关键词: 遗传性, 釉质发育不全, 候选基因, 短串联重复序列, 连锁分析

Abstract:

Objective To localize the gene（s） responsible for autosomal dominant hypocalcified amelogenesis imperfecta in a Chinese family. Methods A Chinese family which was diagnosed as autosomal dominant hypocalcified amelogenesis imperfecta（AI）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. Results 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. Conclusion 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.

Key words: hereditary, amelogenesis imperfecta, candidate genes, short tandem repeat, linkage analysis