Mapping and Analyzing Breakpoints of a Recurrent Translocation Between Chromosomes 8 and 12 公开
Cozad, Rebecca (2012)
Abstract
Abstract
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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Mapping and Analyzing Breakpoints of a Recurrent Translocation Between Chromosomes 8 and 12 () | 2018-08-28 16:33:30 -0400 |
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