IMMS (summary Sheets) Flashcards
What is the structure of DNA?
- Double helix
- Complimentary base pairs (A - T & G - C)
- Coils around nucleosomes —> supercoils —> chromosomes
What is a autosome?
Any chromosome which isn’t sex determining
How many pairs of chromosomes are there in humans?
22 pairs of autosomes & a pair of sex chromosomes
What are the sex chromosomes in males and females?
XY - males
XX - female
Define karyotype
Number and appearance of chromosomes in a cell
What does each chromosome contain?
A continuous DNA duplex of 10^7 base pairs and contains several hundred genes
How many genes does each individual have?
30,000
What is the structure of a chromosome?
Has a long arm (q) and a short arm (p) separated by a centromere
What is the purpose of mitosis?
To produce 2 daughter cells, genetically identical to parent cells
What is mitosis used for?
Growth and to replace dead cells
What is the DNA structure called when not in replication?
Chromatin
What is the DNA structure called when in replication?
Chromosomes
What is the DNA structure called when after replication?
Chromatids
What must happen for mitosis to occur?
The cell must be in cell cycle - interphase
What is the longest phase of mitosis?
Interphase
What happens in G1 of interphase?
- No visible activity
- Rapid growth
- Normal metabolic function
- New organelles produced
- Protein synthesis of proteins involved in spindle formation
What happens in S (synthesis) of interphase?
- DNA doubles through DNA replication
- Histone proteins double through protein synthesis (2x as much DNA at end of S)
- Centrosome replication
What happens in G2 of interphase?
- Chromosomes condense (coil up and become visible)
- Energy stores accumulate
- Mitochondria and centrioles double
What happens in prophase in mitosis?
- Chromatin condenses into chromosomes
- Centrosomes nucleate microtubules and move to opposite poles of nucleus
What happens in prometaphase in mitosis?
- Nuclear membrane breaks down
- Microtubules invade nuclear space
- Chromatids attach to microtubules
- Cell no longer has a nucleus
What happens in metaphase in mitosis?
- Chromosomes line up along equatorial plane (metaphase plate)
What happens in anaphase in mitosis?
- Sister chromatids separate, and are push to opposite poles of the cells, centromere first, as spindle fibres contract
What happens in telophase in mitosis?
- Nucelar membrane reforms
- Chromosomes unfold into chromatin
- Cytokinesis begins
What happens in cytokinesis in mitosis?
- Cell organelle become evenly distributed around each nucleus
- Cell divides into two daughter cells with a nucleus in each and 46 chromosomes
Histologically, how can you tell if a cell is undergoing mitosis?
If the nucleus is dark and the nuclei are not the same size
When is something defined as malignant?
If there are too many mitotic figures e.g. lots of dark nuclei of different sizes
What are mitotic figures used for?
Determine how bad cancer is - more there are, the worse it is
What differentiates meiosis from mitosis?
Meiosis:
- Only in gametes
- Recombination of genetic material results in genetic diversity
- Two cell divisions
- 4 haploid (HALF number of chromosomes - 23) cells produced, which are genetically distinct from each other and the parent cell
- Not a cycle
What happens in meiosis I?
- Chromosome number is halved
- In prophase I, crossing over occurs between non-sister chromatids (genes sort independently thus if 1 gene switches over, doesn’t mean another one will), resulting in genetic diversity
- In metaphase I, random assortment occurs on the metaphase plate - also resulting in genetic diversity
What happens in meiosis II?
- Sister chromatids separate
- Haploid cells produced
What is the first stage of gametogenesis?
The proliferation of primordial (undifferentiated) germ cells (developing gametes) by mitosis
What is the process of gametogenesis in males?
- Primordial germ cells to lots of mitoses to spermatogonia (mature sperm)
- Some mitosis occurs in embryonic stages to produce primary spermatocytes present at birth
What is the process of gametogenesis in males at puberty?
- Mitosis really begins during puberty and continues throughout life
- Cytoplasm divides evenly
- After meiosis 2 - four equal size gametes
- Millions of mature sperm continually produced
How long does the production of mature sperm take?
60-65 days
How many sperm are there per ejaculate?
100-200 million
What is the process of gametogenesis in females?
- Primordial germ cell to 30 mitoses to oogonia
- Oogonia enter prophase I of meiosis 1 by 8th month of in-utero life
- Process then suspended
What is the process of gametogenesis in females at puberty?
- Cells enter ovulation
- Cytoplasm divides unequally (1 egg and 3 polar bodies - PB apoptose)
- Meiosis I is completed at ovulation (there is 1 big cells 1 small cell each with diploid DNA)
- Then goes on to divide again each (after fertilisation) to form 1 big cell (egg) and 3 small cells (polar bodies)
- Meiosis 2 is only completed if fertilisation occurs
What is non-disjunction?
Failure of chromosome pairs to separate in meiosis I or sister chromatids to separate properly in meiosis II
When does gonadal mosaicism occur?
