RESUMO
OBJECTIVE: To study occurrence of common mutations in the population of Gujarat and the most prevalent mutation in certain high-risk communities. METHODS: The mutation screening was carried out using ARMS-PCR in children with beta thalassemia. RESULTS: Population screening has identified certain communities like Sindhis, Lohana, Rajputs, and SC/ST/OBC to be at higher risk as compared to others. The most common mutation was IVS 1-5 (G-->C) followed by 619 bp deletions of the total cases coming to Gujarat. CONCLUSION: Molecular evaluation for Thalassemia should be considered for families whose ethnicity indicates origin from high-risk community.
Assuntos
Etnicidade/genética , Testes Genéticos/estatística & dados numéricos , Talassemia beta/genética , Alelos , Análise Mutacional de DNA , Feto , Mutação da Fase de Leitura , Humanos , Índia/epidemiologia , Mutação Puntual , Reação em Cadeia da Polimerase , Diagnóstico Pré-Natal , Prevalência , Deleção de Sequência , Globinas beta/genética , Talassemia beta/diagnóstico , Talassemia beta/epidemiologiaRESUMO
OBJECTIVE: To study occurrence of common mutations in the population of Gujarat and the most prevalent mutation in certain high-risk communities. METHODS: The mutation screening was carried out using ARMS-PCR in children with beta thalassemia. RESULTS: Population screening has identified certain communities like Sindhis, Lohana, Rajputs, and SC/ST/OBC to be at higher risk as compared to others. The most common mutation was IVS 1-5 (G-->C) followed by 619 bp deletions of the total cases coming to Gujarat. CONCLUSION: Molecular evaluation for Thalassemia should be considered for families whose ethnicity indicates origin from high-risk community.