Document Type


Date of Degree

Summer 2010

Degree Name

MS (Master of Science)

Degree In


First Advisor

John R. Manak

First Committee Member

Sarit Smolikove

Second Committee Member

Polly Ferguson


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.


comparative genomic hybridization, copy number variants, renal agenesis


vi, 49 pages


Includes bibliographical references (pages 45-49).


Copyright 2010 Beichen Chen

Included in

Biology Commons