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Understanding Genetic Inheritance Basics

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17 views10 pages

Understanding Genetic Inheritance Basics

Copyright
© All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd

Inheritance

Cells contain a nucleus*. The nucleus contains chromosomes.


Chromosomes are long chains of genes, codes that are instructions
(or recipes) to build proteins amino acid by amino acid. Genes are
made up of DNA that code for a specific protein.

DNA (deoxyribonucleic acid) is a molecule made of 2 strands coiled


together to form a double helix. The strands are linked by a series
of paired bases. The bases can be in any order but always pair as
follows: Adenine=Thymine, Cytosine=Guanine

The order of the bases forms the genetic code, which codes for
particular proteins, the basis of the characteristics of an individual.
The section of DNA that codes for a particular characteristic is a
gene. There are genes for eye colour, skin colour etc. Alleles are one
form of a gene. The gene for eye colour has different alleles, the
blue eye allele, the green eye allele, the brown eye allele etc.

Humans have 46 chromosomes (diploid cells), 23 inherited from each


parent. The egg cells and sperm cells only have 23 chromosomes
(haploid cells) in them; at fertilisation they fuse to form a zygote
with 46 chromosomes.

The chromosomes above have been arranged in pairs, one


chromosome from each pair is from each parent. Both chromosomes
carry the same genes (except sex chromosomes) but the genes on
each chromosome may have different alleles.

Sex determination

The sex chromosomes are different in males and females; women


have XX chromosomes whereas men have XY chromosomes. When
the gametes are produced they each receive one of the sex
chromosomes. Eggs always have X chromosomes but sperm can have
either X or Y.
There is always a 50% chance of any offspring being a girl or a boy.

Key Words

DNA – Deoxyribonucleic acid. A genetic code that holds instructions


for building proteins.

Gene – One instruction in the code telling a cell how to make a


specific protein.

Allele – Different versions of the same gene that produce variations


of the same characteristic. The gene for hair colour can have the
alleles brown, red, blonde or black.
Chromosome – A coil of DNA

Haploid – A cell with half the number of chromosomes, e.g. gametes

Diploid – A cell with the full number of chromosomes, e.g. body cells

Phenotype – The visible characteristics of an organism as a result of


its genes.

Genotype – The two alleles for a particular characteristic

Heterozygous – When two different alleles for a gene are different

Homozygous – When 2 alleles for a gene are the same.

Dominant – Alleles that always affect the phenotype.

Recessive – Alleles that never affect the phenotype

Monohybrid inheritance

The inheritance of a characteristic produced by one gene can be


shown in genetic diagrams, which can be used to predict inheritance.
In the example given a tall plant is crossed with a short plant. All
their offspring (generation F1) are tall, but heterozygous. They have
a tall allele and a short allele. If the F1 generation are then crossed
with one another their offspring (generation F2) will be ~ 3 tall
plants and 1 short plant with the genotypes TT (homozygous tall), Tt
(heterozygous tall), and tt (homozygous short).

Co dominance is when both alleles for a gene are expressed in the


phenotype. Human blood types are determined by three different
alleles; IA, IB and Io. The Io is recessive but IA and IB are both
dominant. Therefore it is possible to be the blood group A (either
IAIA or IAIo), blood group B (either IBIB or IBIo), blood group AB
(IAIB) or blood group O (IoIo).

Family pedigrees

Humans only produce a small number of offspring, so it can be


difficult to work out whether an allele is recessive or dominant. This
is where family pedigrees are useful.
This genetic diagram tells us;

1.​ There are 4 generations shown in this diagram.


2.​ The first couple had 3 children.
3.​ Two of the children of the first couple had 2 children, the
third had 1.
4.​ That 1 child had 4 of their own children.
5.​ None of them are unaffected carriers, but they have had
unaffected children.
6.​ This family has 8 members who are affected, 5 of them are
male and 3 are female.
7.​ The trait must be dominant, as there are no unaffected
carriers.

Cell division

There are two types of cell division;


- Mitosis – used for growth, repair & asexual reproduction
- Meiosis – used to produce gametes for sexual reproduction

Meiosis Mitosis
Starts with Diploid cells Diploid cells
Ends with Haploid gamete cells Diploid body cells
Where Reproductive organs All body cells
Similarity Non identical Identical
No. of daughter cells 4 2
Stages 2 1
Meiosis​ ​ ​ ​ ​ ​ ​ Mitosis

​ ​ ​ ​ ​ ​ ​ ​

Variation

Individual humans can produce gametes with millions of different


combinations of chromosomes. At fertilisation any one of these male
gametes can fuse with the female gamete. The potential variability
in the offspring is huge, and this is why we look different to our
siblings.

Variation is how individuals of the same species differ. There are 2


types of variation;

1.​ Discontinuous – Where a characteristic can have one of a


certain number of alternatives e.g. gender or blood group.
2.​ Continuous – Where a characteristic can have any value in a
range e.g. body weight or length of hair.

Variation can be caused by;

1.​ Environmental causes – diet, climate, accidents, surroundings


and lifestyle can all influence characteristics.
2.​ Genetic causes – characteristics controlled by genes such as
eye colour or gender.
3.​ Environmental and genetic causes – characteristics influenced
by both the environment and genetics. If your family is tall,
but your diet is very poor you won’t be as tall.

Mutation

A rare random change in the genetic code of a gene, like a spelling


mistake that changes the context of the sentence, that can produce
a different form of the gene (allele).

