Glucose-6-phosphate dehydrogenase deficiency: molecular heterogeneity in southeast Asian countries.
Southeast Asian J Trop Med Public Health
;
2003 ; 34 Suppl 3(): 127-9
Artigo
em Inglês
| IMSEAR
| ID: sea-36163
ABSTRACT
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is common in malaria endemic regions and is estimated to affect more than 400 million people worldwide. Deficient subjects are mostly asymptomatic but clinical manifestations range from neonatal jaundice due to acute hemolytic anemia to chronic non-spherocytic hemolytic anemia. To date, biochemical parameters allowed more than 400 different G6PD variants to be distinguished thereby suggesting a vast genetic heterogeneity. So far, only a small portion of this heterogeneity has been confirmed at the DNA level with the identification of about 90 different point mutations in the G6PD coding sequence. To determine the molecular background of G6PD deficiency in Southeast Asian countries, we conducted molecular analyses of G6PD patients from the Philippines, Malaysia, Singapore, Vietnam and Indonesia. The most prevalent mutation identified differs from country to country, thus suggesting independent mutational events of the G6PD gene.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Sudeste Asiático
/
Humanos
/
Recém-Nascido
/
Análise Mutacional de DNA
/
Triagem Neonatal
/
Heterogeneidade Genética
/
Doenças Endêmicas
/
Reação em Cadeia da Polimerase Via Transcriptase Reversa
/
Povo Asiático
/
Frequência do Gene
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Southeast Asian J Trop Med Public Health
Ano de publicação:
2003
Tipo de documento:
Artigo
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