A new variant glyoxalase I allele that is readily detectable in stimulated lymphocytes and lymphoblastoid cell lines but not in circulating lymphocytes or erythrocytes.

摘要: We describe an allele of the human glyoxalase GLO locus that encodes enzymatically inactive form protein, which would not have been detected if only circulating erythrocytes and lymphocytes had studied. The new is named GLO*3 its protein product, 3. Circulating blood cells GLO*2/GLO*3 heterozygotes just one electrophoretic band migrates as normal 2-2 dimer. Lymphoblastoid cell lines phytohemagglutinin-stimulated from same individuals two bands, with mobility dimer 2-1 present in GLO*2/GLO*1 heterozygotes, but a 1-1 present. Therefore, monomer has 1 unless it combined monomers 2-3 1-3 heterodimers. failure to detect 3 red unstimulated attributed relatively great instability or small rate production those cells. Consistent this interpretation reduction activity GLO*1/GLO*3 65% less homozygotes while heterozygous lymphoblastoid about 80% normal. In contrast, copy deleted by gamma-irradiation was 50%-60% Our observations indicate certain kinds mutant alleles locus, perhaps other loci, may be surveys on only. segregation are expressed white could confuse attempts determine parentage, they might family described here. also demonstrate feasibility mapping genes using ionizing radiation create partial chromosome deletions cultured