Genetic variation | Question & Answers

Q: How can the genetic similarities and differences within and between species be compared?
A: By examining variation and variability will allow us to view the presence of genetic differences and
similarities. Variation is evident in individuals, for instance, differences in fur colour or height. Variability
relates to the different forms of a gene within a population, that is, the total of all alleles in a population’s gene
pool. For instance, the coat colour in a population of Australian kelpie dogs includes black, red, blue or fawn.
Therefore, examining variation and variability will allow us to compare the types of genetic similarities and
differences between species.

A1: Genetic similarities and differences between species can be compared via punnet squares and pedigrees.
This ultimately allows us to examine variation and variability, that is, viewing the presence of genetic
differences and similarities within a population. For instance, utilising punnet squares enables us to examine
alleles present in the gene pool, therefore examine the similarities and differences between groups of species.
Moreover, utilising Pedi degree enables us to examine the variation evident in individuals, that is, which
individuals have certain genetic pathogenic variants, traits, and diseases within a family. Therefore, examining
variation and variability will allow us to compare the types of genetic similarities and differences between
species.

Q: How does the crossing of homologous chromosomes allow us to compare the genetic similarities
and differences within and between species
A: Cells undergo meiosis to generate 4 haploid cells, during this process the 2 sets of chromosomes one paternal
and one maternal, are termed the homologous pair. As cells contain chromosomes from maternal and paternal,
its will carry the same genes (traits) of the parents. Thus, as the chromosomes align in early meiosis, synapsis
occurs, where a new combination will result, and random segregation occurs. This allows the individual alleles
of maternally (mother) and paternally (father) derived chromosomes, to assort independently, and therefore
introduced genetic variation. Subsequently, understanding this process will enable us to understand how
organisms have genetic variation. where the genotypes and phenotypes of organisms will ultimately vary, and
therefore we can compare and contrast the genetic similarities between species.

Q: Explain the genetic consequences of fertilisation and how this results in the genetic variation of
species
A: As 2 haploid gametes fuse to form a diploid zygote, the genes in the zygote are a combination of the genes
contributed by the parents. Combinations of gametes during fusion of the sperm cell and egg cell, increase
variation that leads to greater variability in a population of the organism (50% paternal and 50% maternal).
During this process, it is significant to understand that mutation may arise at any point in the process, more so
commonly during the replication of DNA. This may negatively or positively affect the organism’s survival in
the environment, as the mutation may be beneficial to natural selection or otherwise disfavour the organism.

Q: Explain the genetic consequences of cross-fertilisation and how this results in the genetic
variation of species
A: Genetically dissimilar parents of the same species produce offspring that differ, that is more than offspring
produced by sexual reproduction where male and female organs are on the same individual. Therefore,
offspring from cross-fertilisation between plants will have greater genetic diversity than those of self-
fertilisation.
A1: offspring arising from gametes produced by unisexual animals (male or female) have greater genetic
diversity than hermaphroditic (having both organs) animals. Therefore, offspring from cross-fertilisation
between plants will have greater genetic diversity than those of self-fertilisation.

Q: Explain inheritance patterns in organisms and how does it occur

A: Autosomal is a version of each characteristic or trait in an individual that is inherited from both parents and
is therefore controlled by a pair of inherited factors called alleles. This is based on Mendel’s model of
inheritance on a specific set of conditions, that is a pattern of inheritance known as autosomal recessive
inheritance. Therefore, inheritance patterns in an organism occur through these conditions:

 Mendel’s first law of Dominance

 Mendel’s first law of segregation
 Mendel’s second law of independent assortment

Q: Explain how sex determination may cause a sex linkage, and how this affects the organism.

A: Sex determination is the separation of chromosomes during meiosis that recombines during fertilisation to
determine if the offspring is male or female. As cells are halved through meiosis, the female gamete receives 22
autosomes + X, males gametes receive 22 autosomes + X and the other half receive 22 autosomes + Y. During
the process of fertilisation and determining the sex, some genes carried on the X and Y chromosomes code for
characteristics other than the gender, this is sex linkage. If a gene occurs on the X chromosomes of females, as
they have two alleles, they are not affected. However, if a gene occurs on the X chromosome of a male, they are
affected as they have one allele of X and Y. Hence it can be concluded that recessive disorders will appear more
frequently in male organisms.

Q: Analyse the effects of co-dominance and how has this affected organisms and its phenotype

A: In codominance, this is where both alleles are expressed, creating a new phenotype. Where both alleles
behave as dominant alleles because they are both expressed. For instance, pure-breeding (homozygous) cattle
may have a red or white coat colour. Whereas hybrid individuals (heterozygotes), have one allele for red and
one for white coat colour with a roan appearance.

Q: Analyse the effects of incomplete dominance and how has this affected organisms and its phenotype

A: Incomplete dominance is the blending of two alleles expressed, producing a hybrid. Special notation is used
to present alleles that do not show complete dominance (written as superscripts). For instance, red snapdragon
flowers crossed with white snapdragon flowers give pink flowers.

Q: What happens when an organism has multiple alleles

A: Individuals usually have 2 alleles for each gene however, there may be three or more alleles for a single gene
trait, termed as multi-allelic. For instance, the gene for human blood type has three alleles in the population A, B
and O.

Q: How do we represent frequencies of characteristics in a population

A: The genetic similarities and differences may be determined by the phenotype (characteristics), to do so
scientists examine frequency data in genetic studies including:
  The study of population genetics
 The gene pool
 Genetic diversity and genetic variability

Population genetics combines Mendelian genetics and Darwinian evolution to explain how changes in allele
frequencies arise in populations. That is how these changes can lead to microevolution and macroevolution. The
gene pool studies the mathematical changes in gene and allele frequencies in populations, and this develops
quantitative ways of exploring different evolutionary hypotheses. Genetic diversity is a measure of how
common an allele is in a population, consequently all of which enable us to explain changes in an allele
frequency that arise in populations.

Q: What is the importance of single nucleotide polymorphism (SNP) in understanding alleles

A: The term polymorphism refers to individuals with different phenotypes. Polymorphisms usually arise as a
result of a mutation – an error in DNA replication. A single nucleotide polymorphism (SNP) is like a typing
error in DNA, rising during DNA replication where the single nucleotide is incorrectly inserted. However, SNP
may also be referred to as "haplotype", this is where the inheritance of a cluster of single nucleotide
polymorphisms (SNPs) marks alleles on the same chromosome. This can be used for association studies in
disease, tracking the inheritance of different regions of the genome. In other words, SNPs are useful in genetic
studies as they are ‘genetic markers’ currently used to distinguish disease susceptibility in individuals.