Preparing and organizing results from an ENU mutagenesis screen for congenital heart disease for public view

Krise, Cassandra (2013) Preparing and organizing results from an ENU mutagenesis screen for congenital heart disease for public view. Master Essay, University of Pittsburgh.

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Abstract

Congenital heart disease (CHD) is one of the most common birth defects in humans. In addition, CHD is the leading cause of infant death. Ethylnitrosourea (ENU) is used to induce random single nucleotide polymorphisms in mice. Once the mice are have a mutation they are sent to the University of Pittsburgh for analysis to determine if the SNP is associated with cardiovascular defects. Each mutated mouse is used to breed its own mouse line. The ENU screen uses echocardiography, EFIC imaging, necropsy and exome sequencing to determine the phenotypes and genotypes of the mouse lines. The screen has identified novel genes in mice that may be potential causes of CHD in infants. The Bench to Bassinet program is a nationwide program that translates basic science to clinical trials. As part of this program, data gathered by the ENU screen in mice is organized and available to the public through Jackson Labs Mouse Genome Informatics Database. As of March 2013, 123 mouse lines covering many different types of cardiovascular and craniofacial defects have been made available to the public. Public health significance: Approximately 40,000 infants die from CHD each year. This research and this database enables collaboration among many researchers to identify the causal genes of CHD in infants, and hopefully an eventual means of prophylaxis.

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Details

Item Type:	Other Thesis, Dissertation, or Long Paper (Master Essay)
Status:	Unpublished
Creators/Authors:	Creators Email Pitt Username ORCID Krise, Cassandra
Contributors:	Contribution Contributors Name Email Pitt Username ORCID Committee Chair Kammerer, Candace cmk3@pitt.edu CMK3 UNSPECIFIED Committee Member Lo, Cecilia cel36@pitt.edu CEL36 UNSPECIFIED
Date:	16 April 2013
Date Type:	Publication
Access Restriction:	No restriction; Release the ETD for access worldwide immediately.
Publisher:	University of Pittsburgh
Institution:	University of Pittsburgh
Schools and Programs:	School of Public Health > Public Health Genetics
Degree:	MPH - Master of Public Health
Thesis Type:	Master Essay
Refereed:	Yes
Date Deposited:	06 May 2015 20:31
Last Modified:	14 Sep 2024 11:56
URI:	http://d-scholarship.pitt.edu/id/eprint/18447

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