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Complex Inheritance and Human Heredity Section 1: Basic Patterns of Human Inheritance Section 2: Complex Patterns of Inheritance Section 3: Chromosomes and Human Heredity Do you look like you mom or dad? Why? Did you inherit more traits from one parent? Click on a lesson name to select. Complex Inheritance and Human Heredity Basic Patterns of Human Inheritance Pedigrees A diagram that traces the inheritance of a particular trait through several generations A Family Tree • To understand how traits are passed on from generation to generation, a pedigree, or a diagram that shows the relationships within a family, is used. In a pedigree, a circle represents a female, and a square represents a male. A filled-in circle or square shows that the individual has the trait being studied. The horizontal line that connects a circle and a square represents a marriage. The vertical line(s) and brackets below that line show the child(ren) of that couple. 1.Which parent has F= free earlobes f= attached attached ear lobes? 2.How many children do the parents have? Which child has attached ear lobes? Go to Section: 3.Which child is married? Does this child’s spouse have attached ear lobes? Do any of this child’s children have attached ear lobes? Complex Inheritance and Human Heredity Human genetics Recessive Genetic Disorders A recessive trait is expressed when the individual is homozygous recessive for the trait. Protein is not made if you are recessive! Complex Inheritance and Human Heredity Basic Patterns of Human Inheritance Cystic Fibrosis Affects the mucus-producing glands, digestive enzymes, and sweat glands Chloride ions are not absorbed into the cells of a person with cystic fibrosis but are excreted in the sweat. Without sufficient chloride ions in the cells, a thick mucus is secreted. The Cause of Cystic Fibrosis Chromosome #7 CFTR gene The most common allele that causes cystic fibrosis is missing 3 DNA bases. As a result, the amino acid phenylalanine is missing from the CFTR protein. Normal CFTR is a chloride ion channel in cell membranes. Abnormal CFTR cannot be transported to the cell membrane. The cells in the person’s airways are unable to transport chloride ions. As a result, the airways become clogged with a thick mucus. Complex Inheritance and Human Heredity Basic Patterns of Human Inheritance Albinism Caused by altered genes (epistasis), resulting in the absence of the skin pigment melanin in hair and eyes. White hair Very pale skin Pink pupils Complex Inheritance and Human Heredity Basic Patterns of Human Inheritance Karyotype Pictures of your chromosomes organized by size. Homologues are put together. Extra or missing chromosomes can be seen. Male or female? How many autosomes are there? How many chromosomes? Section 14-2 How many sex chromosomes? Sex of the person? How many autosomes are there? How many chromosomes? How many sex chromosomes? Sex of the person? What is this called? Complex Inheritance and Human Heredity Complex Patterns of Inheritance Codominance Both alleles are expressed in the heterozygous condition. Blood type demo and worksheet Complex Inheritance and Human Heredity Complex Patterns of Inheritance N=normal S=sickle Sickle-cell Disease –Codominant 3 genotypes: NN=normal SS=sickle NS = heterozygous Normal red blood cell Changes in hemoglobin cause red blood cells to change to a sickle shape. People who are heterozygous (NS) for the trait have both normal and sickleshaped cells Malaria- relationship Sickle cell 7766x Figure 14-4 Blood Groups Phenotype (Blood Type Genotype Antigen on Red Blood Cell Safe Transfusions To From Complex Inheritance and Human Heredity Complex Patterns of Inheritance Multiple Alleles ABO blood groups have three forms of alleles. IA IB i Rh blood groups - Rh factor contains the Rh antigen and can cause problems when given Rh- people were given Rh+ blood. This trait is also controlled by multiple alleles (8). Transfusion activity! - Who will survive? Complex Inheritance and Human Heredity Complex Patterns of Inheritance Coat Color of Rabbits Multiple alleles can demonstrate a hierarchy of dominance. In rabbits, four alleles code for coat color: C, cch, ch, and c. Complex Inheritance and Human Heredity Complex Patterns of Inheritance Coat Color of Rabbits Chinchilla Albino Light gray Dark gray Himalayan Complex Inheritance and Human Heredity Complex Patterns of Inheritance Incomplete Dominance The heterozygous phenotype is an intermediate phenotype between the two homozygous phenotypes. Complex Inheritance and Human Heredity Complex Patterns of Inheritance Polygenic Traits Polygenic traits arise from the interaction of multiple pairs of genes. On a sheet of paper, construct a Punnett square for the following cross: XX x XY. Fill in the Punnett square. What does the Punnett square represent? According to the Punnett square, what percentage