RESUMO
Objective. To detect subtelomeric copy number variations (deletions and duplications) using Multiplex Ligation-Dependent Probe Amplification (MLPA) technique in children with idiopathic mental retardation. Methods. All children presenting to the genetics out-patient department for evaluation of mental retardation or developmental delay over a period of two years, for whom no identifiable cause could be found by clinical evaluation, karyotyping, neuroimaging and other relevant investigations. Results. In the present study, two cases deletions and one case of duplication were detected amongst 65 cases with idiopathic mental retardation/ global developmental delay. The overall detection rate is 4.6%. The detection rate is higher (13%) in children with facial dysmorphism. Conclusion. MLPA for subtelomeric regions is recommended for evaluation of children with idiopathic mental retardation/ global developmental delay were included in the study.
Assuntos
Adolescente , Distribuição por Idade , Criança , Pré-Escolar , Intervalos de Confiança , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/genética , Feminino , Seguimentos , Deleção de Genes , Duplicação Gênica , Testes Genéticos/métodos , Humanos , Hibridização in Situ Fluorescente , Incidência , Índia , Lactente , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/genética , Masculino , Técnicas de Amplificação de Ácido Nucleico/métodos , Razão de Chances , Probabilidade , Estudos Prospectivos , Distribuição por Sexo , Telômero/genéticaRESUMO
The pathogenesis of Crohn's disease (CD) involves an abnormal immune response to enteric bacteria in genetically susceptible individuals. There are no family studies regarding the association of CD with human leucocyte antigens (HLA) class II. In the present study, we have studied the association of HLA class II antigens in patients with CD and their first-degree relatives. Nine patients with CD and their first-degree relatives were studied. A group of 110 healthy unrelated and ethnically matched subjects were used as controls. Molecular HLA typing was done using the sequence-specific primer-based method. The transmission disequilibrium test (TDT) was used to analyze the results. A total of 65 individuals were included in the study; 52/56 first-degree relatives (92.8%) of 9 patients with CD consented to the study. The median age of patients was 40 years. When the distribution of the HLA class II antigens in patients was compared to that in controls no significant differences were observed even after applying the Yates correction. As the sample size of the population was small, the association of CD with DR and DQ alleles was further analyzed by using the TDT. Even after applying TDT, no significant association was observed. Familial aggregation of CD is uncommon in India. Crohn disease is not associated with HLA class II antigens in Indian patients. Genes of the major histocompatiblity complex are likely to contribute little to the susceptibility to Crohn disease in Indian patients.