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1.
Mutat Res ; 828: 111849, 2023 Dec 10.
Artigo em Inglês | MEDLINE | ID: mdl-38134753

RESUMO

BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy affecting millions of individuals worldwide. It is believed that the prevalence of G6PD deficiency in different ethnic populations increases its association with other pathological conditions especially sickle cell anemia (SCA), as they both are well-known adaptations against malaria. Thus, the present study aims to determine the frequency of G6PD deficiency among SCA patients and the association between them in the tribal community (Gond) of Chhattisgarh, India. METHOD: A total of 810 samples from three different age groups i.e., 10-20, 21-30, and 31-40 years were collected from the tribal community (Gond) of Kabirdham district of Chhattisgarh. The frequency of SCA was determined by a slide test followed by cellulose acetate paper electrophoresis and G6PD deficiency by methemoglobin reduction test. Glutathione-S-Transferase (GST) gene polymorphism in sickle celled individuals and variant analysis in G6PD deficient individuals were analyzed by RT-PCR. RESULTS: The frequency of SCA and G6PD deficiency was reported at 9.75% and 17.16% respectively and a high degree of positive correlation between SCA and G6PD deficiency was also found (HbSS-G6PD deficient: r = 0.84, p = .356; HbAS-G6PD deficient: r = 0.89, p = .345). Results of the GST gene revealed that GSTM1 and GSTT1 genes are present in almost all sickled individuals while GSTP1 and GSTP1a exist in the mutated form in a maximum percentage of individuals. G6PD variant analysis also showed that 70% and 60% of individuals have mutated Mahidol and Union variants respectively, while none of the individuals have mutated Chinese variants. CONCLUSION: A high degree of correlation between SCA and G6PD was reported among Gond tribes of Chhattisgarh, India with a high degree of mutated GSTP1, GSTP1a, Mahidol, and Union variants. The study makes it possible to take specific preventive measures concerning the medication of anti-oxidizing drugs.

2.
Gene ; 707: 143-150, 2019 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-31075411

RESUMO

OBJECTIVE: Present study was undertaken to study the association between sickle cell anemia (SCA) and glucose-6-phosphate dehydrogenase (G6PD) deficiency from Sahu and Kurmi population of Durg and Rajnandgaon district of Chhattisgarh, India. METHOD: A random sampling of 1749 individuals was done. SCA and G6PD deficiency was detected by slide test followed by electrophoresis and Enzymatic reaction indicated by change in colour respectively. Further the samples were subjected to analyze glutathione-S-transferase (GST) i.e. GSTM1 and GSTT1 gene polymorphism, variance of G6PD among G6PD deficient samples by PCR-RFLP. Oxidative stress and DNA damage by comet assay was also analyzed. RESULTS: Present finding indicates positive correlation between SCA and G6PD deficiency in Durg and Rajnandgaon district [Durg: (r = 0.92; HbAS-G6PDd and r = 0.56; HbSS-G6PDd) Rajnandgaon: (r = 0.63; HbAS-G6PDd and r = 0.86; HbSS-G6PDd)]. Significant changes (P < 0.05) in antioxidant enzymatic parameters were observed in HbSS and G6PD with sickle positive individual. Assessment of DNA damage by Comet assay considering Head DNA percent, Tail DNA percent, Tail length and Tail moment also showed significant changes (P < 0.05) within all concerned parameters in HbSS and G6PD with sickle positive individual. Analysis of GST gene polymorphism showed that frequency of individuals carrying the GSTM1 null genotype was higher in HbAS (60%) and the frequency of individual carrying the GSTT1 null genotype was found higher in HbSS (66.6%). G6PD variants analysis also confirmed the presence of highest percentage of mutation among G6PD deficient population as compared to control and a positive correlation was observed between G6PD deficiency and mutant variants of G6PD gene [Rajnandgaon: (r = 0.67; G6PDd-Mahidol mutated and r = 0.90; G6PDd-Union mutated) Durg: (r = 0.91; G6PDd-Mahidol mutated and r = 0.01; G6PDd-Union mutated)] . CONCLUSION: Thus present finding indicates positive correlation between SCA and G6PD deficiency in Chhattisgarh, India.


Assuntos
Anemia Falciforme/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Glucosefosfato Desidrogenase/genética , Glutationa Transferase/genética , Anemia Falciforme/genética , Dano ao DNA , Feminino , Genótipo , Deficiência de Glucosefosfato Desidrogenase/genética , Humanos , Índia/epidemiologia , Masculino , Mutação , Estresse Oxidativo , Polimorfismo de Fragmento de Restrição , Traço Falciforme/epidemiologia , Traço Falciforme/genética
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