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Terminology Monohybrid cross Only one characteristic/hereditary trait is investigated at a time. Mendel’s Law of Segregation Each characteristic is regulated by two alleles/factors which separate during meiosis so that each gamete contains only one of the alleles/factors Mendel’s Principle of Dominance When two individuals with pure breeding contrasting characteristics are crossed,the F1-generation all display the dominant characteristic Telematics Life Sciences 2012 1 Terminology Complete dominance A genetic interaction where one allele of a gene supress the expression of an alternative allele in the F1 heterozygote (e.g. Bb) so that the phenotype is the same as that of the dominant allele. Incomplete dominance A pattern of inheritance in which a cross between two phenotypically different parents produces an offspring different from both parents but containing partial features of both - intermediate. Co-dominance Both alleles are equally dominant and therefore both are expressed in the phenotype Telematics Life Sciences 2012 2 Terminology Allele: alleles are alternate forms of a gene localised on the same locus on homologous chromosomes. If alleles of the same characteristic are both the same, the organism will be homozygous for that characteristic. If the alleles for a characteristic are different the organism is described as heterozygous for that characteristic. Telematics Life Sciences 2012 3 MONOHYBRID CROSS P1 Generation F1 Generation Telematics Life Sciences 2012 Adapted from idea of JP Van Wyk 4 Steps in Solving Monohybrid Genetic problems Determine the dominant characteristic. Determine the key i.e. symbol/letter to be used. Determine the phenotypes and genotypes of the parents. Determine the alleles of each gamete after meiosis Determine the alleles of the zygote after fertilization –F1 - genotype Describe the phenotypes of the F1 - generation Telematics Life Sciences 2012 5 Template Characteristic:…………………………….. Variation (Phenotype) of characteristic:…………………………… Genetic variation (alleles) ………………………………….. Type of dominance:………………………………………… P1 Phenotype ____________ x ______________ Genotype _____________ x _______________ Meiosis Gametes ___, ___, ___, ___ x ___, ___, ___, ___ Fertilisation F1 Punnet diagram Genotype _____________________Ratio: _____________ Phenotype ____________________ Ratio: ______________ Telematics Life Sciences 2012 6 Complete dominance P1 phenotype genotype Tall x Short TT x tt (Mendel’s Law of Segregation) Meiosis Gametes T t Fertilisation F 1 Genotype: Tt (Principle of dominance) Phenotype: Tall (Individuals of F1 all display the dominant characteristic) Telematics Life Sciences 2012 7 Complete dominance P 2 phenotype genotype Tall x Tt Tall x Tt Meiosis Gametes T Fertilisation F 2 Genotype: Phenotype: t and T and T t T TT t Tt Tt tt TT, Tall Tt, Tall Gametes Tt, Tall t tt Short Telematics Life Sciences 2012 8 Incomplete dominance P1 phenotype genotype Red x White RR x WW Meiosis Gametes R W Fertilisation F 1 Genotype: RW Phenotype: Pink (Offspring have intermediate forms of traits of parents) Telematics Life Sciences 2012 9 Co-dominance P1 phenotype genotype Red x White RR x WW Meiosis Gametes R W Fertilisation F 1 Genotype: RW Phenotype: Roan (both red and white) (Both alleles are equally dominant and are expressed equally in the phenotype) Telematics Life Sciences 2012 10 Blood groups Blood group (Phenotype) A Alleles (Genotype) IAIA or IAi B IBIB or IBi AB IAIB O ii Telematics Life Sciences 2012 11 Blood Groups A man with blood group AB marries a woman with blood group O. Predict the nature of their possible offspring P 2 phenotype genotype AB IAIB x O x ii Meiosis Gametes Fertilisation IA IB and Gametes i i i IA IAi IB IBi IAi IBi F 2 Genotype: IAi Phenotype: Blood group A and and I Bi Blood group B Telematics Life Sciences 2012 12 Inheritance of sex A couple want to know what their chances are of having a baby girl/boy P 2 phenotype genotype Male XY x Female x XX Meiosis Gametes X Fertilisation F 2 Genotype: Phenotype: Y and X and X X X XX Y XY XX XY XX, Girl XX, Girl Gametes XY, Boy X XY Boy Telematics Life Sciences 2012 13 Haemophilia Sex – linked disease. Haemophilia is caused by a recessive allele on the X-chromosome. Males have only one X-chromosome – they mainly suffer from this disorder. Cross a mother who is normal but a carrier with a haemophiliac father. P 2 phenotype genotype Male x X hY Female X HX h x