6.2 Flashcards
what is a phenotype
the apperance of a living organism
what is a phenotype influenced by
both its genotype and its environment
What have mutations contributed to
the process of evolution
What is a mutation and what may it involve
it is a change to the genetic material, this may involve changes to the strucutre of DNA or changes to the number or gross strucutre of chromosomes
what may lead to genetic variation
sexual reproduction and mutations
what is a mutagen
a physical or chemical agent that can increase the rate of mutations
What are some examples of mutagens which are physical agents
x-rays, gamma rays, UV lights
What are some examples of mutagens which are chemical agents
benzopyrene (in tobacco smoke), mustard gas, nitrous acid, reactive oxygen species
What are some examples of mutagens which are biological agents
some viruses, transposons (jumping genes, reminents of viral nucelic acid that’s become part of our genome), food contaminants like alcohol or mycotoxins from fungi
What may mutations be
harmful, advantageous or neutral
What are mutations that occur during gamete formation
persistent:they can be transmmitted through many generations without change and random:they are not directed by a need on the part of the organism in which they occur
when do chromosome mutations occur
during meiosis
what are the different types of chromosome mutations
deletion, inversion, translocation, duplication, non-disjunction, aneuploidy, polyploidy
What is deletion in chromosome mutations
part of a chromosome, containing genes and regulatory sequences is lost.
What is inversion in chromosome mutations
a section of a chromosome may break off, turn through 180degress then join again, although all genes still present, some may now be too far away from their regulatory nucelotide sequences to be properly expressed.
What is translocation in chromosome mutations
a piece of 1 chromosome breaks of and becomes attached to another chromosome, this may interfere with the regulation of the genes on the translocated chromosome.
What is duplication in chromosome mutations
a piece of a chromosome may be duplicated, overexpression of genes can be harmful, as too many of certain proteins or gene-regulating nucleic acids may disrupt metabolism
What is non-disjunction in chromosome mutations
1 pair of chromosmes or chromatids fails to separate, leaving 1 gamete with an extra chromosome. When fertilised by a normal haploid gamete, the resulting zygote has 1 extra chromosome. Down-syndrome is caused by non-disjunction.
What is aneuploidy in chromosome mutations
the chromosome number is not an exact multiple of the haploid number for that organism. Sometimes chromosomes or chromatids fail to separate during meiosis.
What is polyploidy in chromosome mutations
if a diploid gamete is fertilised by a haploid gamete, the resulting zygote will be triploid (have 3 sets of chromosomes). The fusion of 2 diploid gametes can make a tetraploid zygote. Many cultivated plants are polyploid (more than 2 sets of chromosomes)
what has genetic variation from sexual reproduction contributed to
evolution
Meiosis produces genetically different gametes, during meiosis what cause this genetic variation
allele suffling (swapping of alleles between non-sister chromatids) during crossing over in prophase 1), 9ndependant assortement of chromosomes in metaphase/anaphase 1 and independent assortment of chromatids in metaphase/anaphase 2
are gametes produced by meiosis individually and genetically similar
no, they are dissimilar
What are gemetes produced by meiosis
individually and geentically dissimilar, they’re haploid, containning 1 of each pair of homologous chromosomes and 1 allele for every gene
what does the random fusion of gametes create
more genetic diversity, any male gamete can combine with any female gamete from an organism of the same species
what does random fertilisation of gametes that are already genetically unique produce
an extensive genetic diversity amoung the offspring
what are some examples of phenotypic variation caused by the environment and not passed through genes
speaking with a regional dialect, a persons offspring doesn’t inherit dialect through their genes, losing a digit or a limb or having a scar following an injury.
what is an example of the environment interacting with genes
if plants kept in dim light after germination or soil has insufficient magnesium, leaves don’t develop enough chlorophyll and are yellow. The plant is then chlorotic, or suffering from chlorosis. The plant can’t photosynthesise. Chlorotic plants have the genotype for making chlorophyll but environmental factors prevent the expression of these genes.
