3.4 Inheritance Nature of science:

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3.4 Inheritance Nature of science: Applications: Inheritance of ABO blood groups Red-green colour blindness and haemophilia as examples of sex linked inheritance Consequences of radiation after nuclear bombing of Hiroshima and Nagasaki and the nuclear accidents at Chernobyl Understanding: Mendel discovered the principles of inheritance with experiments in which large numbers of pea plants were crossed Gametes are haploid so contain one allele of each gene The two alleles of each gene separate into different haploid daughter nuclei during meiosis Fusion of gametes results in diploid zygotes with two alleles of each gene that may be the same allele or different alleles Dominant alleles mask the effects of recessive alleles but co-dominant alleles have joint effects Many genetic diseases in humans are due to recessive alleles Some genetic diseases are sex-lined The pattern of inheritance is different with sex-linked genes due to their location on the sex chromosome Many genetic diseases have been identified in humans but most are very rare Radiation and mutagenic chemicals increase mutation rate and can cause genetic disease and cancer Skills: Construction of Punnett grids for predicting the outcomes of monohybrid genetic crosses Comparison of predicted and actual outcomes of genetic crosses using real data Analysis of pedigree charts to deduce the pattern of inheritance of genetic diseases Nature of science: Making quantitative measurements with replicates to ensure reliability: Mendel’s genetic crosses with pea plants generated numerical data

Gregor Mendel 1882-1884 Loved gardening Crossed pea plants and looked at the characteristics of the offspring 1000’s of trials/lots of data – he was one of the first scientists to do many repeats Noticed that characteristics can skip a generation Noticed that some characteristics are dominant and some are recessive DID NOT know anything about DNA or genes 1882-1884

3:1 ratio Mendel

Why not perfect 3:1? Why is it important to have lots of repeats?

Inheritance Life Cycle Meiosis halves the number of chromosomes (haploid) when forming gametes. Segregation of alleles. Fertilisation restores the number of chromosomes (diploid) for the next generation. The zygote will contain one copy of each allele from each parent In sexually reproducing organisms the next generation will inherit genes (2 alleles) from two parents.

Chromosomes and alleles What is the name of this?

Locus for characteristic gene Allele for characteristic from male parent Locus for characteristic gene Allele for characteristic from female parent Allele - A different form of the same gene

Dominant and Recessive Alleles Co-dominant Alleles CR Cw CRCW CRCW x CRCW CR Cw CRCW CRCR CR CRCW CWCW Cw What will a dominant allele produce?

Key Terms Genotype – Combination of genes an organism possesses Phenotype – Description of the physical characteristics Heterozygous – One dominant and once recessive allele Homozygous – Both alleles are the same Purebred – Organism where both alleles are the same for a particular characteristic Hybrid – Organism where one dominant and once recessive allele are present for a characteristic

What are the parental genotypes?

Ratio:

Big sheet B = Brown B = blue 1. Homozygous dominant woman and heterozygous man have a baby. What are the chances (%) of having a baby with blue eyes? 2. My mum has blue eyes and my dad has brown eyes. Show how I ended up with blue eyes. What was the % chance?

In garden peas, purple flower color is dominant over white. book 3. In garden peas, purple flower color is dominant over white. A purebred purple flowered plant is crossed with a white flowered plant. What are the chances of having a plant with purple flowers? P = Purple p = white

This condition is controlled by a gene with two alleles. book 4. Achondroplasia is an inherited condition Adults with achondroplasia are
much shorter than average height. This condition is controlled by a gene with two alleles. The dominant allele (A) codes for shorter than average height and the recessive allele (a) codes for average height. (a) Two parents both had achondroplasia. They had a child who grew up to be of
average height. Use a genetic diagram to show how. What was the % chance of having a child of average height?

C

C

C

Inheritance of blood groups (Co-dominace) There is one gene that codes for your blood group. There are three alleles of the ABO blood group gene. A person has two of these alleles. There are two dominant alleles – IA and IB And one recessive allele – i IA = A IB = B i = O IA IA = IB IB = IA IB = IA i = IB I = ii =

Co-dominance phenotype genotype(s) A IAIA IAi B IBIB IBi AB IAIB O i i

Inheritance of blood groups(Co-dominance)

A woman is homozygous for blood group A A woman is homozygous for blood group A. She has a child with a man who has blood group O. What is the % chance their child has blood group O? Write one for your partner

What’s the problem with giving someone the wrong blood group? Antigen A – acetyl-galactosamine Antigen B - galactose Which blood group is the universal donor? Which blood group is the universal recipient?

Are parents able to have 4 children each with a different blood group? Blood groups Are parents able to have 4 children each with a different blood group? How? IAi X IBi

What do you predict? Cross Predicted outcome Pure breeding parents one with 2 dominant alleles and one with 2 recessive alleles Pure breeding parents with different co-dominant alleles Two parents with one dominant and one recessive allele each A parent with one dominant and one recessive allele and a parent with 2 recessive alleles

What do you predict? Cross Predicted outcome Pure breeding parents one with 2 dominant alleles and one with 2 recessive alleles All offspring will have same character as parent with dominant allele (will carry recessive allele) Pure breeding parents with different co-dominant alleles All offspring will have the same character and the character will be different from both parents (will be a mixture of the two) Two parents with one dominant and one recessive allele each Three times as many offspring have the character of the parent with dominant alleles as the recessive A parent with one dominant and one recessive allele and a parent with 2 recessive alleles Equal proportions of offspring with the character of an individual with a dominant allele and the character of an individual with recessive alleles

Recessive Diseases (cystic fibrosis) Most diseases caused by a mutation of a recessive CFTR (autosomal genes (not on sex chromosomes)) Disease in individuals without dominant allele Have two copies of the recessive allele If they have one dominant allele and one recessive allele they are able to pass on that disease to offspring CARRIER

Dominant Diseases (Huntington’s) Some diseases caused by a dominant allele (HTT) of autosomal genes One copy of the mutated allele give a person the disease Show how two parents could have a 50% chance of having a child with Huntington’s Hh x hh Mum Dad H h

Huntington disease is a genetic disorder is caused my a faulty dominant allele (H). A heterozygous male has a child with a homozygous recessive female. What is the % chance of them having a child with no Huntington’s phenotype?