Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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2
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Relation to Proband
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mother
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XX,t(1;16)(1pter>1q44::16p13.11> 16pter;16qter>16p13.11::1q44>1qter)
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| CHROMOSOME 11 FRAGILE SITE |
Sutherland et al (Cytogenet Cell Genet 47:201-203,1988) studied 16 EBV-transformed lymphoblastoid cell lines including this cell culture to examine the expression of an achromatic gap or fragile site-like lesion at 11q23.1. The spontaneous frequency for this lesion was 4% which increased to 38% after treatment with BrdU. The authors suggested that the lesion is a viral chromosome modification site. |
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| Cytogenetics |
Chromosome 1: TRANSLOCATION Breakpoint 1q44 t(1;16)1q44 |
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Chromosome 16: TRANSLOCATION Breakpoint 16p13 t(1;16)16p13 |
| Remarks |
Clinically normal; Hb alpha/Hb beta ratio equals 1:1 in RBC |
| Keith TP, Green P, Reeders ST, Brown VA, Phipps P, Bricker A, Falls K, Rediker KS, Powers JA, Hogan C, et al, Genetic linkage map of 46 DNA markers on human chromosome 16. Proc Natl Acad Sci U S A87:5754-8 1990 |
| PubMed ID: 2377614 |
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| Sutherland GR, Baker E, Callen DF, A BrdU-enhanceable fragile site or viral modification site at 11q23.1 in lymphoblastoid cultures. Cytogenet Cell Genet47:201-3 1988 |
| PubMed ID: 2843323 |
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| Nicholls RD, Jonasson JA, McGee JO, Patil S, Ionasescu VV, Weatherall DJ, Higgs DR, High resolution gene mapping of the human alpha globin locus. J Med Genet24:39-46 1987 |
| PubMed ID: 2879933 |
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| Simmers RN, Mulley JC, Hyland VJ, Callen DF, Sutherland GR, Mapping the human alpha globin gene complex to 16p13.2----pter. J Med Genet24:761-6 1987 |
| PubMed ID: 3430555 |
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| Callen DF, A mouse-human hybrid cell panel for mapping human chromosome 16. Ann Genet29:235-9 1986 |
| PubMed ID: 3495225 |
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