Genetic linkage analysis and mutation detection in Chinese families with basal cell nevus syndrome / 中华口腔医学杂志
Chinese Journal of Stomatology
;
(12): 596-598, 2006.
Article
Dans Chinois
| WPRIM
| ID: wpr-293038
ABSTRACT
<p><b>OBJECTIVE</b>To study the molecular genetic etiology of a Chinese pedigree with basal cell nevus syndrome.</p><p><b>METHODS</b>The proband and his affected mother and a unaffected individual in the pedigree were chosen and peripheral blood was collected from them for DNA. Direct sequencing was performed to detect the mutations of PTCH gene. In order to further confirm the results of sequence analysis, all available family members were analyzed with genetic linkage analysis using 3 highly polymorphic microsatellite DNA markers in the region of 9q22.3-q31.</p><p><b>RESULTS</b>No mutations of PTCH gene was detected in the proband's mother, one synonymous mutation was detected in the proband. Linkage analysis showed that the Lod scores of the 3 markers were D9S283, Z = -2.11 (theta = 0.00); D9S1690, Z = -2.95 (theta = 0.00); D9S1677, Z = -5.94 (theta = 0.00).</p><p><b>CONCLUSIONS</b>In this pedigree, mutation of PTCH gene is not related to the underlying pathogenesis of the syndrome.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Naevomatose basocellulaire
/
Récepteurs de surface cellulaire
/
Asiatiques
/
Récepteurs patched
/
Récepteur Patched-1
/
Génétique
/
Liaison génétique
/
Mutation
Type d'étude:
Etude diagnostique
Limites du sujet:
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Stomatology
Année:
2006
Type:
Article
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