Jostarndt-Foegen, K., Kleinle, S., Steiner, B., & Gallati. S. (2004). Rapid identification of female carrier of DMD/BMD by quantitative real-time PCR. Human Mutation, 28, 385–391.
  • Kim, U. K., Cho, M. S., Chae, J. J., kim, S. H., Hong, S. S., Lee, S. H., (1999). Allelic frequencies of six (CA)n microsatellite markers of the Dystrophin gene in the Korean population. Human Heredity, 49, 205–207.
  • Koenig, M., Hofman, E. P., Bertelson, C. J., Monaco, A. P., Feener, C., & Kunkel, L. M. (1987). complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene normal and affected individuals. Cell, 50, 509–517.
  • Ligon, A. H., Kashork, C. D., Richards, C. S., & Shaffer, L. G. (2000). Identification of Famale carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach. European Journal of Human Genetics, 8, 293–298.
  • Monaco, A. P., Bertelson, C. J., Liechti-gallati, S., Moser, H., & Kunkel, L. M. (1988). An explanation for the phenotypic difference between patients bearing partial deletions of the DMD locus. Genomics, 2, 90–95.
  • Moser, H. (1984). Duchenne muscular dystrophic: Aspects and genetics prevention. Human Genetics, 66, 17–40.
  • Ott, J. (1992). Strategies for characterizing highly polymorphic markers in human gene mapping. American Journal of Human Genetics, 51, 283–290.
  • Sacare, V. (2008). Molecular genetic characteristies of Duchenne-Becker muscular dystrophy in the Republic of Moldova. Russian Journal of Genetics, 44, 1219–1223.
  • Saiki, R. K., Gelfand, D. H., Stoffel, S., Scharf, S. J., Higuchi, R., Horn, G. T., (1989). Primer—directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science, 239, 487–491.
  • Sbiti, A., El Kerch, F., & Sefiani, A. (2002). Analysis of dystrophin gene deletion by multiplex PCR in Moroccan patients. Journal of Biomedical and Biotechnology, 2, 158–160.
  • Shormat, R., Gluk, E., Legum, C., & Shiloh, Y. (1994). Relatively low proportion of dystrophin gene deletions in Israeli Duchenne and Becker muscular dystrophy patients. American Journal of Medical Genetics, 49, 369–373.
  • Song, K. S., Choi, J. R., Lee, C. H., Park, Y. S., Kang, S.W., & Moon, J. H. (1996). Analysis on restriction fragment lengh polymorphism of Duchenne muscular dystrophy gene for diagnosis of carrier in Korean. Korean Journal of Clinicalpathology, 16, 760–770.
  • Tuskamoto, H., Inui, k., Fukushima, H., & Okada, S. (1996). Allele frequencies of intragenic, and 5′ and 3′ markers of the dystrophin gene in Japanese families with Duchenne or Becker muscular dystrophy. Japan Journal Human Genetics, 41, 391–397.
  • Worton, R. G., Molnar, M. J., & Karpati, G. (2001). The muscular dystrophies. In C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. valle (eds.), The Metabolic and Molecular Bases of Inherited Disease. New York: McGrahill, 5493–5523.
  • Zeng, Y. T., Chen, M. J., Ren, R. Z., Qiu, X. K., & Hung, S. Z. (1991). Analysis of RFLPs and DNA deletion in the Chinese Duchenne muscular dystrophy gene. Journal of Medical Genetics, 28, 167–170.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.