Genetic Diseases Flashcards
In terms of the genetic basis of disease, what is meant when a particular mutated gene is
referred to as being autosomal recessive?
This refers to the fact that the gene does not occur on a sex chromosome (occurs on any
other chromosome) and that it requires both alleles to have that genotype (homozygous)
in order to see the disease phenotype
What are some of the numerical or structural chromosomal abnormalities that can occur?
Provide a brief description of each.
Aneuploidy: an increase or decrease in number of chromosomes
Deletion: part of a chromosome is lost
Duplication: part of the chromosome is duplicated
Inversion: chromosome breaks and reattaches in the opposite orientation
Translocation: movement of a piece of chromosome from one region to another
Ring: two ends of a chromosome join
Provide an example covered in lectures of a disease caused by a chromosomal
translocation.
Chronic myelogenous leukaemia (CML).
What is meant by the term epigenetics?
Epigenetics is the study of heritable changes to the genome that do not alter the sequence of the
DNA but rather affect gene expression. Describe how DNA methylation or histone acetylation
may affect gene expression levels
. Name an epigenetic chemical modification that occurs to DNA and where this occurs.
DNA Methylation,Methylation of cytosines
Which two processes regulating cell proliferation allow for cancer development when
they are perturbed?
Mitosis and apoptosis
There are two main processes that regulate cell proliferation which allow for cancer development
when they are disrupted. Name these two processes
Mitosis and apoptosis
List three hallmarks of cancer
Sustaining proliferative cell signaling, Avoiding apoptosis, and promoting cell growth
Is cancer an induced or inherited genetic disease?
In terms of the genetic basis of disease:
i. What is a tumour suppressor gene?
ii. Give two examples of tumour suppressor genes.
iii. What is a proto-oncogene?
iv. What is an oncogene?
v. Give two examples of oncogenes.
