4.3 – Theoretical Genetics 4.3.1 - Define genotype, phenotype, dominant allele, recessive allele, codominant alleles, locus, homozygous, heterozygous, carrier and test cross Genotype - The alleles of an organism Phenotype - The characteristics of an organism Dominant Allele - An allele that has the same effect on the phenotype whether it is present in the homozygous or heterozygous state Recessive Allele - An allele that only has an effect on the phenotype when present in the homozygous state Codominant Alleles - Pairs of alleles that both affect the phenotype when present in a heterozygote Locus - The particular position on homologous chromosomes of a gene Homozygous - Having two identical alleles of a gene Heterozygous - Having two different alleles of a gene Carrier - An individual that has one copy of a recessive allele that causes a genetic disease in individuals that are homozygous for this allele Test Cross - Testing a suspected heterozygote by crossing it with a known homozygous recessive
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4.3.2 - Determine the genotypes and phenotypes of the offspring of a monohybrid cross using a Punnett grid Genetics crosses allow us to determine the genotype and phenotype of offspring, using the Punnett grid method. Cross = Heterozygote (Rr) x Heterozygote (Rr) Male Female R r R = Dominant gene Ovules
Pollen R r RR Rr Rr rr r = Recessive gene
In this example, there are three genotypes in the ratio: 1RR : 2Rr : 1rr The phenotypes for the offspring with the dominant gene will all express this gene in their phenotype. Only the genotype rr results in a phenotype with the recessive gene. Hence, there are two phenotypes in the ratio: 3 Dominant : 1 Recessive
4.3.3 - State that some genes have more than two alleles (multiple alleles) There are some genes that have more than two alleles. However, an individual can only possess two alleles. Multiple alleles increase the number of different phenotypes in a given population. Multiple alleles can be dominant, codominant or recessive.
4.3.4 - Describe ABO blood groups as an example of codominance and multiple alleles In the human ABO blood group system, the blood group can be determined by three different alleles, meaning that there a multiple alleles. These are A, B and O. ABO antigens are sugars attached to the surface of red blood cells. Each allele codes for enzymes that join theses sugars together.
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O produces a non-functioning enzyme that does not make any changes to the basic molecule. A and B are codominant (expressed equally), producing different antigens. These antigens react with antibodies present in the blood from other people, which must be matched for transfusion. These can also be written IA, IB and i. I stand for immunoglobin Phenotype
Genotype
O A B AB
ii IAIA or IAi IBIB or IBi IAIB
4.3.5 - Explain how the sex chromosomes control gender by referring to the inheritance of X and Y chromosomes in humans Gender is determined by the sex chromosome inherited from each parent. Males are referred to as the heterogametic sex. Each somatic cell has one X chromosome and one Y chromosome. Females are homogametic. Somatic cells with two X chromosomes. X chromosomes are longer than Y chromosomes. Sex chromosomes are the 23rd pair. The only possible phenotypes from a cross are male and female – XX or XY. The ratio of karyotypes is therefore: 1XX : 1XY
4.3.6 - State that some genes are present on the X chromosome and absent from the shorter Y chromosome in humans There is a size difference between the X and Y chromosomes. A male will only have one allele for genes that occur in the non-homologous region of the X chromosome. Genes in the homologous region will have to alleles, functioning like other genes. Females always have two alleles because the complete length of X chromosome has a homologous pair.
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4.3.7 - Define sex linkage Genes carried on only one of the sex chromosomes and which therefore show a different pattern of inheritance in crosses where the male carries the gene from where the female carries the gene When a gene is sex linked, the characteristic is usually seen in the heterogametic sex (human males). Examples include red-green colour blindness and haemophilia.
4.3.8 - Describe the inheritance of colour blindness and haemophilia as example of sex linkage Colour Blindness Red-Green colour blindness is produced by a sex-linked, recessive allele. The gene loci is on the non-homologous region of the X chromosome. Males must inherit the gene from their mothers. Males cannot pass the gene onto their sons. A female can carry the gene without expressing it.
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Haemophilia Haemophilia is produced by sex-linked, recessive alleles. Males are always affected, but females can be carrier. It is inherited from the mother. Haemophilia is a condition in which blood clotting factor cannot be produced, causing uncontrolled bleeding. It is more common in men than women.
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4.3.9 - State that a human female can be homozygous or heterozygous with respect to sex-linked genes Homozygous - having two identical alleles of a gene Heterozygous - having two different alleles of a gene Females can be homozygous for sex-linked alleles, with both alleles have the same gene. On the other hand, they can be heterozygous, with each chromosome carries a different gene. Condition
Homozygous
Heterozygous
Haemophilia Red-Green Colour blind
XhXh, XH XH Xb Xb, XB XB
XH Xh XB Xb
4.3.10 - Explain that female carriers are heterozygous for X-linked recessive alleles Carriers for recessive alleles have both the dominant and the recessive allele. The disease is recessive, so it is not expressed in the carrier's phenotype. They have two different alleles of a gene.
4.3.11 - Predict the genotypic and phenotypic ratios of offspring and monohybrid crosses involving any of the above pattern of inheritance Cystic fibrosis is found on the autosomal chromosomes. It is a recessive disorder in which the allele key is dominant CF and Cf for the recessive allele.
CF Cf
Female Gametes
Male Gametes CF Cf CF CF CF C f CF Cf Cf Cf
Therefore the ratio of phenotypes is: 3 No Disease : 1 With Disease Therefore, the child has a 75% chance of not having the disease.
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4.3.12 - Deduce the genotypes and phenotypes of individuals in pedigree charts Geneticists collect information about individuals and relatives within a family. They construct diagrams of inheritance, or family trees, which are called pedigrees. Circles are females, squares are males, diamonds are for unknown, small black circles means died at infancy. Carriers are marked with a small black dot in the centre. Identical and fraternal twins are shown as:
Black means the individual has the condition, white means unaffected. Mating is indicated by a horizontal line
For dominant and recessive alleles, upper case and lower case letter should be used. Letter representing alleles should be chosen with care to avoid confusion between the cases. For co-dominance, the main letter should relate to the gene, and the suffix to the allele i.e. Sickle cell anaemia: HbA and Hbsb Individuals are identified by their generation and order number. Generations are written I, II, III, IV, etc. Orders are simply 1,2,3. The propositus is the person through whom the pedigree is discovered.
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