title: Complete genomic sequence of the human PK-L/R-gene includes four intragenic polymorphisms defining different haplotype backgrounds of normal and mutant PK-genes.
abstract: The human pyruvate kinase L/R-gene has been completely sequenced in unrelated normal individuals and in pyruvate kinase-deficient patients by a PCR-based direct genomic sequencing approach and analyzed for polymorphisms. The total length of the gene is 8409 nucleotides. Four polymorphic sites have been detected: C/A1705 and C/T1992 in exon 12, a T-stretch in intron 1 occurring in the two polymorphic forms (T)10 and (T)19 and an (ATT)n microsatellite in intron J which has been found in the variation (ATT)11-17. Haplotype analysis using these four markers has been applied to trace the genetic background in PK-deficiencies. The results support the idea of a single origin of most of the individual PK-mutations.
authors.affiliation: Institute of Biochemistry, Faculty of Medicine, Humboldt-University Berlin, Charité, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Lenzner
authors.forename: P
authors.initials: P
authors.lastname: Nürnberg
authors.forename: G
authors.initials: G
authors.lastname: Jacobasch
authors.forename: B J
authors.initials: BJ
authors.lastname: Thiele
mesh_terms: D000743:Anemia, Hemolytic / Q000235:genetics*; D001483:Base Sequence; D018153:Czech Republic; D004739:England; D005091:Exons; D005828:Genetics, Population; D005858:Germany; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D011110:Polymorphism, Genetic; D011770:Pyruvate Kinase / Q000172:deficiency / Q000235:genetics*; D017422:Sequence Analysis, DNA; D018154:Slovakia
chemical_list: D011770:Pyruvate Kinase