Objectives: To localize the gene(s) responsible for autosomal dominant hypocalcified amelogenesis imperfecta(AI),we evaluated support for/agsinst linkage of AI to genetic markers spanning five AI candinate genes in a Shandong-Dezhou family. Methods: Blood samples were collected from 21 family members. We selected 9 short-tandom-repeat-polymorphisms(STRPs) spanning five AI candidate genes in the family. We evaluated support for / against linkage of AI to genetic marker using polymerase chain reaction(PCR) and 6% denaturing polyacryamide gels eletroph. Results: The pedigree analysis and the patients' clinical features indicated autosomal-dominant hypocalcified AI. 19 of 21 informative family members participate in the linkage analysis. Genotypes of 9 STRPs were acquired, and none was linked with the responsible gene. Conclusion: In the family our data excluded all the candidate genes regions which were previously proposed as reason for autosomal dominant hypocalcified amelogenesis imperfecta. In additional, the data indicates that genetic heterogeneity among families with autosomal dominant AI and at least some forms of autosomal dominant hypocalcified AI are not caused by a gene in the five proposed candidate genes.
Division: Chinese Division Meeting
Meeting:2005 Chinese Division Meeting (Shanghai, China) Location: Shanghai, China
Year: 2005 Final Presentation ID: Abstract Category|Abstract Category(s):Scientific Groups
Authors
Wang, Xijun
( Sichuan University, chengdu, N/A, China
)
Ji, Ping
( shandong university, jinan, N/A, China
)
Yi, Xinzhu
( Sichuan University, chengdu, N/A, China
)
Guo, Hongmei
( shandong university, jinan, N/A, China
)