[Application of homozygosity mapping to the fine mapping of the osteoporosis-pseudoglioma syndrome locus].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 20(1): 53-5, 2003 Feb.
Article
em Zh
| MEDLINE
| ID: mdl-12579502
ABSTRACT
OBJECTIVE:
To evaluate the role of homozygosity mapping in the fine mapping of the genes responsible for the rare autosomal recessive diseases.METHODS:
Polymerase chain reaction-single sequence length polymorphism was used to genotype the family members from 8 families with osteoporosis-pseudoglioma syndrome(OPS) for 14 polymorphic loci within candidate region. The OPS candidate region was narrowed by searching for homozygous region in affected.RESULTS:
The OPS candidate region was narrowed to a 1 cM interval between D11S1296 and D11S4136.CONCLUSION:
Homozygosity mapping is a powerful method for mapping and narrowing the candidate region of the genes responsible for the rare autosomal recessive diseases.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteogênese Imperfeita
/
Anormalidades Múltiplas
/
Mapeamento Cromossômico
/
Predisposição Genética para Doença
/
Oftalmopatias
Limite:
Female
/
Humans
/
Male
Idioma:
Zh
Ano de publicação:
2003
Tipo de documento:
Article