of the offspring from this genetic cross will be males? What percentage will be females? Complex Inheritance and Human Heredity Complex Patterns of Inheritance Sex Determination Sex chromosomes determine an individual’s gender. Males XY Females XX Complex Inheritance and Human Heredity Complex Patterns of Inheritance The X chromosome carries a variety of genes that are necessary for the development of both females and males. The Y chromosome mainly has genes that relate to the development of male characteristics. (Testes Determining Factor) Chromosome inactivation –one X in every female cell is turned off Barr bodies –turned off X chromosome FYI calico cats-only females Sex- influenced traits - Baldness occurs more often in males than in females. It could be due to the differences in male and female hormones. Complex Inheritance and Human Heredity Complex Patterns of Inheritance Sex-Linked Traits Genes located on the X chromosome (recessive) Red-green color blindness -limited color vision; mostly in males Color blind test Hemophilia – no AHF (anti-hemophilic factor) Also called bleeders disease. Muscular Dystrophy- incorrect protein (dystrophin) Mutant gene causes the wasting away of skeletal muscles. Many types of MD. Duchenne’s is usually fatal by age 20 due to cardiac failure. 1 in 4,000 males effected Sex-Linked Traits Colorblindness Father (normal vision) Colorblind Normal vision Male Female Daughter (normal vision) Son (normal vision) Daughter (carrier) Son (colorblind) Mother (carrier) n = normal color vision p = little color vision 1. What individuals have normal vision? 2. Which people are color-blind? 1 2 3. Which are carriers? 4 3 9 10 11 5 12 6 7 8 13 14 Complex Inheritance and Human Heredity Environmental Influences on genes Environmental factors Diet and exercise Sunlight and water Temperature Karyotype—pictures of the pairs of homologous chromosomes are arranged in decreasing size. Used to identify chromosome disorders. Complex Inheritance and Human Heredity Chromosomes and Human Heredity Nondisjunction Cell division during which sister chromatids fail to separate properly Down syndrome- Chromosome disorder where individuals have an extra 21st chromosome. Also called trisomy 21. 1out of 800 babies are born with this. Caused by non-disjunction during meiosis. Visualizing Nondisjunction • On a sheet of paper, construct a Punnett square for the following cross: XXX x XY. Fill in the Punnett square. How is this Punnett square different from the first one you constructed? How is this different from a normal punnett square? Disjunction disorders - Sex chromosomes do not separate properly during meiosis. 1. Turner syndrome - XO genotype. Female is sterile. 2. Klinefelter syndrome - XXY genotype. Males are sterile with immature sex organs and some female characteristics. 3. Metafemale - XXX genotype . Females tend to have learning disabilities and may enter menopause early or have cycle irregularities. Most have no affects from this. What union of gametes would have produced the above disorders? 4. XYY - Normal male, but may be taller than average. Controversy about these males being antisocial and aggressive and a link to some crimes. Complex Inheritance and Human Heredity Complex Inheritance and Human Heredity Complex Patterns of Inheritance Twin Studies Helps scientists separate genetic contributions from environmental contributions Traits that appear frequently in identical twins are at least partially controlled by heredity. Traits expressed differently in identical twins are strongly influenced by environment. Chapter 11 Complex Inheritance and Human Heredity Chapter Resource Menu Chapter Diagnostic Questions Formative Test Questions Chapter Assessment Questions Standardized Test Practice biologygmh.com Glencoe Biology Transparencies Image Bank Vocabulary Animation Click on a hyperlink to view the corresponding lesson. Chapter 11 Complex Inheritance and Human Heredity Chapter Diagnostic Questions Identify the disease characterized by the absence of melanin. A. albinism B. cystic fibrosis C. galactosemia D. Tay-Sachs Chapter 11 Complex Inheritance and Human Heredity Chapter Diagnostic Questions An individual with Tay-Sachs disease would be identified by which symptom? A. excessive mucus production B. an enlarged liver C. a cherry-red spot on the back of the eye D. vision problems Chapter 11 Complex Inheritance and Human Heredity Chapter Diagnostic Questions Under what circumstances will a recessive trait be expressed? A. A recessive allele is passed on by both parents. B. One parent passes on the recessive allele. C. The individual is heterozygous for the trait. D. There is a mutation in the dominant gene. Chapter 11 Complex Inheritance and Human Heredity 11.1 Formative Questions Which of Dr. Garrod’s observations about alkaptonuria was most critical to his determination that it is a genetic disorder? A. It appears at