Glyoxalase I "null" allele in a new family: identification by abnormal segregation pattern and quantitative assay.
A GLO-I "null" allele in a family was indicated by an abnormal segregation pattern and by half normal red cell enzyme activity in carriers. This is the third reported instance of this uncommon allele, and the first with confirmation by quantitation of enzyme activity.
D000483:Alleles; D004592:Electrophoresis, Starch Gel; D006801:Humans; D007791:Lactoylglutathione Lyase / Q000097:blood / Q000235:genetics*; D008190:Lyases / Q000235:genetics*; D008297:Male; D010334:Paternity; D010375:Pedigree
D008190:Lyases; D007791:Lactoylglutathione Lyase