When precursor germline cells to ova or spermatozoa are a mixture of two or more genetically different cell lines
Gonadal mosaicism mainly causes which genetic problems?
Autosomal dominant or X-linked
What are the 3 causes of diseases?
Genetic, multifactorial and environmental
Give 4 examples of genetic diseases
- Down’s syndrome
- Cystic fibrosis
- Huntington disease
- Haemophilia
Give 4 examples of multifactorial diseases
- Spina bifida
- Cleft lip/palate
- Diabetes
- Schizophrenia
Give 4 examples of environemental diseases
- Poor diet
- Infection
- Drugs
- Accidents
Define autosomal
Chromosomes 1-22, all chromosomes except the sex chromosomes (X/Y)
Define locus
The position of a gene/DNA on the genetic map
Define genotype
Genetic constitution of an individual
Define phenotype
Appearance of an individual which results from the interaction of the environment and the genotype
Define allele
One of several alternative forms of a gene at a specific locus
- Normal allele is also referred to as wild type
- Disease allele carries the pathogenic mutation
Define polymorphism
Frequent hereditary variations at a locus. Doesn’t cause problems. They make you more/less efficient or more/less susceptible to disease
Define consanguinity
Reproductive union between two relatives
Define autozygosity
Homozygous by descent e.g. inheritance of the same mutant allele through two branches of the same family
Define homozygous
Both alleles are the same at a locus
Define heterozygous
Alleles at a locus are different
Define hemizygous
Describes genes that are carried on an unpaired chromosomes. Refers to a locus on an X chromosomes in a male
Define penetrance
Proportion of people with a gene/genotype who show the expected phenotype
Define complete penetrance
Gene or genes for the trait are expressed in all the population
Define incomplete penetrance
The genetic trait is only expressed in parts of the population
Define variable expression
Variation in clinical features (type and severity) of a genetic disorder between individuals with the same gene alteration
Define sex limitation
Expression of a particular characteristic limited to one of the sexes
Define multifactorial condition
Diseases due to a combination of genetic and environmental factors. In relation to family: if a male has condition, then female relatives are more at risk and vice versa (if condition is more prevalent in one sex)
Define late-onset
Condition not manifested at birth
Define congenital onset
Condition manifested at birth
Define autosomal dominant (Mendelian)
- A disease that only manifests in the heterozygous state
- Affects both males and females in equal proportions
- Affected individuals in multiple generations
- Transmission by individuals of both sexes to both sexes
- Only way to pass disease male to male
Define autosomal recessive (Mendelian)
- A disease that manifests in the homozygous state
- Two defective genes required
- Healthy siblings have a 2/3 chance of being carriers
- Male and females affected in equal proportions
Define X-linked (sex-linked) inheritance (Mendelian)
Caused by a mutation in genes on the X-chromosome
Why are X-linked conditions never passed from father to son?
Due to sons getting their X-chromosome from their mother
What are the outcomes to offspring of males with an X-linked condition?
- All daughters are carriers
- All sons are unaffected
- Males can never be carriers
Define lyonisation
The process of X chromosome inactivation
What happens to one of the two X chromosomes in every cell in a female and why?
- It is randomly inactivated early in embryonic development
- To prevent female cells having twice as many gene products compared to males
What happens to the inactive X chromosome in females?
Packaged in heterochromatin (can’t be transcprited)
What causes sporadic cancers?
2 acquired mutations
What causes hereditary cancers?
1 inherited mutation and 1 acquired mutation
What is an ideogram?
Diagrammatic form of chromosome bands, bands are numbered according to distance to centromere
What are the classifications of genetic disease?
- Chromosomal
- Mendelian (autosomal dominant/recessive or X linked)
- Non-traditional e.g. mitochondrial, imprinting, mosaicism
What does a square mean in a genetic pedigree?
Male
What does a circle mean in a genetic pedigree?
Female
What does a coloured-in object mean in a genetic pedigree?
Affected
What is epithelia?
One or more layers of cells that line a body cavity
What are the 3 functions of epithelia?
Protection, absorption or secretion
Name 4 supporting tissues of the body
- Cartilage
- Bones
- Tendons
- Blood
What is the function of supporting tissues?
Structure and protection
What are the three types of muscle?
Smooth, skeletal and heart
What are the 3 broad types of nerves?
Brain, peripheral and visceral
What are the two germ cells?
Ova and sperm
What does haemtoxylin stain and what colour?
Acid things - blue
What colour does eosin stain and what colour?
Alkaline things - pink
What colour does haemotoxylin stain cell nuclei and RNA?
Blue
What colour does eosin stain cytoplasm and colloidal proteins?
Pink
What colour does eosin stain keratin?
Orange/red
What colour does eosin stain extracellular fibres (e.g. collagen and elastic)?
Pink
What doesn’t stain with H&E?
Extra-cellular jelly & fat
What colour does alcian blue stain GAG rich structures?
Blue
Where are GAG rich structures found?
In all connective tissue and extracellular matrix
What colour does alcian blue stain mucous goblet cells?
Blue