birth and runs in families. B. It is linked to an enzyme deficiency. C. It continues throughout a patient’s life, affecting bones and joints. D. It is caused by acid excretion and results in black urine. Chapter 11 Complex Inheritance and Human Heredity 11.1 Formative Questions Which is the genotype of a person who is a carrier for a recessive genetic disorder? A. DD B. Dd C. dd D. dE Chapter 11 Complex Inheritance and Human Heredity 11.1 Formative Questions Albinism is a recessive condition. If an albino squirrel is born to parents that both have normal fur color, what can you conclude about the genotype of the parents? A. at least one parent is a carrier B. both parents are carriers C. both parents are homozygous recessive D. at least one parent is homozygous dominant Chapter 11 Complex Inheritance and Human Heredity 11.2 Formative Questions When a homozygous male animal with black fur is crossed with a homozygous female with white fur, they have offspring with gray fur. What type of inheritance does this represent? A. dosage compensation B. incomplete dominance C. multiple alleles D. sex-linked Chapter 11 Complex Inheritance and Human Heredity 11.2 Formative Questions Of the 23 pairs of chromosomes in human cells, one pair is the _______. A. autosomes B. Barr bodies C. monosomes D. sex chromosomes Chapter 11 Complex Inheritance and Human Heredity 11.2 Formative Questions Which is an example of a polygenic trait? A. blood type B. color blindness C. hemophilia D. skin color Chapter 11 Complex Inheritance and Human Heredity 11.3 Formative Questions What does a karyotype show? A. The blood type of an individual. B. The locations of genes on a chromosome. C. The cell’s chromosomes arranged in order. D. The phenotype of individuals in a pedigree. Chapter 11 Complex Inheritance and Human Heredity 11.3 Formative Questions What is occurring in this diagram? A. multiple alleles B. nondisjunction C. nonsynapsis D. trisomy Chapter 11 Complex Inheritance and Human Heredity 11.3 Formative Questions What condition occurs when a person’s cells have an extra copy of chromosome 21? A. Down syndrome B. Klinefelter’s syndrome C. Tay-Sachs syndrome D. Turner’s syndrome Chapter 11 Complex Inheritance and Human Heredity Chapter Assessment Questions Use the figure to describe what the top horizontal line between numbers 1 and 2 indicates. A. 1 and 2 are siblings B. 1 and 2 are parents C. 1 and 2 are offspring D. 1 and 2 are carriers Chapter 11 Complex Inheritance and Human Heredity Chapter Assessment Questions Which is not an allele in the ABO blood group? A. IA B. IO C. IB D. i Chapter 11 Complex Inheritance and Human Heredity Chapter Assessment Questions Down Syndrome results from what change in chromosomes? A. one less chromosome on pair 12 B. one extra chromosome on pair 21 C. one less chromosome on pair 21 D. one extra chromosome on pair 12 Chapter 11 Complex Inheritance and Human Heredity Standardized Test Practice If a genetic disorder is caused by a dominant allele, what is the genotype of those who do not have the disorder? A. heterozygous B. homozygous dominant C. homozygous recessive Chapter 11 Complex Inheritance and Human Heredity Standardized Test Practice Analyze this pedigree showing the inheritance of a dominant genetic disorder. Which would be the genotype of the first generation father? A. RR B. Rr C. rr Chapter 11 Complex Inheritance and Human Heredity Standardized Test Practice Shorthorn cattle have an allele for both red and white hair. When a red-haired cow is crossed with a white-haired bull, their calf has both red and white hairs scattered over its body. What type of inheritance does this represent? A. codominance B. dosage compensation C. epistasis D. sex-linked Chapter 11 Complex Inheritance and Human Heredity Standardized Test Practice Why are males affected by recessive sexlinked traits more often than are females? A. Males have only one X chromosome. B. Males have two X chromosomes. C. Males have only one Y chromosome. D. The traits are located on the Y chromosomes. Chapter 11 Complex Inheritance and Human Heredity Standardized Test Practice A carrier of hemophilia and her husband, who is unaffected by the condition, are expecting a son. What is the probability that their son will have hemophilia? A. 25% B. 50% C. 75% D. 100% Chapter 11 Complex Inheritance and Human Heredity Glencoe Biology Transparencies Chapter 11 Complex Inheritance and Human Heredity Image Bank Chapter 11 Complex Inheritance and Human Heredity Vocabulary Section 1 carrier pedigree Chapter 11 Complex Inheritance and Human Heredity Vocabulary Section 2 incomplete dominance codominance multiple alleles epistasis sex chromosome autosome sex-linked trait polygenic trait Chapter 11 Complex Inheritance and Human Heredity Vocabulary Section 3 karyotype telomere nondisjunction Chapter 11 Complex Inheritance and Human Heredity Animation Visualizing Nondisjunction