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Molecular genetics of complex craniofacial disorders

Kelberman, Daniel; (2002) Molecular genetics of complex craniofacial disorders. Doctoral thesis (Ph.D), UCL (University College London). Green open access

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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.

Type: Thesis (Doctoral)
Qualification: Ph.D
Title: Molecular genetics of complex craniofacial disorders
Open access status: An open access version is available from UCL Discovery
Language: English
Additional information: Thesis digitised by ProQuest.
Keywords: Biological sciences; Hemifacial microsomia
URI: https://discovery.ucl.ac.uk/id/eprint/10100631
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