IMMS Flashcards
What is the protein in tight junctions?
Occludins
What is the type of protein in adhering junctions?
(E-) Cadherins
What is the transmembrane protein in desmosomes?
Cadherin - e.g. Desmogeins & desmocollins
What is the intermediate filament in epithelial desmosomes?
Keratin
What is the intermediate filament in desmosomes in cardiac cells?
Desmin
What is the transmembrane protein in hemidesmosomes?
Integrin
What is the name of the channel between gap junctions?
Connexon - formed from connexins
What is gametogenesis?
Formation of mature haploid gametes.
This is either through meitotic division of diploid cells or mitotic division of haploid cells
What is Mendel’s second law?
Law of Independent assortment:
Biological selection of an allele has no affect on the selection of another allele
What is the definition of homeostasis?
The state of equilibrium (balance between opposing pressures) in the body with respect to various functions and to chemical compositions of the fluids and tissues.
Essentially, the mechanism in which the body maintains a regulated and stable internal environment
What is the total water content of the body in litres for an average 70kg man?
42L
What is the average water content in litres of the intracellular fluid?
28L
What is the average water content of extra cellular fluid in litres?
14L
What are the two types of extra cellular fluid?
1) interstitial fluid
2) blood plasma
What is the definition of penetrance?
The proportion of people with a gene/genotype which show the expected phenotype.
Can be:
Complete - expresses by all in that genetic population
Incomplete - expressed by only parts of that population
What is an allele?
One of several alternative forms of a gene at a specific locus
What is variable expression?
Variation in clinical features (type & severity) of a genetic disorder between individuals with the same gene alteration
What is sex limitation?
Where the expression of a particular characteristic is limited to one of the sexes
What is meant by genotype?
The genetic constitution of an individual
What is meant by phenotype?
The appearance of an individual which is down to a combination of environmental & genetic factors
What is an autosomal dominant genetic disorder?
A disease that can manifest in a heterozygous state - only one allele needed as it is dominant.
If one parent has an autosomal dominant condition what are the chances the offspring have the condition?
50%
What is a common example of an autosomal dominant condition?
Huntigtons
What is meant by an autosomal recessive disease?
A disease that can only manifest in a homozygous state - two of the alleles are needed