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Genetic heterogeneity in X-linked amelogenesis imperfecta
M J Aldred1, P J Crawford, E Roberts
1Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, United Kingdom.
Genomics
|November 1, 1992
Summary
The AMELX gene is linked to X-linked amelogenesis imperfecta (XAI) in two of three families studied. This genetic linkage analysis confirms AMELX
Area of Science:
- Genetics
- Molecular Biology
- Dental Genetics
Background:
- X-linked amelogenesis imperfecta (XAI) is an inherited dental disorder.
- The AMELX gene, encoding amelogenin, is a candidate gene for XAI.
Purpose of the Study:
- To investigate the genetic linkage of AMELX to XAI in affected families.
- To determine the precise location of the XAI locus.
Main Methods:
- Linkage analysis using polymorphic DNA markers flanking the AMELX gene.
- Two-point and multipoint linkage analyses were performed.
- Recombination events were studied to refine locus mapping.
Main Results:
- Significant linkage between XAI and AMELX markers (DXS16) was established in two families (lod score 6.05).
- Multipoint analysis localized the XAI locus (AIH1) distal to DXS16.
- Evidence for locus heterogeneity was found in the third family.
- Linkage to markers on the X chromosome long arm (DXS144E, F9) was observed in one family.
Conclusions:
- The AMELX gene is implicated in XAI in the studied families.
- Locus heterogeneity exists for X-linked amelogenesis imperfecta.
- Further mapping refined the potential location of the AIH1 locus.