Complete Genomic Sequence of the Human PK-L/R-Gene Includes Four Intragenic Polymorphisms Defining Different Haplotype Backgrounds of Normal and Mutant PK-Genes
| Autor: | Peter Nürnberg, Claudia Lenzner, Gisela Jacobasch, Bernd-Joachm Thiele |
|---|---|
| Rok vydání: | 1997 |
| Předmět: |
Anemia
Hemolytic Slovakia Molecular Sequence Data Pyruvate Kinase Mutant Biology Biochemistry Complete sequence Endocrinology Germany Genetics Humans Nucleotide Molecular Biology Gene Czech Republic chemistry.chemical_classification Polymorphism Genetic Base Sequence Haplotype Intron Exons Sequence Analysis DNA Molecular biology Introns Genetics Population England Haplotypes chemistry Genetic marker Mutation Microsatellite |
| Zdroj: | DNA Sequence. 8:45-53 |
| ISSN: | 1042-5179 |
| DOI: | 10.3109/10425179709020884 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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