Meiosis Gametes Xh Fertilisation and Gametes XH Xh F 2 Genotype: Phenotype: XH Y and Xh X HX h Y X HY X hX h X hY X HXh, Normal female Xh X hX h, haemophilia female Telematics Life Sciences 2012 X HY, Normal male X hY Haemophilia male 14 Pedigree diagrams Shows the pattern of inheritance of characteristics over a few generations Follow the following steps when interpreting pedigree diagrams Study any key and opening statement/s and look for dominant characteristics and phenotypes Write in the phenotypes of all the individuals as given in the problem. Fill in the genotype of all the individuals with the recessive condition- it has to have 2 lower case letters e.g. ff For every individual in the diagram that has the recessive condition, it means that each gene was obtained from each of the parents. Work backwards and fill in one recessive gene for each parent. If the parents showed the dominant characteristic fill in the second letter which has to be a capital letter. Any other individual showing the dominant characteristic will most likely be homozygous dominant – two capital letters Telematics Life Sciences 2012 15 Example 1 – earlobes Please note: Unattached earlobes are dominant (F) and Attached earlobes are recessive (f)– complete missing genotypes ff ff Ff Ff Ff ff Ff ff Ff ff Key: Male with attached earlobes Male with unattached earlobes Female with attached earlobes ff Ff Female with unattached earlobes Telematics Life Sciences 2012 16 Example 2 – Albinism Please note : Albinism (a) is caused by a recessive allele Use symbols A and a to complete the following pedigree diagram Aa Aa Aa aa aa AA or Aa Key: Aa Aa or AA Male Female Female albino Male albino Telematics Life Sciences 2012 17 Activity 1 Complete the following activity in pairs In humans, the ability to roll the tongue is because of a dominant gene. Use the letters (R) to represent rolling and (r) for non –rolling and show diagrammatically, by means of a genetic cross, how a man who is a roller, who marries a woman who is also a roller, may have a girl who cannot roll her tongue. Telematics Life Sciences 2012 18 Activity 1 Answer P 1 phenotype Roller genotype x Rr Roller x Rr Meiosis Gametes R Fertilisation r and Gametes R r F 1 Genotype: Phenotype: R and R RR r Rr Rr rr RR, Rr, Roller Roller Rr, Roller r rr Non- roller Telematics Life Sciences 2012 19 Activity 2 Complete the following activity in pairs The diagram below shows the inheritance of eye colour in humans. Brown (B) eye colour is dominant over blue (b). Individual 2 is homozygous. Use the letters B and b and write down the phenotypes and genotypes of individuals. 2 Key: Male with brown eyes Male with blue eyes Female with brown eyes Female with blue eyes Telematics Life Sciences 2012 20 Activity 2 Complete the following activity in pairs The diagram below shows the inheritance of eye colour in humans. Brown (B) eye colour is dominant over blue (b). Individual 2 is homozygous. Use the letters B and b and write down the phenotypes and genotypes of individuals BB bb Blue Brown Bb Bb Brown Brown bb Blue Key: Male with brown eyes Male with blue eyes Female with brown eyes bb Bb bb bb Bb Blue Brown Female with blue eyes Blue Brown Life Blue Telematics Sciences 2012 21 Sex-Linked Traits Sex DeterminationXX – female XY – male Traits controlled by genes on the X or Y chromosomes are sex-linked An allele is termed X-linked. Telematics Life Sciences 2012 22 Hemophilia Hemophilia refers to the lack of one of several clotting factors that leads to excessive bleeding in affected individuals. Hemophiliacs bleed externally after injury, but also bleed internally around joints. Hemorrhages can be stopped with blood transfusions or a biotechnology clotting factor. Telematics Life Sciences 2012 23 Color Blindness Three types of cones are in the retina detecting red, green, or blue. Genes for blue cones are autosomal; those for red and green cones are on the X chromosome. Males are much more likely to have redgreen color blindness than females. Telematics Life Sciences 2012 24 X-Linked Alleles The key for an X-linked problem shows the allele attached to the X as in: XB = normal vision Xb = colour blindness. Females with the genotype XBXb are carriers because they appear to be normal but each son has a 50% chance of being colour blind depending on which allele the son receives. XbXb and XbY are both colorblind. Telematics Life Sciences 2012 25 Telematics Life Sciences 2012 26 Telematics Life Sciences 2012 27