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Have you taken the latest quiz? When is your next paper due? If you are not sure, you need to Log into PAL Anu Singh-Cundy • Michael L. Cain Discover Biology FIFTH EDITION CHAPTER 13 Chromosomes and Human Genetics © 2012 W. W. Norton & Company, Inc. Genes & Chromosomes Chromosome: one LONG DNA molecule Wrapped around histone proteins Many genes on each chromosome Genes & Chromosomes 23 pairs of chromosomes ~25,000 genes Vocabulary Locus – location of a gene on a chromosome Autosomes – chromosomes that don’t control sex 44 of our 46 chromosomes are autosomes Sex chromosomes – they control our sex 2 of our 46 one X, one that is either X or Y XX=female, XY=male Genes on sex chromosomes Genes on X chromosome women have 2 copies, men have 1 Genes on Y chromosome men have 1 copy, women have none Men don’t like recessive disorders on sex chromosomes!!! SRY: The maleness gene • One gene on Y controls all other genes that cause male traits • No SRY? – Develop as a female Mendel was WRONG!! Mendel’s “law of independent assortment” only if genes are on different chromosomes Some genes are normally inherited together “genetically linked” stuff on the same chromosome Crossing-Over VS Genetic Linkage Genes on same chromosome (linked) normally inherited together crossing over can alter A & C: linked B & C: tightly linked (less likely to separate via crossover) Genetic Linkages cause weird ratios Genes on same chromosome often move together Weird ratios No independent assortment Mendel got lucky: all 7 traits on different chromosomes Pedigree: Who’s your daddy? pedigree: a chart showing genetic relationships for two or more generations Geneticists use to study inheritance Example: Pedigree Chart Pedigree chart for X-linked recessive heterozygote Genetic Disorders Somatic mutations: not passed on to kids Mutations in gametes: can be passed on Sources of genetic disorders: 1. Mutations in individual genes 2. Abnormal chromosome number 3. Gene turned on/off (epigenetics) not in book!!! Single-Gene Mutations • Many are recessive • Can have dominant gene and phenotype look/act normal but carry disease can skip generations Autosomal Recessive Disorders 3:1 = 75% chance of no symptoms recessives more likely to stay in population heterozygotes can pass on without symptoms e.g. lethal recessives passed on Autosomal Dominant Disorders • Affect more of offspring 50% chance of passing on to the children • More rare – If you can’t breed, won’t pass on – Removed via natural selection – Tend to be new mutations Exception: Huntington’s why? Symptoms show up later in life Huntington’s Disease • caused by dominant allele • 50% chance child has • Coordination, cognitive decline Nursing home in middle age • Old Days: give to kids before you know you have • Now: numbers down, genetic testing & counciling Sex linked Mutations on the X or Y chromosome There are about 50 human Y-linked genes and approximately 1,100 human X-linked genes Sex-Linked disorders Less common in women (XX) X linked: 2 copies of recessive before she’s affected Y linked: immune Genes on sex chromosomes Genes on X chromosome women have 2 copies, men have 1 Genes on Y chromosome men have 1 copy, women have none Men don’t like recessive disorders on sex chromosomes!!! Sex-Linked disorders • More common in men X: dominant or recessive, he has it Y: dominant or recessive he has it No other copy of chromosome to block Genetic variation 1. Crossing-over 2. Independent assortment of chromosomes 3. Fertilization Junction: where things come together Disjunction: where things separate Non-disjunction: mistake in separating chromatids during meiosis Nerd Words Aneuploidy = has an unusual number of chromosomes Monosomy = has one copy of a chromosome Trisomy = has three copies of a chromosome Down’s Syndrome is caused by trisomy 21 Syndromes from Aneuploidy Down’s Syndrome = trisomy 21 Edward’s Syndrome = trisomy 18 Kleinfelter’s Syndrome = XXY Turner’s Syndrome = XO XYY Syndrome Ways to alter chromosomes • Misalignment/ separation errors • Can cause insertions, deletions, duplications, translocations, inversions, etc. Pay attention: at least one picture will be on test Ways to alter chromosomes Mistakes in prophase move sections of chromosomes Ways to alter chromosomes Ways to alter chromosomes • Duplication: an important role in evolution two copies: one has original function one mutates to new function Mutation: cause & effect • Can cause mutations: – Mistakes in DNA replication – Collisions of the DNA molecule with other molecules – Damage from heat or chemical agents • Effect: Only mutations in gametes matter if you can’t inherit it, it won’t have an effect on the population (must pass on to cause evolution) Clicker Questions CHAPTER 13 Chromosomes and Human Genetics Concept Quiz Which of the following is not true of homologous chromosomes? A.They contain the same alleles. B.They contain the same genes. C.One came from each parent. D.Each is duplicated during replication. Concept Quiz Genes that are linked on the same chromosome always segregate together. A. True B. False Concept Quiz Autosomal-dominant disorders A. Are carried on the X chromosome. B. Often express late in life. C. Are spread by carriers (heterozygotes) mating. D. Are more common than recessive disorders. Not Happy with your grade? Not understanding the material? Remember that the TLCC has Free Biology Tutoring