Use this URL to cite or link to this record in EThOS: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.250201
Title: Molecular genetics of complex craniofacial disorders
Author: Kelberman, Daniel
ISNI:       0000 0001 3596 4617
Awarding Body: University of London
Current Institution: University College London (University of London)
Date of Award: 2002
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Abstract:
The aim of this study of the molecular genetics of complex craniofacial disorders was to investigate the contribution of genetics in the development of hemifacial microsomia (HFM). HFM is a variable and complex facial malformation syndrome. The aetiology of HFM is unknown, and the vast majority of cases are sporadic. There is, however, substantial evidence for a genetic involvement in this condition, including rare familial cases exhibiting defined modes of inheritance. As an approach to explore the role of genetics in the development of HFM, both familial and sporadic cases were available to study. Identification of the genes contributing to familial cases provides the best resource for the investigating the underlying molecular pathways involved in the pathogenesis of the condition. A genome wide search for linkage in combination with exclusion of candidate loci in a single large family exhibiting autosomal dominant HFM revealed a locus for HFM on chromosome 14q32. With the aid of the release of the draft human genomic sequence, candidate genes mapping to this region were identified and prioritised for mutation screening on the basis of known physiological function and expression pattern in human and mouse foetal tissues. Throughout the course of this work additional familial cases became available for study. Molecular analysis of candidate loci in these families provided evidence for genetic heterogeneity in HFM.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID: uk.bl.ethos.250201  DOI: Not available
Keywords: Medicine
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