| Insert |
DNA: cDNA Insert lengths(kb): 6.099999904632568 Tissue: fetal muscle Gene product: dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272 [DMD] Alleles: U2, A1, A2, C1, T1, U1, A1, A1, A2, A2, B1, B2, C2, D2, R1, R2, T1, T2, T2, T3, D1 |
| Comments |
Restriction digests of the clone give the following sizes (kb): EcoRI--6.1, 3.0. For plasmid amplification, use a lac Iq host. Inserted into EcoRI site with 5' end closer to T7 promoter. Contains internal HindIII (3), PstI (4), BamHI (2), HincII (3), BglII (2), and XbaI sites. Codominant inheritance of the MspI RFLP demonstrated in 3 two-generation families. ATCC 57676 has been converted to meet the requirements of the Budapest Treaty for patent deposits. A compliance form is not required for ATCC 57676, but is for ATCC 57677. Includes probes 9-14. A BamHI digest gives probes 9, 10, and 11-14. Detects genomic HindIII fragments of 7.8, 1, 8.3, 2.3, 1, 8.8, 6, 3.5, 2.55, 2.8, 6.6, 12, 2.4, 1.45, 1.5, 1.9, 2.1, 5.2, 6.8, 10, 1.8, 5.9, 7.8, and 6 kb. Of the DMD cDNA clones, 1-2a includes nucleotides 1-1538; 2b-3: 1455 to approximately 2600; 4-5a: 2600-4550; 5b-7: 4400-6900; 8: 6900-7800; 9-14: 7800-13900 (in base pairs from the 5' end of the cDNA). Enzyme(s) not detecting polymorphism: HindIII. |
| References |
Lindlof M, et al. Gene deletions in X-linked muscular dystrophy. Am. J. Hum. Genet. 44: 496-503, 1989. PubMed: 2929594
Wagner M, et al. MspI RFLP for Duchenne muscular dystrophy cDNA subclone 9. Nucleic Acids Res. 17: 3328, 1989. PubMed: 2471152
Den Dunnen JT, et al. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am. J. Hum. Genet. 45: 835-847, 1989. PubMed: 2573997
Lucotte G, et al. Molecular deletion patterns in Duchenne muscular dystrophy patients. Ann. Genet. 32: 214-219, 1989. PubMed: 2610487
Liechti-Gallati S, et al. RFLPs for Duchenne muscular dystrophy cDNA clones 9 and 10. Am. J. Hum. Genet. 46: 1090-1094, 1990. PubMed: 1971151
Dominguez-Steglich M, et al. The dystrophin gene is autosomally located on a microchromosome in chicken. Genomics 8: 536-540, 1990. PubMed: 2286374
Koenig M, et al. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50: 509-517, 1987. PubMed: 3607877
Koenig M, et al. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 53: 219-228, 1988. PubMed: 3282674
Louis M Kunkel, personal communication
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