1. Abnormal meiosis Sometimes mistakes occur during meiosis –Segments of chromosome (block of genes) can be lost or added – chromosome mutation / aberration –Cell may be missing a chromosome or have an extra chromosome (aneuploidy – incorrect number of chromosomes) – Plant cells have more than 2n sets of chromosomes in nucleus (3n, 4n – called polyploidy) Examples of aneuploidy –Down’s syndrome (3 x chromosome 21- trisomy) –Turner’s syndrome (female has 1 X chromosome – monosomy) –Klinefelter’s syndrome (3 x sex chromosome – XXY) 1 T. Botha Telematics Life Sciences 20 11

2. How aneuploidy happens Aneuploidy – Trisomy – chromosome 21 Chromosomes of homologous pair 21 do not separate during meiosis One gamete (♀) may have two chromosomes for chromosome 21 and the other (♀) does not have a chromosome 21. Fertilisation: 2 x 21 (♀) + 1 x 21 (♂) = 3 x chromosomes 21 Extra chromosome 21 (trisomy) - baby This process is called non-disjunction (failure to separate) 2 T. Botha Telematics Life Sciences 2011

3. The diagram below shows an abnormality during a certain phase of meiosis with the number 21 chromosome pair (labelled A). 1. What is the specific purpose of this phase of the cell division? 2. What specific genetic condition does this abnormality (shown by A) cause? 3.Give TWO symptoms of this genetic disorder. 4.People with this condition are often sterile. Explain why you think this is so. 3 T. Botha Telematics Life Sciences 2011

4. Karyotype 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 Karyotype of a person with a genetic disorder 4 T. Botha Telematics Life Sciences 2011

5. How aneuploidy happens Aneuploidy – Sex cells - Trisomy and Monosomy Chromosomes of homologous pair 23 do not separate during meiosis One gamete (♀) may have two chromosomes for chromosome 23 and the other (♀) does not have a chromosome 23. Fertilisation: 2 chromosomes 23 (♀) + 1 chromosome (♂) = 3 chromosome 23 Extra chromosome 23 (trisomy - XXY) AND Fertilisation: 0 (♀) + 1 (♂) = 1 X chromosome 23 Only ONE X chromosome (monosomy - X0) 5 T. Botha Telematics Life Sciences 2011

6. How aneuploidy happens Polyploidy – Plant cells with more than the diploid set of Chromosomes Chromosomes of all the homologous pairs of one organism do not separate during meiosis One gamete (♀) may have two sets of chromosomes. Fertilisation: 2n (♀) + n (♂) = 3n (triploid) OR Self pollination and Fertilisation: 2n + 2n = 4n (tetraploid) 6 T. Botha Telematics Life Sciences 2011

7. Polyploidy Common in plants and rare in animals Can occurs spontaneously – natural polyploids forming – sympatric speciation – plant evolution Artificially - plant breeding for agriculture – ± 47 % of flowering plants are polyploids e.g. wheat, corn, bananas and apples – specially developed / breed Cells of polyploidy plants are bigger – results in bigger fruits, flowers and plants. Tetraploid apples can be twice the size of diploid apples 7 T. Botha Telematics Life Sciences 2011

8. 23-8 Many genetic disorders and other traits are inherited according to laws first established by Gregor Mendel. Inheritance is often more complex, providing exceptions to Mendel’s laws but helping to explain an even wider variety in patterns of gene inheritance. T. Botha Telematics Life Sciences 2011 Beyond Simple Inheritance Patterns 8

9. 9 1.Polygenic Inheritance Polygenic traits are governed by more than one gene pair. On different loci. The inheritance of skin color, determined by an unknown number of gene pairs, is another example of polygenic inheritance. Height is another example of polygenic inheritance T. Botha Telematics Life Sciences 2011 9

10. 23-1010 T. Botha Telematics Life Sciences 2011

11. 23-11 Multiple Allelic Traits More than two alternative alleles exist for a particular gene locus. blood type is an example 11T. Botha Telematics Life Sciences 2011

12. 23-12 ABO Blood Types Alleles – I A,I B,I GenotypePhenotype I A I A A I A iA I B I B B I B iB I A I B AB i i O 12 T. Botha Telematics Life Sciences 2011

13. 23-13 What are the possible blood types of children from a mother with type A blood and a father with type B blood? 13 T. Botha Telematics Life Sciences 2011

14. 23-1414 T. Botha Telematics Life Sciences 2011

15. 23-15 Codominance -both alleles are equally expressed in a heterozygote. (blood type AB) Incomplete dominance - heterozygote shows an intermediate phenotype (pink snapdragon flowers; sickle cell anemia) 15 T. Botha Telematics Life Sciences 2011

16. 23-1616 T. Botha Telematics Life Sciences 2011

17. 17 Homohybrid Crosses In Homohybrid crosses, one trait is considered. When performing crosses, the original parents are called the parental generation, or the P generation. All of their children are the filial generation, or F generation. T. Botha Telematics Life Sciences 2011

18. 18 T. Botha Telematics Life Sciences 2011

19. 19 If you know the genotype of the parents, it is possible to determine the gametes and use a Punnett square to determine the phenotypic ratio among the offspring. This ratio is used to state the chances of a particular phenotype. T. Botha Telematics Life Sciences 2011

20. 20 Monohybrid cross T. Botha Telematics Life Sciences 2011

21. Sex-Linked Traits Sex Determination- XX – female XY – male Traits controlled by genes on the X or Y chromosomes are sex-linked An allele is termed X-linked. 21 T. Botha Telematics Life Sciences 2011

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. 22 T. Botha Telematics Life Sciences 2011

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 red- green color blindness than females. About 8% of Caucasian men have red- green color blindness. 23 T. Botha Telematics Life Sciences 2011

24. X-Linked Disorders 24 T. Botha Telematics Life Sciences 2011

25. X-Linked Alleles The key for an X-linked problem shows the allele attached to the X as in: X B = normal vision X b = colour blindness. Females with the genotype X B X b 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. X b X b and X b Y are both colorblind. 25 T. Botha Telematics Life Sciences 2011

26. 26 T. Botha Telematics Life Sciences 2011

27. 27 T. Botha Telematics Life Sciences 2011