title: Molecular characterization of Turkish patients with pyrimidine 5' nucleotidase-I deficiency.
abstract: Pyrimidine 5' nucleotidase-I (P5N-I) deficiency is a rare autosomal recessive disorder associated with hemolytic anemia, marked basophilic stippling, and accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Recently, the structure and location of the P5N-I gene have been published. This paper presents the results of a study characterizing the molecular pathologies of P5N-I deficiency in a total of 6 Turkish patients from 4 unrelated families of consanguineous marriages. Mutation analysis in the P5N-I gene led to the identification of 3 novel mutations in these patients. In 4 patients from 2 families, a homozygous insertion of double G at position 743 was detected in exon 9 (743-744insGG), leading to premature termination of translation 23 bp downstream. In one family, a homozygous T to G transition at position 543 (543T>G) in exon 8 resulted in the replacement of tyrosine (Tyr) with a stop codon (Tyr181Stop). In another family, a homozygous insertion of a single A in exon 7 (384-385insA) created a stop signal at the codon nearby. In all families, the parents were heterozygous for the relevant mutations. None of these changes was detected in 200 chromosomes from a healthy Turkish population. These mutations were not correlated with any particular phenotype.
authors.affiliation: Hacettepe University, Faculty of Medicine, Department of Pediatrics, Institute of Child Health and Section of Pediatric Hematology, 06100, Ankara, Turkey. gbalta@hacettepe.edu.tr
authors.forename: Gunay
authors.initials: G
authors.lastname: Balta
authors.forename: Fatma
authors.initials: F
authors.lastname: Gumruk
authors.forename: Nurten
authors.initials: N
authors.lastname: Akarsu
authors.forename: Aytemiz
authors.initials: A
authors.lastname: Gurgey
authors.forename: Cigdem
authors.initials: C
authors.lastname: Altay
mesh_terms: D015720:5'-Nucleotidase / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000745:Anemia, Hemolytic, Congenital / Q000201:enzymology* / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005808:Genes, Recessive; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D017354:Point Mutation; D016385:TATA Box / Q000235:genetics; D014421:Turkey
chemical_list: D015720:5'-Nucleotidase