Molecular mapping of uncharacteristically small 5q deletions in two patients with the 5q-syndrome: Delineation of the critical region on 5q and identification of a 5q-breakout

Journal Article · Tue Feb 01 00:00:00 EST 1994 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1994.1090· OSTI ID:6482959

Boultwood, J; Fidler, C; Lewis, S; Littlewood, T J; Wainscoat, J S; Buckle, V J ^[1]; Kelly, S ^[2]; Sheridan, H ^[3]

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1. John Radcliffe Hospital, Headington, Oxford (United Kingdom)
2. Wycombe General Hospital, Buckinghamshire (United Kingdom)
3. Churchill Hospital, Oxford (United Kingdom)

Molecular mapping techniques have defined the region of gene loss in two patients with the 5q-syndrome and uncharacteristically small 5q deletions (5q31-q33). The allelic loss of 10 genes localized to 5q23-qter (centromere-CSF2-EGR1-FGFA-GRL-ADRB2-CSF1R-SPARC-GLUH1-NKSF1-FLT4-telomere) was investigated in peripheral blood cell fractions. Gene dosage experiments demonstrated that CSF2, EGR1, NKSF1, and FLT4 were retained on the 5q-chromosome in both patients and that FGFA was retained in one patient, thus placing these genes outside the critical region. GRL, ADRB2, CSF1R, SPARC, and GLUH1 were shown to be deleted in both patients. The proximal breakpoint is localized between EGR1 and FGFA in one patient and between FGFA and ADRB2 in the other, and the distal breakpoint is localized between GLUH1 and NKSF1 in both patients. Pulsed-field gel electrophoresis was used to map the 5q deletion breakpoints, and breakpoint-specific fragments were detected with FGFA in the granulocyte but not the lymphocyte fraction of one patient. This study has established the critical region of gene loss of the 5q-chromosome in the 5q-syndrome, giving the location for a putative tumor-suppressor gene in the 5.6-Mb region between FGFA and NKSF1. 54 refs., 3 figs., 2 tabs.

• OSTI ID: 6482959
• Journal Information: Genomics; (United States), Vol. 19:3; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
GENE MUTATIONS
DETECTION
HUMAN CHROMOSOME 5
GENETIC MAPPING
BONE MARROW CELLS
HEREDITARY DISEASES
LYMPHOCYTES
ANIMAL CELLS
BIOLOGICAL MATERIALS
BLOOD
BLOOD CELLS
BODY FLUIDS
CHROMOSOMES
CONNECTIVE TISSUE CELLS
DISEASES
HUMAN CHROMOSOMES
LEUKOCYTES
MAPPING
MATERIALS
MUTATIONS
SOMATIC CELLS
550400* - Genetics