Material Information |
| Title: |
MSX1 in Cleft Lip and Palate A Genetic Family Study |
| Physical Description: |
Book |
| Language: |
English |
| Creator: |
Bullock, Christina |
| Publisher: |
New College of Florida |
| Place of Publication: |
Sarasota, Fla. |
| Creation Date: |
2008 |
| Publication Date: |
2008 |
Subjects |
| Subjects / Keywords: |
MSX1
Genetics
Cleft Lip
Cleft Palate |
| Genre: |
bibliography ( marcgt )
theses ( marcgt )
government publication (state, provincial, terriorial, dependent) ( marcgt )
born-digital ( sobekcm )
Electronic Thesis or Dissertation |
Notes |
| Abstract: |
Cleft lip with or without cleft palate (CL�P) affects one in approximately 700 to 1000 births in the United States, and is a significant economic and psychological burden on affected families. Orofacial clefts require multiple surgeries throughout a person�s infancy and adolescence, and often call for corrective dentistry, depending on the severity and type of cleft. Researchers carrying out candidate gene studies have sought to find a genetic locus for CL�P to understand the gene-environment interactions involved, and to elucidate the etiology of the disorder in the genome. MSX1, a homeobox gene regulating cell proliferation, has been implicated in a number of genetic studies as a possible contributor to orofacial clefts, and to tooth agenesis in humans and mice. Many genes such as, MSX1, MSX2, IRF6, FGF genes, TBX genes, PVRL1, PAX9, and BMP4, influence craniofacial and tooth development pathways. The goal of the current study was to identify mutations in the MSX1 gene by sequencing three portions of the 2kb gene in a family triad affected by CL�P. The fragments were analyzed by comparison with a reference sequence, accession number: AF426432 (NCBI). A deletion and two point mutations were found in the affected child, but were not considered to be etiologically relevant. |
| Statement of Responsibility: |
by Christina Bullock |
| Thesis: |
Thesis (B.A.) -- New College of Florida, 2008 |
| Electronic Access: |
RESTRICTED TO NCF STUDENTS, STAFF, FACULTY, AND ON-CAMPUS USE |
| Bibliography: |
Includes bibliographical references. |
| Source of Description: |
This bibliographic record is available under the Creative Commons CC0 public domain dedication. The New College of Florida, as creator of this bibliographic record, has waived all rights to it worldwide under copyright law, including all related and neighboring rights, to the extent allowed by law. |
| Local: |
Faculty Sponsor: Gilchrist, Sandra |
Record Information |
| Source Institution: |
New College of Florida |
| Holding Location: |
New College of Florida |
| Rights Management: |
Applicable rights reserved. |
| Classification: |
local - S.T. 2008 B9 |
| System ID: |
NCFE003892:00001 |
|
Material Information |
| Title: |
MSX1 in Cleft Lip and Palate A Genetic Family Study |
| Physical Description: |
Book |
| Language: |
English |
| Creator: |
Bullock, Christina |
| Publisher: |
New College of Florida |
| Place of Publication: |
Sarasota, Fla. |
| Creation Date: |
2008 |
| Publication Date: |
2008 |
Subjects |
| Subjects / Keywords: |
MSX1
Genetics
Cleft Lip
Cleft Palate |
| Genre: |
bibliography ( marcgt )
theses ( marcgt )
government publication (state, provincial, terriorial, dependent) ( marcgt )
born-digital ( sobekcm )
Electronic Thesis or Dissertation |
Notes |
| Abstract: |
Cleft lip with or without cleft palate (CL�P) affects one in approximately 700 to 1000 births in the United States, and is a significant economic and psychological burden on affected families. Orofacial clefts require multiple surgeries throughout a person�s infancy and adolescence, and often call for corrective dentistry, depending on the severity and type of cleft. Researchers carrying out candidate gene studies have sought to find a genetic locus for CL�P to understand the gene-environment interactions involved, and to elucidate the etiology of the disorder in the genome. MSX1, a homeobox gene regulating cell proliferation, has been implicated in a number of genetic studies as a possible contributor to orofacial clefts, and to tooth agenesis in humans and mice. Many genes such as, MSX1, MSX2, IRF6, FGF genes, TBX genes, PVRL1, PAX9, and BMP4, influence craniofacial and tooth development pathways. The goal of the current study was to identify mutations in the MSX1 gene by sequencing three portions of the 2kb gene in a family triad affected by CL�P. The fragments were analyzed by comparison with a reference sequence, accession number: AF426432 (NCBI). A deletion and two point mutations were found in the affected child, but were not considered to be etiologically relevant. |
| Statement of Responsibility: |
by Christina Bullock |
| Thesis: |
Thesis (B.A.) -- New College of Florida, 2008 |
| Electronic Access: |
RESTRICTED TO NCF STUDENTS, STAFF, FACULTY, AND ON-CAMPUS USE |
| Bibliography: |
Includes bibliographical references. |
| Source of Description: |
This bibliographic record is available under the Creative Commons CC0 public domain dedication. The New College of Florida, as creator of this bibliographic record, has waived all rights to it worldwide under copyright law, including all related and neighboring rights, to the extent allowed by law. |
| Local: |
Faculty Sponsor: Gilchrist, Sandra |
Record Information |
| Source Institution: |
New College of Florida |
| Holding Location: |
New College of Florida |
| Rights Management: |
Applicable rights reserved. |
| Classification: |
local - S.T. 2008 B9 |
| System ID: |
NCFE003892:00001 |
|