Theme 1 Quiz Flashcards
A suffix denoting dilatation
Ectasis
Most common type of autopsy
Coroners
A USA city whose name is given to a leukaemia-causing chromosomal rearrangement.
Philidelphia
A reduction in the number of blood cells
Cytopenia
Okazaki fragments take part in which process to do with DNA?
Replication
The sequencing technology used in the human genome mapping project
Sanger
A unit of chromatin, comprising about 200 bp of DNA wound around a histone core
Nucleosome
What does the “ectasis” in bronchiectasis mean?
Dilation
That part of a gene whose sequence is represented in the mature mRNA
Exon
A subtype of B cell that are formed within germinal centre following primary infection and can survive for decades and repeatedly generate an accelerated and robust antibody-mediated immune response
Memory
The abnormal development or degeneration of a tissue
The traditional method of studying large scale genome pathology such as translocation, gene duplication etc by examining the complete set of metaphase chromosomes using G-banding.
Karyotyping
An individual version or genetic variant at a particular locus.
allele
A genetic change
Mutation
Category of death that must be reported to the coroner
unnatural
An organism that is a common cause of prosthetic joint infection
staphylococcus epidermiidis
Mechanisms through which the aetiology of a disease produces its clinicopathological effects
Pathogenesis
This term is used to refer to increasing severity of an inherited disease as it passes down successive generations.
Anticipation
A malignant epithelial tumour
Carcinoma
An evolutionary remnant, in the form of a DNA sequence that resembles a gene elsewhere in the genome, but has mutations that appear to render it inactive.
Pseudogene
Aetiology is the study of what aspect of disease?
Cause
Vertical (parent to child) inheritance of a disorder is typically seen for autosomal ——– conditions
Dominant
An aspect of family structure that increases the risk of autosomal recessive disease.
Consanguinity
What is the study of the incidence and population distribution of disease called?
Epidemiology
A term used to describe how a genetic change manifests itself.
Phenotype
Shape of the mitochondrial genome
circular
A condition that is encountered by the haematologist where the patients could present with bleeding into joints
haemophilia
This region of the chromosome separates the short and long arms
Centromere
