Genetics LO Flashcards
Describe the structure and function of DNA
- Long molecules
- Double stranded made of two chains of nucleotides
- nucleotide consists of three subunits: sugar, phosphate, base
- contains genetic material
Describe the structure and function of RNA
- made of ribose sugar, phosphate, base
- A, U, G, C
- present in all living cells
- structurally similar to DNA but is single stranded
- involved in regulating gene expression
Describe the structure and function of genes
- made of bases known as codons
- each codon has a protein
- full set of genes = genome
- decoded by transcription and translation
- code for organisms individual characteristics
Describe the structure and function of chromosome
- tightly coiled strand of DNA around a histone
- most cells contain 46 chromosomes, 23 pairs
- paired copies of genes = homologous chromosomes
- sex cells = haploid
Define the term allele
Multiple versions of the same chromosome
Define the term locus
The place on the chromosome when the gene is located
Define the term genotype
The genetic constitution of an organism
Define the term phenotype
The observed characteristic coded for by the genotype
Define the term homozygous
When two chromosomes are the same
Define the term heterozygous
When the two chromosomes are different
Define the term dominance
Only one allele is required for the characteristic to be expressed in the phenotype
Define the term recessive
Both alleles are are required for the characteristic to be expressed in the phenotype
Define the term co-dominance
Both alleles are dominant to a degree and are both expressed in the phenotype
Define the term homologous chromosomes
Paired copies of the same chromosome
Define the term mutation
An alteration of bases in the genetic code
Define the term autosomal
Chromosomes which aren’t sex chromosomes
Define the term sex chromosomes
Chromosomes that determine your sex, can carry other sex linked characteristics
Rules for a Punnett square
1) write (diploid) genotype of adult of box (usually female on top)
2) write possible genotype
3) write combination in each box to represent
Define the term polygenic
Most often several genes are responsible for any given trait
Define the term multifactorial
When a number of genetic and environmental factors affect the characteristic expressed by the gene
Differentiate between mitosis and meiosis
Mitosis - occurs in all organisms, creates body cells, one cell division, no recombination or crossing over, produces 2 diploid identical daughter cells
Meiosis - occurs in animals, plants + fungi, creates sex cells, two cell divisions, recombination/crossing over in prophase, produces 4 haploid cells, genetically different
Both - creates new cells, follow same steps, begin with one parent cell
Describe antenatal screening tests and their relevance to genetics: sickle cell trait, thalassaemia, Down syndrome, neural tube defects
- Antenatal screening tests find out if your baby has a higher chance of having a genetic condition
- Can be a range of tests including: blood tests and ultrasounds
Describe the role of the genetic counsellor and the specialist service
A genetic counsellor gives you information about how genetic conditions might affect you or your family