[Exclusion of candidate genes in a family with amelogenesis imperfecta].
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 (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.


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.


CONCLUSIONS
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.
Wang
Xi-Jun
XJ
Key Laboratory of Oral Biomedical Engineering of Ministry of Education, Sichuan University, Chengdu 610041, China.
Ji
Ping
P
Guo
Hong-Mei
HM
Yi
Xin-Zhu
XZ
D000567:Amelogenesis Imperfecta; D003746:Dental Enamel Proteins; D005838:Genotype; D006801:Humans; D010375:Pedigree
D003746:Dental Enamel Proteins