NA09324
DNA from Fibroblast
Description:
OSTEOGENESIS IMPERFECTA: GENETICS UNCERTAIN; LETHAL
INVERTED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
Other
|
|
Family Member
|
1
|
|
Relation to Proband
|
parent
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XX,inv(7)(pter>p13::q22>p13::q22> qter)
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
4 |
| |
| 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 |
| |
| COLLAGEN STRUCTURE AND BIOSYNTHESIS |
Knisely et al (J Med Genet 26:410-411,1989) reported the analysis of type I procollagen gene products synthesized by this fibroblast cell culture. The synthesis of pro alpha 1(I) and pro alpha 2(I) chains, the electrophoretic mobility of the chains, and the efficiency of secretion of the intact molecules were all normal. |
| |
| Cytogenetics |
Chromosome 7: INVERSION Breakpoint 7p13 inv(7)7p13 |
|
Chromosome 7: INVERSION Breakpoint 7q22 inv(7)7q22 |
| Remarks |
Black/Portuguese; phenotypically normal; a son with the same inv had lethal type II OI; the pericentric inv has a brkpt at the site of the gene for alpha 2(I) procollagen; norm type I & III collagen structure & biosynthesis; 46,XX,inv(7) |
| Knisely AS, Abuelo D, Byers PH, Lethal osteogenesis imperfecta [letter] J Med Genet26:410-1 1989 |
| PubMed ID: 2738906 |
| |
| Knisely AS, Richardson A, Abuelo D, Casey S, Singer DB, Lethal osteogenesis imperfecta associated with 46,XY,inv(7)(p13q22) karyotype. J Med Genet25:352-5 1988 |
| PubMed ID: 3385745 |
|
|