Screening for homozygosity by descent in families with autosomal recessive retinitis pigmentosa.
J Genet
;
2002 Aug; 81(2): 59-63
Artigo
em Inglês
| IMSEAR
| ID: sea-114308
ABSTRACT
Retinitis pigmentosa (RP) is a genetically heterogeneous disease and an important cause of blindness in the state of Andhra Pradesh in India. In an attempt to identify the disease locus in families with the recessive form of the disease, we used the approach of screening for homozygosity by descent in offspring of consanguineous and nonconsanguineous families with RP. Microsatellite markers closely flanking 21 known candidate genes for RP were genotyped in parents and affected offspring to determine whether there was homozygosity at these loci that was shared by affected individuals of a family. This screening approach may be a rapid preliminary method to test known loci for possible cosegregation with disease.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Humanos
/
Retinose Pigmentar
/
Testes Genéticos
/
Heterogeneidade Genética
/
Repetições de Microssatélites
/
Genes Recessivos
/
Homozigoto
/
Índia
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
J Genet
Ano de publicação:
2002
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS