Expression, genomic representation, and LD of GFI1^36N. (A) Chromatogram of the GFI1^36S/36N cDNA sequence of one of the patients. Change of G to A at position c107 (c107G>A) results in the replacement of serine by asparagine. The neighboring amino acid sequences of the more common human and mouse sequences are shown. (B) Location of the GFI1^36N variant on genomic and protein level. The SNP is located in exon 2 and replaces a serine by an asparagine at amino acid position 36. Green indicates N-terminal Snail/Growth factor independence 1 repressor domain of GFI1; blue, 6 C₂H₂ zinc finger domains. (C) GFI1 mRNA expression in different patients. GFI1 expression in different AML patients was semiquantitatively assayed by reverse transcriptase PCR. Lanes 1 to 9 represent bone marrow and peripheral blood samples of AML patients at diagnosis. Lane 10 shows cell from the t(8;21)-positive Kasumi 1 AML cell line. Lane 11 shows the control without reverse transcriptase and lane 12 a peripheral blood aphaeresis sample from an AML patient. Lane 13 shows HeLa cells (human cervical cancer) and lane 14 cells originating from a patient with a chronic lymphocytic leukemia (CLL). (D) Results of LD analysis in the genomic region encompassing the GFI1 and EVI5 loci and neighboring regions. LD block 3 spans part of GFI1 and EVI5. (E) LD as determined after genotyping of 39 GFI1^36N heterozygous AML patients from Essen, Marburg, and the DSIL study group. The genotypes of 5 SNPs in the proximity of the GFI1^36N SNP were determined. The results show that GFI1^36N is not within the LD block that spans part of EVI5. (F) Results of LD of a group consisting of the aforementioned 39 GFI1^36N heterozygous AML patients and 26 healthy persons homozygous for GFI1^36S from Essen. Similar to the analysis described previously, GFI1^36N is not within the LD block that spans part of EVI5.