Genetics SL Flashcards
Gene
A sequence of DNA that encodes for a specific trait
Locus
The position of a gene on a particular chromosome
Allele
Alleles are alternative forms of a gene that code for the different variations of a specific trait
Gene mutation
A gene mutation is a change in the nucleotide sequence of a section of DNA coding for a specific trait
Neutral mutations
Neutral mutations have no effect on the functioning of the specific feature (silent mutations)
Detrimental mutations
truncate the gene sequence (nonsense mutations) to block the normal function of a trait
Beneficial mutations
Beneficial mutations change the gene sequence (missense mutations) to create new variations of a trait
Cause of Sickle Cell Anaemia
Sickle cell anaemia results from a change to the 6th codon for the beta chain of haemoglobin
Polypeptide: The sixth amino acid for the beta chain of haemoglobin is changed from glutamic acid to valine (Glu to Val)
Consequence of Sickle Cell Anaemia
The amino acid change (Glu → Val) alters the structure of haemoglobin, causing it to form insoluble fibrous strands
The insoluble haemoglobin cannot carry oxygen as effectively, causing the individual to feel constantly tired
The formation of fibrous haemoglobin strands changes the shape of the red blood cell to a sickle shape
The sickle cells may form clots within the capillaries, blocking blood supply to vital organs and causing myriad health issues
The sickle cells are also destroyed more rapidly than normal cells, leading to a low red blood cell count (anaemia)
What is a genome?
The genome is the totality of genetic information of a cell, organism or organelle
What is The Human Genome Project (HGP) and what were the 4 outcomes?
The Human Genome Project (HGP) was an international cooperative venture established to sequence the human genome
The HGP showed that humans share the majority of their sequence, with short nucleotide polymorphisms contributing diversity
The completion of the Human Genome Project in 2003 lead to many outcomes:
Mapping – The number, location, size and sequence of human genes is now established
Screening – This has allowed for the production of specific gene probes to detect sufferers and carriers of genetic diseases
Medicine – The discovery of new proteins have lead to improved treatments (pharmacogenetics and rational drug design)
Ancestry – Comparisons with other genomes have provided insight into the origins, evolution and migratory patterns of man
Where is genetic material in prokaryotes
Genetic material is found free in the cytoplasm in a region called the nucleoid
What is the genetic material in prokaryotes?
The genetic material of a prokaryote consists of a single chromosome consisting of a circular DNA molecule (genophore)
The DNA of prokaryotic cells is naked – meaning it is not associated with proteins for additional packaging
(Prokaryotic cells may possess additional circular DNA molecules called plasmids)
What are plasmids?
Plasmids are small, circular DNA molecules that contain only a few genes and are capable of self-replication
Organisation of eukaryotic chromosomes
DNA is complexed with eight histone proteins (an octamer) to form a complex called a nucleosome
Nucleosomes are linked by an additional histone protein (H1 histone) to form a string of chromatosomes
These then coil to form a solenoid structure (~6 chromatosomes per turn) which is condensed to form a 30 nm fibre
These fibres then form loops, which are compressed and folded around a protein scaffold to form chromatin
Chromatin will then supercoil during cell division to form chromosomes that are visible (when stained) under microscope
What is a chromosone and describe its structure
Chromosomes are linear molecules of DNA that are compacted during cell division (mitosis or meiosis)
Each chromosome has a constriction point called a centromere, which divides the chromosome into two sections (or ‘arms’)
The shorter section is designated the p arm and the longer section is designated the q arm
What are homologous chromosomes?
Maternal and paternal chromosome pairs are called homologous chromosomes
Homologous chromosomes are chromosomes that share:
The same structural features (e.g. same size, same banding patterns, same centromere positions)
The same genes at the same loci positions (while the genes are the same, alleles may be different)
Why must Homologous chromosomes be separated in gametes prior to reproduction?
Homologous chromosomes must be separated in gametes (via meiosis) prior to reproduction, in order to prevent chromosome numbers continually doubling with each generation
What is a diploid nucleus?
Nuclei possessing pairs of homologous chromosomes are diploid (symbolised by 2n)
These nuclei will possess two gene copies (alleles) for each trait
All somatic (body) cells in the organism will be diploid, with new diploid cells created via mitosis
Diploid cells are present in most animals and many plants
What is a haploid nucleus?
Nuclei possessing only one set of chromosomes are haploid (symbolised by n)
These nuclei will possess a single gene copy (allele) for each trait
How is sex determined in humans?
Sex is determined by a pair of chromosomes called the sex chromosomes (or heterosomes)
Females possess two copies of a large X chromosome (XX)
Males possess one copy of an X chromosome and one copy of a much shorter Y chromosome (XY)
With is a Autosome?
A chromosone which doesnt determin sex
What is a karyotype?
Karyotypes are the number and types of chromosomes in a eukaryotic cell
How do you make a karyogram?
1.Harvesting cells (usually from a foetus or white blood cells of adults)
2.Chemically inducing cell division, then arresting mitosis while the chromosomes are condensed
3. The chromosomes are stained and photographed to generate a visual profile and the chromosomes are arranged into homologous pairs according to size