Gene screening in five Chinese families with hereditary spastic paraplegia with thin corpus callosum / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 677-680, 2007.
Article
Dans Chinois
| WPRIM
| ID: wpr-229846
ABSTRACT
<p><b>OBJECTIVE</b>To screen all ten genes between D15S971 and D15S1012 in five Chinese families with hereditary spastic paraplegia with thin corpus callosum (HSP-TCC).</p><p><b>METHODS</b>DNA samples from 5 HSP-TCC families were screened for mutations in AK128197, MGC14798, HH114, MEIS2, MGC35118, SPRED1, AK128458, FLJ38426, RASGRP1 and AK093014 on chromosome 15q13-15 between microsatellites D15S971 and D15S1012 by polymerase chain reaction, direct sequencing and cosegreagation analysis.</p><p><b>RESULTS</b>No disease-causing mutations were found in the 10 genes, but 13 polymorphisms were identified in which two were novel.</p><p><b>CONCLUSION</b>This study did not support the ten genes between D15S971 and D15S1012 were the disease-causing genes of the 5 HSP-TCC families.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Anatomopathologie
/
Chromosomes humains de la paire 15
/
Paraplégie spasmodique héréditaire
/
Corps calleux
/
Paraparésie spastique
/
Asiatiques
/
Gènes récessifs
/
Génétique
Type d'étude:
Etude diagnostique
/
Étude de dépistage
Limites du sujet:
Adulte
/
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2007
Type:
Article
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