Mapping and Analyzing Breakpoints of a Recurrent Translocation Between Chromosomes 8 and 12 Open Access

Cozad, Rebecca (2012)

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Mapping and Analyzing Breakpoints of a Recurrent Translocation Between Chromosomes 8 and 12

The recurrent translocation between chromosomes 8 and 12 is responsible for a novel syndrome and its phenotypic characteristics, which include intellectual disability, seizures, macrocephaly, eczema, and obesity. This translocation, which results in trisomy for part of chromosome 12p and monosomy for part of 8p, is mediated by the presence of segmental duplication regions, or regions of highly repetitive sequence between the two chromosomes. Additionally, one of the genes present in this section of 12p, of which there is an extra copy in this translocation, is GNB3, which codes for a G protein subunit and has been found to be an obesity candidate gene. In this research, I worked to map the breakpoint junction sites for seven unrelated patients previously diagnosed with this recurrent unbalanced translocation. I also outline the difficulties inherent to the project, as the breakpoint junctions lie within regions of highly repetitive sequence, and are therefore difficult to capture. Furthermore, I discuss future plans to study the mRNA expression of GNB3 in a mouse model of this translocation as a future project.

Table of Contents

Table of Contents

Index of Figures i

Chapter 1: Background 1

Translocation Overview 1

Segmental Duplications 4
Recurrent Translocations 4
Recurrent Translocation Between Chromosomes 8 and 12 5
Importance of G Proteins and their Functions 7

Chapter 2: Introduction to Experiment 9

Chapter 3: Experimental Design and Methods 10
Primer Design 10
Amplification of Breakpoint Junction 10
Product Cloning 12
Sequencing of Amplicon 13
Analytical Methods 13

Chapter 4: Results 16

Chapter 5: Discussion 19
Future Aims of Project 20

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