Mutations can produce changes that are;

1.​ Beneficial – the change may give it some advantage over other
individuals of the same species.
2.​ Neutral - has no obvious effect.
3.​ Harmful – Causing the early death of the embryo, or making
the individual less able to survive. Most mutations are harmful.

Mutations are caused by;

1.​ Ionising radiation such as gamma rays, X rays and UV radiation.


2.​ Mutagens such as chemicals in tobacco smoke.

Evolution - Adaption over time to changes in the environment


through the process of natural selection.

Natural selection – The influence of the environment on survival


and/or reproduction, so that organisms with some characteristics
are more successful at producing offspring than others.

Darwin came up with this theory.

Darwin’s 1st Observation: Not all individuals survive


Darwin’s 2nd Observation: There is variation in a species
Darwin’s Conclusion: The better adapted individuals survive
(The “fittest”) and reproduce, passing their alleles onto the next
generation

Antibiotic resistance

Antibiotics are chemicals used to kill bacteria when they cause


infection. Bacteria are evolving to become resistant to them.

1.​ An infected patient is treated with antibiotics.


2.​ The infection is caused by millions of bacteria of one species,
and individual bacteria will show variation.
3.​ Some bacteria, as a result of random mutation will acquire a
characteristic that means the antibiotic won’t kill them as
quickly; they have developed antibiotic resistance.
4.​ If the full course of antibiotics is not taken these resistant
bacteria will survive and reproduce.
5.​ Resistant bacteria numbers will increase and infect others.
6.​ Any newly infected person will need a different antibiotic to
control the infection.

This has become a real problem as many species of bacteria show


multiple antibiotic resistance, there are only a few antibiotics to
use on them left.

Common questions

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Family pedigrees can trace the inheritance patterns of traits across generations by documenting familial relationships and the presence or absence of particular characteristics. Dominant traits typically appear in each generation, whereas recessive traits may skip generations. Analysis of pedigrees can help identify whether traits are associated with dominant or recessive alleles and predict future trait expression in descendants, aiding in genetic counseling and disease screening .

Mutations serve as a source of genetic diversity, which is essential for evolution. Beneficial mutations can give individuals a survival advantage, such as antibiotic resistance in bacteria, thus promoting their proliferation through natural selection. Conversely, most mutations are neutral or harmful, potentially causing diseases or reducing individuals' fitness, leading to early embryonic death or reduced survival rates. Nonetheless, over long periods, favorable mutations accumulate, driving the evolution of species .

Dominant alleles affect the phenotype whenever they are present, masking the effects of any recessive alleles. An organism with at least one dominant allele will exhibit the associated trait. Recessive alleles only affect the phenotype when both alleles are recessive (homozygous recessive). For example, in plants, the allele for tall height is dominant, so only plants with two short alleles will be short .

Co-dominance occurs when both alleles for a gene are expressed equally in the phenotype. In human blood groups, the alleles IA and IB are both dominant, which means both are fully expressed when co-present, resulting in the AB blood type. Unlike recessive alleles, which do not get expressed in the presence of a dominant allele, co-dominant alleles like IA and IB show their effects simultaneously, hence a person with the genotype IAIB will have type AB blood .

Meiosis contributes to genetic variation through processes such as independent assortment and crossing over. During meiosis, chromosomes are shuffled such that gametes receive different combinations of maternal and paternal chromosomes (independent assortment). Additionally, crossing over allows segments of DNA to be exchanged between homologous chromosomes, creating new allele combinations. This generates genetically unique gametes, increasing diversity in offspring when they fuse during fertilization .

An individual's height is influenced by both genetic and environmental factors. Genetically, traits for height are inherited from parents, with a potential range predetermined by their alleles. Environmentally, nutrition, health during childhood, and overall living conditions can enhance or limit the actualization of this genetic potential. For instance, a genetically tall individual may not reach their potential height if they suffer from malnutrition .

Sex chromosomes play a critical role in determining the sex of offspring. Females have XX chromosomes, while males have XY chromosomes. During sexual reproduction, the mother contributes an X chromosome while the father can contribute either an X or a Y chromosome. This results in a 50% chance of the offspring being male (XY) or female (XX), thus sex chromosomes determine sex through the combination they form in the zygote .

DNA is structured as a double helix, composed of two strands coiled together, which allows it to contain a sequence of bases that form the genetic code. The pairing of these bases (Adenine=Thymine, Cytosine=Guanine) is crucial for DNA replication and transcription into RNA, which ultimately leads to protein synthesis. This sequential structure is essential for accurately encoding the proteins that determine genetic characteristics and passing them on through generations during cell division and fertilization .

Antibiotic resistance poses significant challenges for public health as it leads to the development of 'superbugs' that are difficult to treat with existing antibiotics. This occurs when bacteria acquire mutations that allow them to survive antibiotic treatment, especially if the full course isn't completed. Such bacteria can multiply and spread, making infections harder to control. Fewer effective antibiotics remain, necessitating the development of new drugs and alternative treatment strategies, which are costly and time-consuming .

Mitosis and meiosis are distinct processes of cell division. Mitosis results in two genetically identical diploid body cells, used for growth, repair, and asexual reproduction. In contrast, meiosis produces four non-identical haploid gamete cells, contributing to offspring's genetic variation in sexual reproduction. The stages differ, with mitosis having one division cycle while meiosis involves two, further promoting genetic diversity through independent chromosome assortment and recombination .

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