Description:
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
Muscular Dystrophies |
| Class |
Congenital Muscle Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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ISCN
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46,X,t(X;11)(Xqter>Xp21::11q13>11qter;11pter>11q13::Xp21>Xpter)
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
8 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| creatine kinase |
According to the submitter, biochemical test results for this subject showed increased enzyme activity. EC Number: 2.7.3.2 |
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| Cytogenetics |
Chromosome 11: TRANSLOCATION Breakpoint 11q13 t(X;11)11q13 |
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Chromosome X: TRANSLOCATION Breakpoint Xp21 t(X;11)Xp21 |
| Remarks |
Clinically affected female; de novo balanced chromosome translocation; repeated CPK levels in the family suggest the mother is not a DMD carrier; elevated CPK and aldolase levels; typical EMG and muscle biopsy histology consistent with a dystrophy; in blood leukocytes, the normal X shows non-random inactivation; dystrophin gene shows no detectable deletion or duplication by multiplex PCR. |
| Carrel L, Willard HF, Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others. Proc Natl Acad Sci U S A96:7364-9 1999 |
| PubMed ID: 10377420 |
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| Sanford J, Kim BW, Deaven LL, Jones C, Higgins MJ, Nowak NJ, Shows TB, A human chromosome 11 NotI end clone library. Genomics15:653-8 1993 |
| PubMed ID: 8468060 |
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| Lafreniere RG, Brown CJ, Powers VE, Carrel L, Davies KE, Barker DF, Willard HF, Physical mapping of 60 DNA markers in the p21.1----q21.3 region of the human X chromosome. Genomics11:352-63 1991 |
| PubMed ID: 1685139 |
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| Tokino T, Takahashi E, Mori M, Tanigami A, Glaser T, Park JW, Jones C, Hori T, Nakamura Y, Isolation and mapping of 62 new RFLP markers on human chromosome 11. Am J Hum Genet48:258-68 1991 |
| PubMed ID: 1671318 |
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| Brown CJ, Willard HF, Noninactivation of a selectable human X-linked gene that complements a murine temperature-sensitive cell cycle defect. Am J Hum Genet45:592-8 1989 |
| PubMed ID: 2491017 |
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| de Martinville B, Kunkel LM, Bruns G, Morle F, Koenig M, Mandel JL, Horwich A, Latt SA, Gusella JF, Housman D, et al, Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. Am J Hum Genet37:235-49 1985 |
| PubMed ID: 2984924 |
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| Dracopoli NC, Rettig WJ, Albino AP, Esposito D, Archidiacono N, Rocchi M, Siniscalco M, Old LJ, Genes controlling gp25/30 cell-surface molecules map to chromosomes X and Y and escape X-inactivation. Am J Hum Genet37:199-207 1985 |
| PubMed ID: 4038849 |
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| Taggart RT, Mohandas TK, Shows TB, Bell GI, Variable numbers of pepsinogen genes are located in the centromeric region of human chromosome 11 and determine the high-frequency electrophoretic polymorphism. Proc Natl Acad Sci U S A82:6240-4 1985 |
| PubMed ID: 3862130 |
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| Wang TS, Pearson BE, Suomalainen HA, Mohandas T, Shapiro LJ, Schroder J, Korn D, Assignment of the gene for human DNA polymerase alpha to the X chromosome. Proc Natl Acad Sci U S A82:5270-4 1985 |
| PubMed ID: 2410918 |
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| Mohandas T, Sparkes RS, Shapiro LJ, Reactivation of an inactive human X chromosome: evidence for X inactivation by DNA methylation. Science211:393-6 1981 |
| PubMed ID: 6164095 |
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| Greenstein RM, Reardon MP, Chan TS, Middleton AB, Mulivor RA, Greene AE, Coriell LL, An (X;11) translocation in a girl with Duchenne muscular dystrophy. Repository identification No. GM1695. Cytogenet Cell Genet27:268 1980 |
| PubMed ID: 7438786 |
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| Mohandas T, Sparkes RS, Hellkuhl B, Grzeschik KH, Shapiro LJ, Expression of an X-linked gene from an inactive human X chromosome in mouse-human hybrid cells: further evidence for the noninactivation of the steroid sulfatase locus in man. Proc Natl Acad Sci U S A77:6759-63 1980 |
| PubMed ID: 6935682 |
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| Greenstein, An X/autosome translocation in a girl with Duchenne Muscular Dystrophy (DMD): Evidence for DMD gene localization. Pediatr Res511:457 (1977):6759-63 1977 |
| PubMed ID: 6935682 |
| dbSNP |
dbSNP ID: 13629 |
| NCBI GTR |
310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
| OMIM |
310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
| Omim Description |
APO-DYSTROPHIN 1, INCLUDED |
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BMDDYSTROPHIN, INCLUDED; DMD, INCLUDED |
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CARDIOMYOPATHY, X-LINKED DILATED, INCLUDED; XLCM, INCLUDED |
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MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKERTYPES; DMD |
| Passage Frozen |
8 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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