Study Guide: Chapter 3 and 4 TEST Tuesday 11/03/15 Mendelian and non-Mendelian Inheritance, Punnett Squares, Pedigree Analysis, and Chi-Square. Be able to CREATE and DESCRIBE MONOHYBRID and DIHYBRID crosses, including genotype and phenotype ratios. Be able to INDEPENDENTLY ASSORT alleles for a TRIHYBRID cross (no test cross). Know your VOCABULARY for BOTH chapters! That which is inherited and expressed from generation to generation CHARACTERISTIC/TRAIT Options of a trait that are present in a diploid organism UNIT FACTORS/ALLELES Contains the information for creating proteins GENE The separation of sister chromatids during meiosis that separates alleles to create haploid cells SEGREGATION Physical expression of a gene; what you see PHENOTYPE What is coded in the DNA GENOTYPE The inheritance of identical alleles for a trait (HH, hh) HOMOZYGOUS The inheritance of 2 different alleles for a trait (Hh) HETEROZYGOUS The expression of type O blood when the A or B allele is present BOMBAY PHENOTYPE The joint expression of BOTH alleles in a heterozygote CODOMINANCE Expression of one gene or gene pair modifies the expression of another gene EPISTASIS The theory that several genes influence a characteristic GENE INTERACTION The progressively earlier onset and severity of a disorder from generation to generation GENETIC ANTICIPATION A condition of males since they do not carry 2 homozygous sex chromosomes HEMIZYGOUS The intermediate expression of 2 different alleles (pink) INCOMPLETE DOMINANCE A mutation that results in the death of the organism, usually before they can reproduce LETHAL ALLELE An offspring's phenotype is under the control of gene products in the egg MATERNAL EFFECT When 3 or more alleles of the same gene are present that impact the phenotype expression MULTIPLE ALLELES Allele that results in complete loss of function NULL ALLELE Extranuclear inheritance through the mitochondrial or chloroplast DNA ORGANELLE HEREDITY The expression of a single gene has multiple phenotype effects PLEIOTROPY Expression of genes is influenced by the sex hormone concentration of the individual SEX-INFLUENCED INHERITANCE The allele that occurs most frequently in a population WILD-TYPE ALLELE Genes that are inherited on the X chromosome show a unique inheritance pattern X-LINKAGE Describe Mendel’s Postulates Unit factors occur in pairs Dominant/Recessive Segregation Independent Assortment – for more than 2 traits Know the COMMONLY used symbols for Pedigree Analysis Be able to analyze pedigree chart for mode of inheritance. Differentiate between INCOMPLETE and CODOMINANCE Review blood group inheritance and be able to solve problems related to blood group inheritance. ABO: Gene found on chromosome #9; 3 alleles present; A and B are codominant to each other but dominant to the O allele which is recessive. MN: Gene found on chromosome #4; M and N are codominant to each other. Rh Factor: Gene found on chromosome #4; Rh+ is dominant, Rh- is recessive Be able to describe the significant inheritance pattern for the following human conditions: Tay-Sach’s Disease: late onset – early childhood; lethal Huntington Disease: late onset – middle age; lethal Duchenne muscular dystrophy: late onset – symptoms begin in childhood; lethal Lesch-Nyhan syndrome: late onset – symptoms begin in early childhood; not lethal Color blindness: sex-linked Male pattern baldness: sex-influenced due to hormonal influence MERRF: mitochondrial (organelle) heredity Describe the issues surrounding sex-linked (X-linkage) inheritance in human males: Because males only inherit a single X chromosome, inheriting a single defective copy allows the gene to be expressed where females require 2 copies of the recessive allele to be affected by the gene Describe the significance of mitochondrial DNA in term of human disease and inheritance. How is mtDNA passed from parents to offspring? From mother to all her children. Females contribute mitochondria to all offspring through the fertilized egg. Why is mtDNA vulnerable to mutations? Lacks proofreading enzymes to correct mistakes, lacks the nuclear membrane to limit exposure to mutagens, found in the cytosol where a high level of mutagens can be found. What VITAL biochemical process is faulty when mutations occur in mtDNA? Aerobic cellular respiration, mainly the Kreb’s Cycle and ETC Practice 1. In rabbits, white fur color (W) is dominant to black, and long ears (L) are dominant to short. Draw a Punnett square that represents the cross between two rabbits heterozygous for both traits. What are the phenotype and genotype ratios? WwLl x WwLl Assorted gametes = WL Wl wL wl WL Wl wL wl WL WWLL WWLl WwLL WwLl Wl WWLl WWll WwLl Wwll wL WwLL WwLl wwLl wwLl wl WwLl Wwll wwLl wwll