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BBC - GCSE Bitesize - Genes and inheritance

Science
Genes and inheritance
Chromosomes are made from DNA. Genes are short sections of DNA. Alleles are different forms of a gene. They can be dominant or recessive. Genetic diagrams help us to understand the possible outcomes when parents produce offspring. Cystic fibrosis is a disorder of the cell membranes caused by a recessive allele. Sickle cell disease is another example of a genetic disorder.

DNA, genes and chromosomes


DNA
DNA [ DNA : The material inside the nucleus of cells, carrying genetic information. DNA stands for Deoxyribonucleic Acid. ] (deoxyribose nucleic acid) molecules are large and complex. They carry the genetic code that determines the characteristics of a living thing. Except for identical twins, each persons DNA is unique. This is why people can be identified using DNA fingerprinting. DNA can be cut up and separated, forming a sort of 'bar code' that is different from one person to the next.

Genes
A gene gene : The basic unit of genetic material inherited from our parents. A gene is a section of DNA which controls part of a cell's chemistry - particularly protein production. is a short section of DNA. Each gene codes for a specific protein by specifying the order in which amino acids must be joined together.

Chromosomes
The cells nucleus contains chromosomes chromosomes: Rod shaped bodies found in the nucleus of cells that contain genetic information (DNA). made from long DNA molecules.
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BBC - GCSE Bitesize - Genes and inheritance

The diagram shows the relationship between the cell, its nucleus, chromosomes in the nucleus, and genes.

Nucleus, chromosome and gene

Alleles
Some characteristics, such as eye colour and the shape of the earlobe, are controlled by a single gene. These genes may have different forms. Different forms of the same gene are called allele allele: One form of a gene.s (pronounced al-eels). The gene for eye colour has an allele for blue eye colour and an allele for brown eye colour. Alleles are dominant dominant: An allele that always expresses itself whether it is partnered by a recessive allele or by another like itself or recessive recessive: Describes the variant of a gene for a particular characteristic which is masked or suppressed in the presence of the dominant variant. A recessive gene will remain dormant unless it is paired with another recessive gene :

the characteristic controlled by a dominant allele develops if the allele is present on one or both chromosomes in a pair the characteristic controlled by a recessive allele develops only if the allele is present on both chromosomes in a pair
For example, the allele for brown eyes is dominant, while the
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BBC - GCSE Bitesize - Genes and inheritance

allele for blue eyes is recessive. An individual who inherits one or two alleles for brown eyes will have brown eyes. An individual will only have blue eyes if they inherit two copies of the allele for blue eyes.

Individuals A and B have brown eyes - only individual C has blue eyes

Genetic diagrams
Gregor Mendel (1822-1884) studied the inheritance of different characteristics in pea plants. He found that when he bred redflowered plants with white-flowered plants, all the offspring produced red flowers. If he bred these plants with each other, most of the offspring had red flowers but some had white. This was because the allele for red flowers is dominant and the allele for white flowers is recessive. Genetic diagrams help to show how this works. In a genetic diagram, you show all of the possible alleles for a particular characteristic. There will be two alleles from one parent and two from the other parent, making four altogether. You then draw lines to show all the possible ways that these alleles could be paired in the offspring. There will be four possible ways but some or all of them could be repeated.

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BBC - GCSE Bitesize - Genes and inheritance

A genetic diagram showing the outcome of Mendel's first cross. All the offspring have red flowers, even though they carry the recessive allele for white flowers

In genetic diagrams, the dominant allele (this allele will always have an affect) is shown as a capital letter, while the recessive allele (this allele will not be seen if a dominant is present) is shown as a lower-case letter.

A genetic diagram showing the outcome of Mendel's second cross. Three-quarters of the offspring have red flowers and a quarter have white flowers

The alleles in the organism are the genotype . What the organism looks like, eg red flower is the phenotype. Offspring with two alleles the same are homozygous eg FF or ff. If the alleles are different eg Ff then it is
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BBC - GCSE Bitesize - Genes and inheritance

heterozygous.

Cystic fibrosis
Genetic diagrams (Punnett squares)
Genetic diagrams or Punnett squares are used to show the possible outcomes of a particular cross. A dominant allele is shown by a capital letter, and a recessive allele by a lower case letter. Cystic fibrosis Cystic fibrosis (CF) is caused by a recessive allele. In the genetic diagram below, it is written as f . People with CF produce abnormally thick and sticky mucus in their lungs and airways. As a result, they are more likely to get respiratory infections. Daily physiotherapy helps to relieve congestion, while antibiotics [ antibiotics : Substances that kill bacteria. ] can fight infection. CF also affects the gut and pancreas, so food is not digested efficiently.

Inheriting copies of the allele


You need to inherit two copies of the faulty allele to be born with CF. If you have just one copy, you are a carrier, but will not experience any symptoms. If two carriers have a child together, there is a one in four chance (or 25 per cent) of it inheriting the disorder. The genetic diagrams below shows why. Cystic fibrosis is an inherited disorder caused by a recessive allele. This genetic diagram shows the possible outcomes when both parents are heterozygous for the faulty allele. There is a one in four chance or

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BBC - GCSE Bitesize - Genes and inheritance

25 percent of the offspring being homozygous for the faulty allele, and so having cystic fibrosis.

This genetic diagram shows the possible outcomes when only one parent carries the faulty allele. There is no chance of the offspring being homozygous for the faulty allele, and so having cystic fibrosis.

Sickle cell disease


Sickle cell disease is a recessive condition so the sufferer has two copies of a faulty gene. The red blood cells of sufferers are misshapen and can stick together which can block blood vessels. Sickle cell disease sufferers can become very tired and quickly get out of breath. If the sickle cells block Sickle cells a blood vessel, this can be fatal.

Pedigree analysis - Higher tier


Doctors can use a pedigree analysis chart to show genetic disorders are inherited in a family. They can use this to work out the probability (chance) that someone in a family will inherit a condition. This is called pedigree analysis. All the family members are mapped onto a family tree. Those with and without a certain trait, in this case sickle cell disease, are shown. In the diagram those with sickle cell disease are shown by blue shaded symbols squares for males and circles for females. In the diagram a family tree is shown for the chance
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BBC - GCSE Bitesize - Genes and inheritance

of inheriting sickle cell disease. The doctors will not know for certain if someone will inherit and will recommend further tests if necessary.

A pedigree analysis

1. Alfie and Esme both have sicke cell disease. 2. Of their four children, three have sickle cell, one does not (Thomas). 3. One child, Abi who has sickle cell disease, has children with Theo, who has normal cells. 4. They have four children. Two have normal cells and one has sickle cells. Doctors can work out the chance of Bob having sickle cells.
Note: you will not be asked to work out actual probabilities from pedigree diagrams, but will need to know how to do this with Punnett squares.

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BBC - GCSE Bitesize - Genes and inheritance

Question
What is the probability that Bob will have sickle cell disease?

Answer
If we assume that Theo is a carrier, the chance of Bob having sickle cell disease is 50%. Now try a Test Bite. Back to Revision Bite

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