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29 Heredity 29 Heredity = sources of genetic variation Work together...In genetic n = haploid (23) terms, what is the human life cycle? 2n = diploid (46) n n 2n EXERCISE YOUR BRAIN... What are the advantages to sexual reproduction? Disadvantages? Advantages of Sexual Disadvantages of Sexual Reproduction Reproduction 29 Heredity (chromosome pairs 1 -22) karyotype - visual representation of your genetic make-up chromosome from the egg matched with the same chromosome from the sperm (called homologous chromosomes) (pair 23) XY - male XX - female Boy or girl? What can you tell me about this individual? dominant = expressed allele; can mask or suppress recessive allele recessive = only expressed if two recessive alleles are present; can be masked or suppressed by dominant same genes @ same locus (location) each homologous chromosome carries an allele (option) for a gene (characteristic) if the alleles are different (Pp or Yy) = heterozygous if the allele are the same (PP, YY, pp, or yy) = homozygous allele 29 Heredity genotype - genetic makeup (alleles ...What do you know so far? inherited from egg & sperm; letter combo) phenotype - expression of your genotype (use words to describe a characteristic) 1 MATA: Tt A genotype B phenotype C homozygous D heterozygous E dominant F recessive 3 Homologous chromosomes contain the same genes at the same loci, but not necessarily the same alleles for that gene. 2 The physical expression of a trait is called a person's A phenotype B genotype C karyotype D haplotype 4 MATA: A karyotype A is a visual representation of a person's genetic makeup B can reveal chromosomal abnormalities C can reveal gender of an offspring D pair homologous chromosomes together True False 29 Heredity traits A, B, and C are called linked genes because they are located on the same chromosome = sources of genetic variation crossover - breaks occur between the linked genes and recombinant chromosomes are created chromosomes can What gametes were created as the result of crossing over? OR this Pull line up like this Independent Assortment results in 223 different gamete types! Random Fertilization You are 1 out of 72 trillion zygotes possible! 29 Heredity Best 2 out of 3 Just making sure you got the message... Winner...What are three sources of genetic variability in humans? . Pull 5 Chromosomes line up in random order. A crossover B linked genes C independent assortment D random fertilization = sources of genetic variation 6 Linked genes break and create recombinant chromosomes. 7 The MAIN reason siblings can looks so different, and others can looks so similar. A crossover A crossover B linked genes B linked genes C independent assortment C independent assortment D random fertilization D random fertilization PUNNETT SQUARES *show what could happen during fertilization Bb Genotypes: Bb Phenotypes: B = bright Incomplete Dominance - "blended" phenotype NOT COMMON IN HUMANS *heterozygous has its own b = dumb Human Traits Caused by Simple Dominant-Recessive Inheritance 29 Heredity Sickle Cell Anemia *abnormal hemoglobin *mix of normal and abnormal hemoglobin *normal hemoglobin (can have type AB blood) Pull multiple alleles: (3 options instead or 2) Work together...can you figure out each person's genotype? *still get one allele from mom and one from dad Sample Proble 29 Heredity X chromosome Y chromosome 78 genes over 2,500 genes *sex-linked - genes on the sex chromosomes OLDER...Why is blood type an example of multiple alleles? *X-linked - genes found only on the X chromosome *traits past from mother to son...WHY??? YOUNGER...Why is it an example of codominance? LEFT...explain this diagram RIGHT...explain this one red-green colorblindness hemophilia fragile-X syndrome Duchene's muscular dystrophy Human Sex-Linked Traits Polygene Inheritance 8 What type of inheritance pattern can result in a "blended" offspring? A multiple alleles B incomplete dominance C polygene D sex-linked 29 Heredity A multiple alleles multiple alleles B codominance B codominance C dominant-recessive C polygene D sex-linked D sex-linked A Environmental Factors in Gene Expression Pre-Birth Changes due to... • maternal drug use or pathogens GENOTYPES EXAMPLE Post-Birth Changes due to... • poor/inadequate diet • hormonal deficiencies PHENOTYPES - Nontraditional Inheritance - Small RNAs Epigenetic marks - chemicals or protein modifications that influence gene expression *help regulate gene expression (protein formation) *gene off limits *determines how accessible DNA is for transcription *mutations in RNA-only areas linked to prostate and lung cancer, schizophrenia *lots of research into synthesizing RNA-interfering drugs to silence or shut down genes (macular degeneration, Parkinson's disease, cancer) *can be influenced by diet, age, exercise, stress, etc. thalidomide babies 10 What type of inheritance occurs when traits are most often passed from mother to son? cretinism 9 What type of inheritance pattern can result in a wide range of phenotypes, with most individuals somewhere in the middle range? 29 Heredity mitochondrial DNA (mtDNA) - 37 genes • passed from mother to offspring Ping Pong Back & FOrth describing extranuclear influences on gene expression. 11 Genotypes do not change, but phenotypes can be influenced. 12 All of the following are extranuclear ways to regulate gene expression EXCEPT True False A small RNAs B methylation of DNA C modification to histones D mutations Fetal Testing Pedigree for Cystic Fibrosis Let's figure out the genotypes of the individuals in the fourth and third rows. START HERE *pedigrees are used to determine the likelihood of being a carrier (heterozygous) and to determine the inheritance pattern of a trait *carriers are not affected but can pass the trait on to their offspring CAN ALSO BE DETERMINED USING A BLOOD TEST (not for all traits) *takes longer, less risk to fetus 29 Heredity GENE Fetal Testing - Ultrasound THERAPY *embryonic stem 13 Name this fetal test. 14 What type of inheritance pattern is depicted in this pedigree? A dominant B recessive C sex-linked D incomplete *Huntington's Disease