Complete genomic sequence of the human PK-L/R-gene includes four intragenic polymorphisms defining different haplotype backgrounds of normal and mutant PK-genes.
DNA Seq
; 8(1-2): 45-53, 1997.
Article
en En
| MEDLINE
| ID: mdl-9522120
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Polimorfismo Genético
/
Piruvato Quinasa
/
Haplotipos
/
Anemia Hemolítica
/
Mutación
Límite:
Humans
País/Región como asunto:
Europa
Idioma:
En
Revista:
DNA Seq
Asunto de la revista:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
Año:
1997
Tipo del documento:
Article
País de afiliación:
Alemania