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Biology 11E 3.A.4 The inheritance pattern of many traits cannot be explained by simple Mendelian genetics. Name: __________________ 15.1, 15.2, 15.3, 15.5 • Sex-linked genes reside on sex chromosomes (X in humans) • In mammals and flies, the Y chromosome is very small and carries few genes • In mammals and flies, females are XX and males are XY; as such, X-linked recessive traits are always expressed in males • Some traits are sex limited, and expression depends on the sex of the individual, such as milk production in female mammals and pattern baldness in males Chapter 15 – The Chromosomal Basis of Inheritance How does Mendel highlight the importance and necessity of prediction and hypothesis in science? Mendel’s “hereditary factors” were merely an abstract concept when he proposed them in 1860. HE proposed his laws of independent assortment and segregation before it was proved that heredity had a physical basis in chromosomal behaviour. What do the yellow dots in fig.15.1 indicate? They mark the locus of a specific gene on a homologous pair of human chromosomes. The location of a particular gene can be determined by tagging chromosomes with fluorescent dye that highlights the gene. Biology 11E chapter 15 guided notes key Page 1 15.1 The Chromosomal Basis of Mendel’s Laws: *U7. relate chromosome activity to Mendelian segregation and independent assortment According to the Chromosome Theory of inheritance: Mendelian genes have specific loci along chromosomes which undergo segregation and independent assortment. Fig 15.2 below shows the behavior of chromosomes during independent assortment in meiosis and gamete formation. Figure 15.2 Biology 11E chapter 15 guided notes key Page 2 Biology 11E chapter 15 guided notes key Page 3 15.2 Experimentation with wild and white-eyed fruit flies led to the mapping of this gene to the X-chromosome: Which famous scientist did the initial genetic experiments with fruit flies in the early 20th century? _Thomas Hunt Morgan____ Why are fruit flies a good organism to use for genetic studies? Prolific breeders, a single mating produces hundreds of offspring, a new generation every 2 weeks, only has 4 pairs of chromosomes easily distinguishable with a light microscope, (three autosomes and one pair of sex chromosomes) Wild type Drosophila flies had red eyes. The first mutant that Morgan discovered was a male with white eyes. He was able to trace the gene for eye colour to a specific chromosome. Biology 11E chapter 15 guided notes key Page 4 Here is a diagram to illustrate one of Morgan’s first experiments: Drosophila melanogaster cross between a wild type female and a mutant white eyed male. Both were homozygous. Biology 11E chapter 15 guided notes key Page 5 Sex-linked Inheritance 15.2 Genes carried on the X chromosome are inherited differently in males and females. ______________________________________________________________________________ __________________________________________________________________ Biology 11E chapter 15 guided notes key Page 6 The transmission of sex-linked recessive traits follows certain patterns:(15.7) Albinism Fig 15.7 Colour blindness Name 2 other sex linked disorders in humans. Haemophilia Biology 11E chapter 15 guided notes key Page 7 Muscular Dystrophy X-inactivation Since females inherit 2 X chromosomes do females make more proteins encoded for by X chromosomes? ______________________________________________________________________________ ______________________________________________________________________________ ______________________________________________________________________________ ___________________________________________________________________ A test cross involves breeding an organism of unknown genotype with a homozygous recessive individual to determine the unknown genotype. The ratio of the phenotypes in the offspring reveals the unknown genotype. Biology 11E chapter 15 guided notes key Page 8 15.3 Gene Linkage p. 293 *U8. calculate the map distance of a particular gene from a chromosome’s centre or between two genes Linked genes are genes located on the same chromosome that tend to be inherited together. (Do not confuse with sex linked genes referring to a single gene on a sex chromosome. ) The behavior of linked genes is different from Mendel’s Law of Independent Assortment. In the experiment below Morgan investigated gene linkage. Biology 11E chapter 15 guided notes key Page 9 Using a test cross can determine how closely two genes are linked on the same chromosome: Other possible offspring must be a result of crossing over between the two genes and leading to recombinant types. How can we tell how close the two genes are to each other on the chromosome? The recombination frequency is related to the distanced between linked genes. Biology 11E chapter 15 guided notes key Page 10 Note: If genes are not linked then, in a test cross, all possible offspring are possible in equal proportions: Crossing Over produces recombinant chromosomes during prophase I Biology 11E chapter 15 guided notes key Page 11 Frequency of recombination is used to calculate map distance between linked genes Biology 11E chapter 15 guided notes key Page 12 Biology 11E chapter 15 guided notes key Page 13 Summary of how linkage affects inheritance Biology 11E chapter 15 guided notes key Page 14 Use of recombination frequencies to map genes onto a chromosome Examine the research Method in Fig. 15.11 Constructing a Linkage Map. A linkage map shows the relative locations of genes along a chromosome. Explain the results below Here is a partial genetic Linkage Map of a Drosophila Chromosome Biology 11E chapter 15 guided notes key Page 15 15.4 Errors in Chromosomal Inheritance Write an intro: 1. Meiotic Non-disjunction http://www.biostudio.com/d_%20Meiotic%20Nondisjunction%20Meiosis%20I.htm Meiotic non-disjunction leads to abnormal chromosome numbers in the gametes What is aneuploidy? Biology 11E chapter 15 guided notes key Page 16 ______________________________________________________________________________ ______________________________________________________________________________ Give some examples of genetic disorders resulting from aneuploidy: Trisomy 21 ________________________________________________________________ Klinefelter syndrome (XXY)______________________________________________________ XYY males __________________________________________________________________ Trisomy X ____________________________________________________________________ Monosomy X0 (Turner syndrome)__________________________________________________ ______________________________________________________________________________ 2. Polyploidy See Campbell’s Act 15C ______________________________________________________________________________ ______________________________________________________________________________ ______________________________________________________________________________ In which type of organisms is polyploidy relatively common? ___________________________ Fig 15.14 A tetraploid mammal Biology 11E chapter 15 guided notes key Page 17 3. Chromosomal Mutations ______________________________________________________________________________ ______________________________________________________________________________ Some genetic disorders caused by chromosomal mutations (chromosomes are structurally altered): Cri-du-chat (rey of the cat) - a deletion mutation (chromosome 5) ______________________________________________________________________________ Biology 11E chapter 15 guided notes key Page 18 Chronic myelogenous leukaemia - a reciprocal translocation involving parts of chromosomes 22 and 9 ______________________________________________________________________________ Down’s syndrome can be caused by translocation of chromosome 21 onto another chromosome, or by meiotic non-disjunction resulting in 3 complete chromosome 21s. ______________________________________________________________________________ Biology 11E chapter 15 guided notes key Page 19 Epigenetics is the study, in the field of genetics, of cellular and physiological phenotypic trait variations that are caused by external or environmental factors that switch genes on and off and affect how cells read genes instead of being caused by changes in the DNA sequence. What is genomic imprinting? ________________________________________________ Genomic imprinting is the epigenetic phenomenon by which certain genes are expressed in a parent-of-origin-specific manner. If the allele inherited from the father is imprinted, it is thereby silenced, and only the allele from the mother is expressed. If the allele from the mother is imprinted, then only the allele from the father is expressed. Forms of genomic imprinting have been demonstrated in fungi, plants and animals. Genomic imprinting is a fairly rare phenomenon in mammals; most genes are not imprinted Biology 11E chapter 15 guided notes key Page 20 Biology 11E chapter 15 guided notes key Page 21