Exclusion of candidate genes in a family with amelogenesis imperfecta / 华西口腔医学杂志
West China Journal of Stomatology
; (6): 249-252, 2007.
Article
en Zh
| WPRIM
| ID: wpr-249731
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To localize the gene (s) responsible for autosomal dominant hypocalcified amelogenesis imperfecta in a Chinese family.</p><p><b>METHODS</b>A Chinese family which was diagnosed as autosomal dominant hypocalcified amelogenesis imperfecta (AD) was studied. Venous blood from nineteen family members was collected and genomic DNA was extracted from the blood. Eight short tandem repeats (STRs) spanning five hereditary AI candidate genes were selected and linkage analysis between the genetic markers and the disease loci was performed.</p><p><b>RESULTS</b>Genotype of the eight STRs were acquired, the linkage analysis result can not support that the gene for AI pedigrees was linked to ENAM, AMBN, TUF1, KLK4 or MMP-20.</p><p><b>CONCLUSION</b>The results can not support all proposed candidate gene regions as causal for autosomal dominant hypocalcified AI in this family. These linkage findings provide further evidence for genetic heterogeneity among families with autosomal dominant AI and indicate that, at least, some forms of autosomal dominant AI are not caused by a gene in the five most commonly reported AI candidate genes.</p>
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Linaje
/
Proteínas del Esmalte Dental
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Amelogénesis Imperfecta
/
Genotipo
Límite:
Humans
Idioma:
Zh
Revista:
West China Journal of Stomatology
Año:
2007
Tipo del documento:
Article