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A-level Biology - 3.3.6 Inheritance

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A gene is a sequence of DNA bases that codes for a specific polypeptide or protein. This protein expression determines a particular characteristic or trait in an organism.

Define gene

A sequence of bases on a DNA molecule that codes for a protein (polypeptide), which results in a characteristic

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Key Terms

Term
Definition

Define gene

A sequence of bases on a DNA molecule that codes for a protein (polypeptide), which results in a characteristic

Define Genotype

The genetic constitution of an organism

(i.e. the alleles an organism has)

Define Phenotype

The expression of the genetic constitution and its interaction with the environment

(i.e. an organism’s characteristics)

Define Allele

A different version of a gene

Explain what is meant by a recessive allele

Only expressed in phenotype when 2 alleles are present

Explain what is meant by a dominant allele

Is always expressed in the phenotype

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TermDefinition

Define gene

A sequence of bases on a DNA molecule that codes for a protein (polypeptide), which results in a characteristic

Define Genotype

The genetic constitution of an organism

(i.e. the alleles an organism has)

Define Phenotype

The expression of the genetic constitution and its interaction with the environment

(i.e. an organism’s characteristics)

Define Allele

A different version of a gene

Explain what is meant by a recessive allele

Only expressed in phenotype when 2 alleles are present

Explain what is meant by a dominant allele

Is always expressed in the phenotype

Explain what is meant by co-dominant alleles

Both alleles are expressed in the phenotype

Define Homozygous

An organism that carries 2 copies of the same allele

Define Heterozygous

An organism that carriers 2 different alleles

Define Carrier

Person carrying an allele which isn’t expressed in phenotype but can be passed on to offspring

Define Locus

Fixed position of gene on a chromosome

(Alleles of gene are found at same locus on each chromosome in a pair)

Define Autosome

Any chromosome that is not a sex chromosome

Define Allosome

Sex chromosome

What is monohybrid inheritance?

Inheritance of a characteristic controlled by a single gene

Draw a monohybrid cross showing how wing length is inherited in fruit flies when the parent’s genotypes are NN x nn. Include the phenotypes and phenotypic ratio.

N - normal wings allele

n - vestigial (little) wings allele

Parents: NN (normal wings) × nn (vestigial wings)
All offspring are Nn (normal wings), so phenotypic ratio = 100% normal wings.

Draw genetic diagram when the paren’ts genotypes are HNHS x HNHS (i.e. crossing 2 parents with sickle-cell trait (heterozygous))

HN = normal haemoglobin

HS = sickle haemoglobin

Parents: HNHS × HNHS
Offspring genotypes: 1 HNHN (normal), 2 HNHS (sickle cell trait), 1 HSHS (sickle cell disease); phenotypic ratio = 3 normal/sickle cell trait : 1 sickle cell disease.

In the ABO blood group system in humans there are 3 alleles for blood type:

IO is the allele for blood group O

IA is the allele for blood group A

IB is the allele for blood group B

Allele IO is recessive. Alleles IA and IB are codominant - people with genotype IAIB will have blood group AB.

Draw a genetic diagram that shows a cross between a heterozygous person with blood group A and a heterozygous person with blood group B.

  • IAIB = Blood group AB

  • IBIO = Blood group B

  • IAIO = Blood group A

  • IOIO = Blood group O

What do dihybrid crosses show?

Show how 2 genes are inherited are once

Draw a dihybrid cross diagram for when the both parents’ gentotype is RrYy. Include the phenotype and the phenotypic ratio.

R - round seed

r - wrinkled seed

Y - yellow seed

y - green seed

Parents: RrYy × RrYy
Phenotypic ratio: 9 round yellow : 3 round green : 3 wrinkled yellow : 1 wrinkled green.

When are characteristics said to be sex-linked?

When the allele that codes for a characteristic is located on a sex chromosome

Most genes on sex chromosomes are only carried on ___ chromosomes

X

(X-linked genes)

Explain why males are more likely than females to show recessive phenotypes for genes that are sex-linked

Males only have 1 X = 1 allele for sex-linked genes

∵ have only 1 copy, express characteristic of allele even if its recessive

Colour blindness is a sex-linked disorder caused by a faulty allele carried on the X chromosome

Given that the female parent is a carrier and the male is unaffected, draw monohybrid diagram (n = faulty allele for a colour vision)

Female parent: XᴺXⁿ (carrier), Male parent: XᴺY (unaffected)
Offspring phenotypes: 50% daughters carriers, 50% sons normal, 50% sons colour blind; phenotypic ratio—50% affected males, 0% affected females.

What are autosomal genes?

Genes located on the autosomes

Genes on the same autosome are said to be ____

linked

Why are autosomal genes said to be linked?

