Demonstration of acquired hemizygosity and clonality in acute lymphoblastic leukemia with chromosome 7 abnormalities using hypervariable DNA probes
✍ Scribed by Toshiyuki Yamada; Caroline A. Shippey; Mary Martineau; Dr. Lorna M. Secker-Walker
- Publisher
- John Wiley and Sons
- Year
- 1990
- Tongue
- English
- Weight
- 449 KB
- Volume
- 2
- Category
- Article
- ISSN
- 1045-2257
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✦ Synopsis
Clonal abnormalities of chromosome(s) 7 were investigated in two patients with acute lymphoblastic leukemia. The abnormal karyotypes were 46,XY.-7,de1(6)(qI 3qZl),+i(7q)/47,XY,deI(6),+i(7q) in case I, and 46,XX.-7,t(4;1 l)(qZl;q23), + i(7q) in case 2. DNA from leukemic tissue was investigated with Southern blotting using hypervariable DNA probes AMS3 I and pAg3 located on 7p and 7q, respectively. Restriction fragment length polymorphisms (RFLPs) were detected on the short arm in case I and on both arms in case 2, and a marked difference in intensity between the two alleles was observed. In case I the acquired hemizygosity of 7p, suggested by the cytogenetic findings, was confirmed by Southern blotting. Thus, one chromosome 7 formed the i(7q) and the other No. 7 was duplicated. In case 2 the results of the Southern blotting indicated that the size of the clone with i(7q) was considerably greater than suggested by cytogenetic analysis of the few available metaphase cells.