what did mendel publish in 1866
the results of his investigations that would lay the foundation for a branch of biology known as genetics
what did Mendel study
an organism that was easy to grow and, although naturally self-fertilising, was easy to cross-fertilise easily
what did mendel work with
7 characteristics of the pea plant, each characteristic having 2 constrasting traits: stem height, seed shape, seed colour, pod shape, pod colour, flower arrangement, flower colour
what did mendel obtain and keep
true-breeding strains, where the trait had appeared unchanged generation after generation, from local seed merchants. Mendel also kept accurate and quantative records of data obtained which he analysed
what did Mendels simplest experiment involve
only 1 characteristic with 1 pair of contrasting traits, he mated individuals from 2 parent strains, each of which showed a different phenotype. 1 parent was true-breeding for tall stems and the other was true-breeding for short stems. The partents were called P1 (parental generation), all offspring from this cross, the F1 (first filial) generation, were phenotypically identical to 1 parent type. They were all tall
what happened when Mendel allowed members oif the F1 genertaion to self-fertilise
the resulting F2 generation contained some short plants, but there were 3 times as many tall as short plants. 3/4 were tall, 1/4 were short
what happened when mdnd crossed true-breeding plants showing the other 6 phenotypic variations
he obtained similar resukts to his first experiment
in pea plants what is the characteristic of height
it is monogenic, it is governed by 1 gene that has 2 distinc alleles T/t
what happens in pea plants when 1 allele, t, is present in a homozygous individual giving a ohenotype of tt
produces phenotypically short plants
what happens in pea plants when the the other allele, T, is present in homozygous (TT) or heterozygous (Tt) indiviuals
produces phenotypically tall plants
what is the allele T and t in pea plants described as
dominant (it codes for a dominat characteristic) and the t allele is recessive (only visible in phenotype if no dominant allele
What can be visulaised in a punnet square
genotypes and phenotypes resulting from the possible combinations of gametes during a monohybrid cross, showing possible outcomes of monogenic inheritence
how do punnett squares work and what do they predict
all possible gametes are assigned to a row, with those of the female parents in vertical colums and those of the male in the horizontal row. The genotypes of the next generation are predicted by combining the male and female gamete genotypes (a process that represents all possible random fertilisation events. The phenotype of the genotype can also be predicted.
In medels experiment which did all short pea plants have gennotype tt
as hsortness is a recessive characteristic so individuals with that phenotype must have genotype, tt. These are called homozygous recessive
How do we know he tall pea plants in the F1 generation all have the same genotype, Tt
they are all heterozygous, this is decuded from the genotypes of thier true breeding parents (TT and tt) and the genotypes of the gametes (T and t) that must have cobined to produce this generation
In the F2 generation some tall plants had genotype TT and some Tt. What does this mean?
they both have the same phenotype, tall, and it is impossible to tell thier genotype from their apperence
What is the test cross
a simple way to test genotypes devised by mendel
How does the test cross work
the organism exhibiting the dominant phenotype (tall) but unknow genotype (TT or Tt) os crossed with an individual showing the recessive phenotype, so being of homozygous recessive genotype (tt). If any of the offspring jave the recessive phenotype then the dominant phenotype organism is heterozygous, Tt
WhT are dihybrid crosses
Investigations that examine the simultaneous inheritance of 2 characteristics
What did Mendel examine the inheritance of in 1 of his dihybrid crosses
Seed shape and seed colour in pea plants, he crossed true-breeding pea plants with yellow and round seeds with true-breeding pea plants that had green and wrinkled seeds
What we’re all the F1 generations in mebdels dihybrid cross
All hybrids, having the phenotype of yellow and round seeds. Each plant in F1 generation is heterozygous for both genes (seed colour and shape), so yellow and round are both dominant traits
From the results of Mendel dihybrid cross what did he deduce
The alleles of the 2 genes are inherited independently of each other, so each gamete has 1 allele for each gene loci, and, during fertilisation, any 2 of an allele pair can combine with any one of another allele pair
What can we do if we consider the 2 crosses for seed colour and shape as 2 independent monohybrid crosses with the 2 sets of trait inherited independently
We can predict the outcome of allowing the members of the F1 generation to self-fertilise
What are the chances of the seed colour being inherited not influenced by
The chances of the trait for seed shape being inherited
If we assume that seed colour and seed shape are 2 separate monogenic characteristics
For the characteristic of colour:In the F 2 generation we would predict 3/4 would be yellow and 1/4, a ratio 3:1, for the characteristics of shape:we would predict 3/4 round and 1/4 wrinkled, ratio 3:1
What is the equation when 2 independent events occur simultaneously
Product of individual probabilities = combined probability of occurrence
What results did Mendel get from his dihybrid cross
9:3:3:1
What did Mendel unknowingly do when investiGting dihybrid inheritance
Without knowing the process of genes or meiosis, chose 2 characteristics, the genes for which are on different chromosomes
what is the result of a huge number of changes occuring anywhere within a gene over time
many genes have morw than 2 alleles
what does it mean when a gene is said to have multiple alleles
when 3 or more alleles at a specific gene locus are known, however, any individual can only posses 2 alleles, one on each gene locus, in a pair of homologous chromosomes
What is a good example of multiple alleles
inheritance of human ABO blood groups, it also demonstrates both dominance and codomincace of alleles are involved
what is codominance
where both alleles present in genotype of all heterozygous indivdual contribute to indivduals phenotype
What are the 4 blood groups (phenotype - A B AB O) determined by
3 alleles of a single gene on chromsome 9, the gene encodes isoagglutinogen, I, on surface of erythrocytes
What is which blood group you get determined by
alleles are present in the human gene pool are IA, IB, and IO. IA and IB are both dominant to IO which is recessive. IA and IB are codominant. If both IA and IB are presebnt in genotypethey both contribute to the phenotype. Any individual will have only 2 of 3 alleles in their blood type
What are the other 22 chromosomes not sex chromosomes called
Autosomes
WhT is each autosomal pair
Fully homologous - they match for length and contain same genes at same loci
What are the sex chromosomes
XY in males XX in females, X and Y chromosomes are not fully homologous, a small part of 1 matches a small part of the other, so these chromosomes can pair up before meiosis