Description:
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities
Muscular Dystrophies |
| Class |
Congenital Muscle Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization after cell line submission to CCR
|
|
ISCN
|
46,X,t(X;9)(Xqter>Xp21.2::9p22>9pter; 9qter>9p22::Xp21.2>Xpter)
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| 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 |
| |
| creatine kinase |
According to the submitter, biochemical test results for this subject showed increased enzyme activity. EC Number: 2.7.3.2 |
| |
| Cytogenetics |
Chromosome 9: TRANSLOCATION Breakpoint 9p22 t(X;9)9p22 |
|
Chromosome X: TRANSLOCATION Breakpoint Xp21 t(X;9)Xp21 |
| Remarks |
Clinically affected female; de novo X/autosome translocation; normal X is late replicating; elevated CPK; EMG and muscle biopsy consistent with DMD; no dystrophin gene deletion or duplication detectable by PCR. |
| Astbury C, Christ LA, Aughton DJ, Cassidy SB, Kumar A, Eichler EE, Schwartz S, Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities Genetics in medicine : official journal of the American College of Medical Genetics6:81-9 2004 |
| PubMed ID: 15017330 |
| |
| 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 |
| |
| Lindgren V, de Martinville B, Horwich AL, Rosenberg LE, Francke U, Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus. Science226:698-700 1984 |
| PubMed ID: 6494904 |
| |
| Emanuel, Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X/9 translocation in a female with DMD. Am J Hum Genet33:103A (1981):698-700 1981 |
| PubMed ID: 6494904 |
| dbSNP |
dbSNP ID: 22831 |
| NCBI GTR |
310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
| OMIM |
310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
| Omim Description |
APO-DYSTROPHIN 1, INCLUDED |
| |
BMDDYSTROPHIN, INCLUDED; DMD, INCLUDED |
| |
CARDIOMYOPATHY, X-LINKED DILATED, INCLUDED; XLCM, INCLUDED |
| |
MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKERTYPES; DMD |
|
|