Your browser doesn't support javascript.
loading
Montrer: 20 | 50 | 100
Résultats 1 - 2 de 2
Filtre
1.
Journal of Zhejiang University. Medical sciences ; (6): 255-259, 2005.
Article Dans Chinois | WPRIM | ID: wpr-355230

Résumé

<p><b>OBJECTIVE</b>To detect gene mutations associated with autosomal dominant congenital stationary night blindness(ADCSNB) in a large Chinese family.</p><p><b>METHODS</b>Genomic DNAs were extracted from peripheral blood samples of 16 affected and 14 unaffected family members. According to 5 missense mutations in 3 genes reported previously, 4 pairs of primers were designed and corresponding exons containing the five mutation sites were amplified by polymerase chain reaction. Amplified products were purified and sequenced by MegaBACE1000 capillary array electrophoresis DNA sequencer. Full field electroretinogram (ERG, ISCEV) of patients was recorded and analyzed by Roland Consult System.</p><p><b>RESULTS</b>Dark-adapted ERG showed a-wave was normal, but b-wave of the patients was markedly decreased. None of the five missense mutations were detected in 16 affected and 14 unaffected family members.</p><p><b>CONCLUSION</b>The molecular pathogenesis of ADCSNB in this family does not involve point mutations or deletions of these five sites, which indicates the heterogeneity of ADCSNB.</p>


Sujets)
Adulte , Femelle , Humains , Mâle , Séquence nucléotidique , Analyse de mutations d'ADN , Données de séquences moléculaires , Héméralopie , Génétique , Pedigree , Mutation ponctuelle
2.
Journal of Zhejiang University. Science. B ; (12): 798-802, 2005.
Article Dans Anglais | WPRIM | ID: wpr-249134

Résumé

Effects of dietary supplementation with fructooligosaccharides on the excretion of nitrogen and phosphorus in Miichthys miiuy fries were investigated. Nine hundred Miichthys miiuy fries were divided into 3 groups, each with triplicates. The basal diet and the basal diet supplemented with carnitine groups were considered as the negative and positive controls respectively. Results showed that the nitrogen concentration in excreted feces decreased significantly in fries fed the diet supplementation with 1000 x 10(-6) fructooligosaccharides and 200 x 10(-6) carnitine (P<0.05). The ammonic-nitrogen concentration decreased significantly in the carnitine group only (P<0.05), indicating the decreasing tendency caused by the supplementation with fructooligosaccharides. Supplementation with both did not have significant effects on the concentration of phosphorus in feces of Miichthys miiuy fries.


Sujets)
Animaux , Administration par voie orale , Compléments alimentaires , Fèces , Poissons , Métabolisme , Azote , Métabolisme , Oligosaccharides , Phosphore , Métabolisme
SÉLECTION CITATIONS
Détails de la recherche