Description:
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
47,Y,t(X;14)(Xpter>Xq13::14q32>14qter; 14pter>14q32::Xq13>Xqter),+der(14) (14pter>14q32::Xq13>Xqter)mat
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
10 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| CARDIAC ALPHA- & BETA-MYOSIN HEAVY CHAINS |
Matsuoka et al (Am J Med Genet 32:279-284,1989) performed gene dosage analysis on the DNA from this cell culture using human cardiac alphaand beta-myosin heavy chain probes (MYH6 & MYH7). Densitometric scanning revealed a signal intensity of 143% for this culture when compared with control DNA. The results indicated that human cardiac myosin heavy chain genes segregated with the 14cen>q13 region of the long arm of chromosome 14. |
| |
| Cytogenetics |
Chromosome 14: DERIVATIVE CHROMOSOME Aneuploid Segment (+)14pter>14q32 |
|
Chromosome 14: DERIVATIVE CHROMOSOME Trisomic Segment 14pter>14q32 |
|
Chromosome 14: TRANSLOCATION Breakpoint 14q32 t(X;14)14q32 |
|
Chromosome X: DERIVATIVE CHROMOSOME Aneuploid Segment (+)Xq13>Xqter |
|
Chromosome X: DERIVATIVE CHROMOSOME Trisomic Segment Xq13>Xqter |
|
Chromosome X: TRANSLOCATION Breakpoint Xq13 t(X;14)Xq13 |
| Remarks |
Klinefelter syndrome; der(14) is late replicating in 88% of cells; trisomic for 14pter>14q32; see GM10074 Lymphoid; MYH6 and MYH7 gene probes reveal 3 copies of cardiac alpha- and beta-myosin heavy chain genes |
| Hall LL, Clemson CM, Byron M, Wydner K, Lawrence JB, Unbalanced X;autosome translocations provide evidence for sequence specificity
in the association of XIST RNA with chromatin. Hum Mol Genet11(25):3157-65 2002 |
| PubMed ID: 12444100 |
| |
| 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 |
| |
| 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 |
| |
| Matsuoka R, Yoshida MC, Kanda N, Kimura M, Ozasa H, Takao A, Human cardiac myosin heavy chain gene mapped within chromosome region 14q11.2----q13. Am J Med Genet32:279-84 1989 |
| PubMed ID: 2494889 |
| |
| Van Dyke DL, Flejter WL, Worsham MJ, Roberson JR, Higgins JV, Herr HM, Knuutila S, Wang N, Babu VR, Weiss L, A practical metaphase marker of the inactive X chromosome. Am J Hum Genet39:88-95 1986 |
| PubMed ID: 3463206 |
| |
| Su TS, Nussbaum RL, Airhart S, Ledbetter DH, Mohandas T, O'Brien WE, Beaudet AL, Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. Am J Hum Genet36:954-64 1984 |
| PubMed ID: 6093508 |
| |
| Bernheim A, Berger R, A simple method for R-banding combined with in situ hybridization. Hum Genet63:303 1983 |
| PubMed ID: 6852831 |
| |
| Balazs I, Purrello M, Rubinstein P, Alhadeff B, Siniscalco M, Highly polymorphic DNA site D14S1 maps to the region of Burkitt lymphoma translocation and is closely linked to the heavy chain gamma 1 immunoglobulin locus. Proc Natl Acad Sci U S A79:7395-9 1982 |
| PubMed ID: 6818543 |
| |
| Tan YH, Creagan RP, Ruddle FH, The somatic cell genetics of human interferon: assignment of human interferon loci to chromosomes 2 and 5. Proc Natl Acad Sci U S A71:2251-5 1974 |
| PubMed ID: 4526303 |
| |
| Opitz J, Pallister PD, Ruddle FH, An (X;14) translocation, unbalanced, 47 chromosomes. Repository identification No. GM-74. Cytogenet Cell Genet12:291-2 1973 |
| PubMed ID: 4752868 |
| |
| Ruddle FH, Chapman VM, Ricciuti F, Murnane M, Klebe R, Meera Khan P, Linkage relationships of seventeen human gene loci as determined by man- -mouse somatic cell hybrids. Nat New Biol232:69-73 1971 |
| PubMed ID: 5285340 |
| Passage Frozen |
10 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|