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.
Article
Dans Chinois
| 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>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Ostéogenèse imparfaite
/
Anatomopathologie
/
Pedigree
/
Syndrome
/
Malformations multiples
/
Chromosomes humains de la paire 11
/
Santé de la famille
/
Cartographie chromosomique
/
Répétitions microsatellites
/
Prédisposition génétique à une maladie
Limites du sujet:
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2003
Type:
Article
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