[The C1155G mutation of the red blood cell glucose-6-phosphate dehydrogenase gene in a subject with severe hereditary chronic nonspherocytic anaemia].
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.
Burzyńska
Beata
B
Zakład Genetyki, Instytut Biochemii i Biofizyki PAN, ul. Pawińskiego 5a, 02-106 Warszawa. atka@ibb.waw.pl
Adamowicz-Salach
Anna
A
Płochocka
Danuta
D
Gołaszewska
Ewa
E
Witos
Iwona
I
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
D005954:Glucosephosphate Dehydrogenase