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Identification of copy number variants associated with renal agenesis using array-based comparative genomic hybridization

Copy Number Variants (CNVs) are defined as DNA segments of 1kb or more in length and present in a variable number of copies in the human genome. It has been recently shown that many human genetic diseases including organ malformations are caused by CNVs in a patient's genome. However, the genetic and molecular basis for Renal Agenesis (RA), which is a medical condition whereby unilateral or bilateral fetal kidneys fail to develop, has not yet been extended to CNV studies. By using array-based Comparative Genomic Hybridization, we are analyzing DNA from patients who have RA in order to identify CNVs that are causative for RA; genes within the CNVs will then be assessed for their potential involvement in RA by altering their dose in Xenopus embryos.

Identiferoai:union.ndltd.org:uiowa.edu/oai:ir.uiowa.edu:etd-1840
Date01 July 2010
CreatorsChen, Beichen
ContributorsManak, John R.
PublisherUniversity of Iowa
Source SetsUniversity of Iowa
LanguageEnglish
Detected LanguageEnglish
Typethesis
Formatapplication/pdf
SourceTheses and Dissertations
RightsCopyright 2010 Beichen Chen

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