Application of homozygosity mapping to the fine mapping of the osteoporosis-pseudoglioma syndrome locus / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 53-55, 2003.
Artigo
em Chinês
| WPRIM
| ID: wpr-248501
ABSTRACT
<p><b>OBJECTIVE</b>To evaluate the role of homozygosity mapping in the fine mapping of the genes responsible for the rare autosomal recessive diseases.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>The OPS candidate region was narrowed to a 1 cM interval between D11S1296 and D11S4136.</p><p><b>CONCLUSION</b>Homozygosity mapping is a powerful method for mapping and narrowing the candidate region of the genes responsible for the rare autosomal recessive diseases.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Osteogênese Imperfeita
/
Patologia
/
Linhagem
/
Síndrome
/
Anormalidades Múltiplas
/
Cromossomos Humanos Par 11
/
Saúde da Família
/
Mapeamento Cromossômico
/
Repetições de Microssatélites
/
Predisposição Genética para Doença
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2003
Tipo de documento:
Artigo
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