Characterization and regional mapping of new anonymous chromosome 20-specific DNA markers isolated from a flow-sorted DNA library

Stolz, Frank-Michael; Pfau, Hans-Peter; Reipen, Gernot; Schnittger, Susanne; Grzeschik, Karl‐Heinz; Hansmann, I.

doi:10.1016/0888-7543(91)90019-b

Cited by 2 publications

(1 citation statement)

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“…Patient differences in copy number at three loci on ZOq indicated that the three deletions were not identical in molecular terms. T h e D20S22 locus, assigned to 2Oq12-q13.2 by in situ hybridization to metaphase chromosomes (Stolz et al, 1991), was deleted from the del(20q) chromosomes of patients 1 and 3, but conserved on that chromosome of patient 2. T h e FDXPI locus, assigned to region 20cen-q13.1 by use of somatic cell hybrids (Morel et al, 1988), was deleted from the del(20q) chromosomes of patients 1 and 2, but not of patient 3.…”

Section: Molecular Studiesmentioning

confidence: 98%

Molecular heterogeneity at the breakpoints of smaller 20q deletions

Hollings

1994

Genes Chromosomes & Cancer

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Deletions of the long arm of chromosome 20 [del(20q)] are recurring abnormalities in patients with myeloid disorders. Although variable in size, these deletions are usually interstitial. With the object of defining a commonly deleted region for smaller 20q deletions, we used quantitative Southern blot analysis complemented by restriction fragment length polymorphism (RFLP) analysis to determine the copy number at 15 loci spanning 20q. The proximal breakpoints of three such deletions were found to separate HCK and the growth hormone releasing factor (GHRF) locus near the centromeric boundary of band 20q11.2. The distal breakpoints were localized to the vicinity of the D20S22 locus in band q13.1. A candidate tumor suppressor gene, RBL2, and the SRC oncogene were both located within the commonly deleted region. Six loci in terminal region q13.2-q13.3 were conserved on these del(20q) chromosomes, thereby confirming that the deletions were interstitial. Molecular heterogeneity at one and possibly both deletion breakpoints rules out the pathological involvement of loci at these sites. Instead, loss of a tumor suppressor locus from within the commonly deleted region may contribute to deregulated hemopoiesis.

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Section: Molecular Studiesmentioning

confidence: 98%