Loss of Heterozygosity and Microsatellite Instability at theMLL Locus Are Common in Childhood Acute Leukemia, but not in Infant Acute Leukemia by Julie.

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Loss of Heterozygosity and Microsatellite Instability at theMLL Locus Are Common in Childhood Acute Leukemia, but not in Infant Acute Leukemia by Julie C. Webb, Irina Golovleva, Alan H. Simpkins, Helena Kempski, Brian Reeves, Natalie Sturt, Judith M. Chessells, and Paul M. Brickell Blood Volume 94(1):283-290 July 1, 1999 ©1999 by American Society of Hematology

(A) Diagram of the MLL gene. (A) Diagram of the MLL gene. Vertical lines and open boxes represent exons. Shaded box represents 3′ UTR. Arrows represent oligonucleotides used to screen the PAC library (A and B) or used to map the PAC (L1, L27, L5, and L6). (B) Three PACs isolated which span the gene. Solid lines indicate mapped regions of the PACs, dashed lines indicate unmapped regions of the PACs. (C) Subcloned regions of PACs containing repetitive elements. Open boxes represent exons. (▿), Positions of small repetitive elements. E, EcoRI; X, Xho; T, Taq I. *No restriction digestion at this site due to overlapping Dam methylation. cen, centromere; tel, telomere; bcr, breakpoint cluster region. Julie C. Webb et al. Blood 1999;94:283-290 ©1999 by American Society of Hematology

mllGAAn microsatellite alleles in normal controls. mllGAAn microsatellite alleles in normal controls. Part of MLL intron 6 was amplified from normal DNA samples and separated on a denaturing PAGE gel (see Materials and Methods). Samples 1 through 3: Mother, father, and son, respectively, from a normal family showing inheritance of alleles. Samples 4 through 14: normal control samples. (a, b, and c) Designation of mllGAAn alleles. Faint bands above the main bands in lanes C1 through C7 are nondenatured PCR products. Julie C. Webb et al. Blood 1999;94:283-290 ©1999 by American Society of Hematology

Analysis of microsatellite polymorphic markers at 11q23 in children with acute leukemias. Analysis of microsatellite polymorphic markers at 11q23 in children with acute leukemias. Microsatellite markers were amplified and separated on a denaturing polyacrylamide gel electrophoresis (see Materials and Methods). p, presentation sample; r, remission sample. (A) Diagram showing location of MLL gene, microsatellite markers (mllGAAn, D11S1356, and D11S1364) and nearby genes (CD3D and CBL2) at 11q23. (B) mllGAAn marker. (C) D11S1356 marker. (D) D11S1364 marker. Julie C. Webb et al. Blood 1999;94:283-290 ©1999 by American Society of Hematology

Analysis of the MLL locus by FISH in patient B22. Analysis of the MLL locus by FISH in patient B22. An MLL locus specific probe was hybridized to cells from bone marrow aspirates taken at presentation. Chromosomes were stained with DAPI. (A) Normal interphase cell with two MLL alleles. (B) Interphase cell with one MLL allele deleted. (C) Normal metaphase cell with two MLL alleles. (D) Metaphase cell with one MLL allele deleted. Julie C. Webb et al. Blood 1999;94:283-290 ©1999 by American Society of Hematology