∵ they're on the same autosome, they'll stay together in independent segregation of chromosomes in meiosis I

And their alleles will be passed on to offspring together

(Only doesn't occur if crossing over splits them up 1st)

The closer together 2 genes are on autosome, the more …

closely they're linked

Why is that the more closer together 2 genes are on autosome, the more closely they're linked?

∵ reduces the chance of genes being separated during crossing over

What happens to the phenotypic ratio expected in offspring when 2 gene are autosomally linked?

It changes - won't get the phenotypic ratio you expect in offspring of cross

e.g. Dihybrid cross between 2 heterozygous parents = 9:3:3:1 ratio in offspring

Instead phenotypic ratio more likely to be like monohybrid cross between heterozygous parents (3:1)

Why is the phenotypic ratio different when 2 genes are autosomally linked?

∵ higher proportion of offspring will their parents' (heterozygous) genotype and phenotype

Explain the difference in the phenotypic ratios

NR and nr linked (in NnRr parent)

NnRr parent produces mainly NR and nr gametes

So fewer Nnrr and nnRr

Crossing over produces some Nr and nR gametes

What is epistasis?

When an allele of 1 gene masks (blocks) the expression of the alleles of other genes

Name the 3 types of epistasis

Recessive epistasis

Dominant epistasis

Complementary epistasis

Describe dominant epistasis

Having at least one copy of the dominant epistatic allele masks (blocks) the expression of the other gene

Dominant Epistasis

State the phenotypic ratio when you cross a homozygous recessive parent with a homozygous dominant parent

12 : 3 : 1

dominant epistatic : recessive epistatic dominant other : recessive both

Squash colour is controlled by 2 genes - the colour espistatic gene (W/w) and the yellow gene (Y/y). The no-colour, white allele (W) is dominant over the coloured allele (w). The yellow gene has the dominant yellow allele (Y) and the recessive green allele (y).

Draw a genetic digram crossing WwYy with WwYy. Include the phenotypes and phenotypic ratio.

Parents: WwYy × WwYy
Phenotypic ratio: 13 white (W_) : 3 colored (ww); among colored, 3 yellow (wwY_) : 1 green (wwyy).

Describe recessive epistasis

Having 2 copies of the recessive epistatic allele masks (blocks) the expression of the other gene

Recessive Epistasis

State the phenotypic ratio when you cross a homozygous recessive parent with a homozygous dominant parent

9 : 3 : 4

dominant both : dominant epistatic recessive other : recessive epistatic

Flower pigment in a plant is controlled by 2 genes. Gene 1 codes for a yellow pigment (Y = dominant yellow allele) and gene 2 codes for an enzyme that turns the yellow pigment orange (R = dominant yellow allele). Cross YyRr x YyRr. Include phenotypes and phenotypic ratios.

Parents: YyRr × YyRr
Phenotypic ratio: 9 orange (Y_R_), 3 yellow (Y_rr), 3 no pigment (yyR_), 1 no pigment (yyrr).

When do you use the chi-squared (χ2) test?

Used to see if results of experiment support a theory

State the chi-squared formula

O = Observed result

E = Expected result

To find if there's a significant difference between your observed and expected results, you need to compare χ2 value to ____ ____

critical value

If χ2 ≥ critical value, there's a

Significant difference

(Something other than chance causing difference)

Null hypothesis can be rejected

If χ2 \< critical value, there's …

NO significant difference

Accept null hypothesis

Describe how you work out the degrees of freedom

Number of classes (no. of phenotypes) - 1

e.g. 2 - 1 = 1

How do multiple alleles of a gene arise? (2)

Due to mutations

Which occur in different positions in the gene

At extremities (e.g. legs/arms) temperature is _____

lower

Explain one piece of evidence from the diagram which proves that the allele for Tay-Sachs disease is recessive (2)

3 & 4 produce 9/11 who are affected

Both 3 and 4 are heterozygous (carry recessive allele)

Explain one piece of evidence from the diagram which proves that the allele for Tay-Sachs disease is not on the X chromosome (2)

11 is affected, 3 is not

(If on X) 11 / affected female would not receive the recessive allele on X chromosome / Xt from 3 / father

Explain why sex-linked conditions are more common in males than in females (3)

Males have XY chromosomes and females have XX chromosomes

Recessive allele on X chromosome has no (equivalent) allele on Y chromosome

Male needs to inherit one recessive allele whereas female needs to inherit two

Suggest one reason why observed ratios are often not the same as expected ratios (1)

Due to chance

Fertilisation is random

How is variation genetically controlled? (1)

Polygenes / several genes

Extension: State the genotype of the heterozygous parent using the correct notation

The genotype of the heterozygous parent is YyRr.
This indicates heterozygosity for both genes controlling pigment color.