Vasudev, Joyti (2014). A study of non-syndromic hypodontia in a high risk population. University of Birmingham. M.Phil.
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Vasudev14MPhil.pdf
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Abstract
Aim
Investigate autosomal recessively inherited forms of severe hypodontia in a consanguineous population.
Background
Severe hypodontia maybe associated with an autosomal recessive mode of inheritance. The frequency of such disorders increases in populations with intermarriage between blood relatives. Individuals with severe hypodontia and parental consanguinity were studied to determine features of an autosomal recessively inherited disorder.
Materials and Methods
10 families with a known history of consanguinity were interviewed. Families originating from a Pakistani or Bangladeshi background have a high frequency of parental consanguinity. A search through the Birmingham Dental Hospital database identified Muslim family names. A family pedigree was drawn and blood samples collected. Dental examination revealed severe hypodontia in at least one individual from each family. Genetic analysis was used to identify autosomal recessive gene mutations.
Results
Dental anomalies including microdontia, taurodont molars, hypoplasia of the enamel, infraocclusion, shortened dental roots and ectopic teeth were recorded, as well as the typical facial traits. The pattern of dental agenesis demonstrated heterogeneity and appeared to be more varied than that described previously.
Conclusion
Four out of the ten families had affected members of the family, supporting a genetic basis for the severe hypodontia. This supports a basis for molecular genetic studies to define the exact genetic cause of the disorder.
Type of Work: | Thesis (Masters by Research > M.Phil.) | |||||||||
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Award Type: | Masters by Research > M.Phil. | |||||||||
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College/Faculty: | Colleges (2008 onwards) > College of Medical & Dental Sciences | |||||||||
School or Department: | School of Clinical and Experimental Medicine | |||||||||
Funders: | None/not applicable | |||||||||
Subjects: | R Medicine > RJ Pediatrics R Medicine > RK Dentistry |
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URI: | http://etheses.bham.ac.uk/id/eprint/5175 |
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