title: [The C1155G mutation of the red blood cell glucose-6-phosphate dehydrogenase gene in a subject with severe hereditary chronic nonspherocytic anaemia].
abstract: THE AIM of the study is a genetic analysis of hereditary chronic nonspherocytic anaemia in a case, caused by mutation in the glucose-6-phosphate dehydrogenase gene.
  
  
  METHODS
  The activity of G6PD enzyme was established. PCR method and DNA sequencing were implemented for molecular studies. Bioinformatic methods were used to check the effect of the mutation on the enzyme structure.
  
  
  RESULTS
  Direct sequencing of g6pd gene revealed the presence of 1155 C > G mutation which results in cysteine to tryptophan substitution at position 385. Bioinformatic analysis established that this mutation may be responsible for protein destabilization.
  
  
  CONCLUSIONS
  1. G6PD deficiency should be considered in patients with haemolytic anaemia of unknown etiology. 2. Molecular tests are necessary, especially in cases of suspected mutation carriers in G6PD gene.
authors.affiliation: Zakład Genetyki, Instytut Biochemii i Biofizyki PAN, ul. Pawińskiego 5a, 02-106 Warszawa. atka@ibb.waw.pl
authors.forename: Beata
authors.initials: B
authors.lastname: Burzyńska
authors.forename: Anna
authors.initials: A
authors.lastname: Adamowicz-Salach
authors.forename: Danuta
authors.initials: D
authors.lastname: Płochocka
authors.forename: Ewa
authors.initials: E
authors.lastname: Gołaszewska
authors.forename: Iwona
authors.initials: I
authors.lastname: Witos
mesh_terms: D019943:Amino Acid Substitution; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000235:genetics*; D004912:Erythrocytes / Q000201:enzymology*; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male
chemical_list: D005954:Glucosephosphate Dehydrogenase