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CLINICAL AND MOLECULAR GENETIC STUDIES ON FAMILIES WITH INHERITED
DENTAL ANOMALIES
by
Jason M Gee
A Thesis Presented to the
FACULTY OF THE GRADUATE SCHOOL
UNIVERSITY OF SOUTHERN CALIFORNIA
In Partial Fulfillment of the
Requirements for the Degree
MASTER OF SCIENCE
(CRANIOFACIAL BIOLOGY)
December 2007
Copyright 2007 Jason M Gee
Object Description
| Title | Clinical and molecular genetic studies on families with inherited dental anomalies |
| Author | Gee, Jason M. |
| Author email | jasongee@usc.edu |
| Degree | Master of Science |
| Document type | Thesis |
| Degree program | Cranio-Facial Biology |
| School | School of Dentistry |
| Date defended/completed | 2007-07-06 |
| Date submitted | 2007 |
| Restricted until | Unrestricted |
| Date published | 2007-12-11 |
| Advisor (committee chair) | Patel, Pragna |
| Advisor (committee member) |
Paine, Michael Snead, Malcolm |
| Abstract | Of 1300 candidates screened to find cases of heritable non-syndromic hypodontia and supernumerary teeth (ST), twenty-five hypodontia and fourteen supernumerary families were found. A family of seventeen members, fourteen of whom exhibited autosomal dominant molar hypodontia with some lateral incisor involvement was identified. The trait was genetically linked to a PAX9 locus on chromosome 14. Efforts resulted in the identification of a novel type of mutation (g.-1258C>T SNP) upstream of the PAX9 gene in a noncoding region.; A second large family of 33 members, four of whom presented with an autosomal recessive rare supernumerary mandibular incisor, was ascertained. 500K SNP arrays were used among affected family members in an effort to map a causative autozygous region that segregated with the phenotype, with limited results. An autozygosity scan of fourteen unaffected relatives and four affected individuals, and a concurrent linkage analysis using 10K SNP data is underway with results pending. |
| Keyword | hypdontia; supernumerary teeth; genetics; linkage studies; microarray; SNP; single nucleotide polymorphism; mutation |
| Language | English |
| Part of collection | University of Southern California dissertations and theses |
| Publisher (of the original version) | University of Southern California |
| Place of publication (of the original version) | Los Angeles, California |
| Publisher (of the digital version) | University of Southern California. Libraries |
| Type | texts |
| Legacy record ID | usctheses-m976 |
| Rights | Gee, Jason M. |
| Repository name | Libraries, University of Southern California |
| Repository address | Los Angeles, California |
| Repository email | http://www.usc.edu/isd/libraries/services/ask_a_librarian/email/ |
| Filename | etd-Gee-20071211 |
| Archival file | uscthesesreloadpub_Volume14/etd-Gee-20071211.pdf |
Description
| Title | Page 1 |
| Full text | CLINICAL AND MOLECULAR GENETIC STUDIES ON FAMILIES WITH INHERITED DENTAL ANOMALIES by Jason M Gee A Thesis Presented to the FACULTY OF THE GRADUATE SCHOOL UNIVERSITY OF SOUTHERN CALIFORNIA In Partial Fulfillment of the Requirements for the Degree MASTER OF SCIENCE (CRANIOFACIAL BIOLOGY) December 2007 Copyright 2007 Jason M Gee |
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