Related Experiment Video
Updated: Jul 13, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
[Exclusion of candidate genes in a family with amelogenesis imperfecta]
Xi-Jun Wang1, Ping Ji, Hong-Mei Guo
1Key Laboratory of Oral Biomedical Engineering of Ministry of Education, Sichuan University, Chengdu 610041, China.
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.
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.
More Related Videos
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
08:26Development of Amelogenin-chitosan Hydrogel for In Vitro Enamel Regrowth with a Dense Interface
Published on: July 10, 2014
Related Concept Videos
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Pleiotropy
Epistasis Analysis
Incomplete Dominance
Pedigree Analysis
In-vitro Mutagenesis