New Mutation Linked to Tooth Defect in Chinese Family
Author Information
Author(s): Zhang Xianqin, Chen Lanying, Liu Jingyu, Zhao Zhen, Qu Erjun, Wang Xiaotao, Chang Wei, Xu Chengqi, Wang Qing K, Liu Mugen
Primary Institution: Huazhong University of Science and Technology
Hypothesis
Is there a novel mutation in the DSPP gene associated with type II dentinogenesis imperfecta in a Chinese family?
Conclusion
The mutation p.Pro17Ser in the DSPP gene is responsible for type II dentinogenesis imperfecta in the studied Chinese family.
Supporting Evidence
- The mutation was found in all affected individuals but not in normal family members or 100 controls.
- The Pro17 residue is highly conserved across different species.
- Linkage analysis confirmed that the disease-causing gene is linked to the DSPP gene.
Takeaway
Scientists found a new change in a gene that causes a tooth problem in a family from China. This change makes their teeth look different and not work well.
Methodology
Linkage analysis and direct DNA sequencing were used to identify the mutation in the DSPP gene.
Participant Demographics
The study involved a four-generation Chinese family with 18 living members, including 8 affected individuals.
Digital Object Identifier (DOI)
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