Genotype/phenotype association in indian congenital aniridia.
Indian J Pediatr
;
2009 May; 76(5): 513-517
Artigo
em Inglês
| IMSEAR
| ID: sea-142199
ABSTRACT
The developmental birth eye disorder of iris is known as aniridia. Heterozygous PAX6 gene, which causes human aniridia and small eye in mice, is located on chromosome 11p13. The variability had been documented between the affected individuals within the families, is due to genotypic variation. Haploinsufficiency renders PAX6 allele non-functional or amorphic, however it presents hypomorphic or neomorphic alleles. India is not a well-studied ethnic group, hence the focus on congenital aniridia gene analysis supports the literature and the phenotypic association were analysed both in sporadic as well as familial. The consistent association of truncating PAX6 mutations with the phenotype is owing to non-sensemediated decay (NMD). It is presumed that the genetic impact of increased homozygosity and heterozygocity in Indian counter part arises as the consequence of consanguineous marriages. The real fact involved in congenital aniridia with other related phenotypes with PAX6 mutations are still controversial.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Fenótipo
/
Feminino
/
Humanos
/
Masculino
/
Recém-Nascido
/
Aniridia
/
Pré-Escolar
/
Testes Genéticos
/
Triagem Neonatal
/
Medição de Risco
Tipo de estudo:
Estudo de etiologia
/
Estudo prognóstico
/
Fatores de risco
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Indian J Pediatr
Ano de publicação:
2009
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS