Non-Mendelian Patterns of Inheritance: Incomplete Dominance, Codominance and Sex-Linked Traits 1 Incomplete Dominance F1 hybrids have an appearance somewhat in between the phenotypes of the two parental varieties. Example: snapdragons (flower) red (RR) x white (rr) r r RR = red flower rr = white flower R R 2 Incomplete Dominance r r R Rr Rr R Rr Rr produces the F1 generation All Rr = pink (heterozygous pink) 3 Incomplete Dominance 4 Incomplete Dominance Blending of alleles to produce a different phenotype from either parent 5 Codominance Two alleles are expressed (multiple alleles) in heterozygous individuals. Example: blood type Phenotype 1. type A 2. type B 3. type AB 4. type O = = = = Genotype IAIA or IAi IBIB or IBi IAIB ii 6 Codominance Problem Example: homozygous male Type B (IBIB) x heterozygous female Type A (IAi) IA i IB IAIB IBi IB IAIB IBi 1/2 = IAIB 1/2 = IBi 7 Another Codominance Problem • Example: male Type O (ii) x female type AB (IAIB) IA IB i IAi IBi i IAi IBi 1/2 = IAi 1/2 = IBi 8 Codominance Question: If a boy has a blood type O and his sister has blood type AB, what are the genotypes and phenotypes of their parents? boy - type O (ii) AB (IAIB) X girl - type 9 Codominance Answer: IA IB i i IAIB ii Parents: genotypes = IAi and IBi phenotypes = A and B 10 Pattern of Inheritance Complete Dominance - 1 allele overshadows the other allele in a heterozygous individual Incomplete Dominance – blending of alleles to produce a different phenotype from either parent (Ex. Red rose X White rose = Pink rose) Codominance – both alleles of a gene are expressed (Ex. Red rose X White rose = red/white rose) Incomplete or Codominance? 12 Incomplete or Codominance? 13 More Patterns of Inheritance • • • • • Autosomal inheritance – genes are located on the autosomes, same for both male and female Sex-linked inheritance – genes located on the sex chromosomes, different for male and female Sex-influenced traits – sex hormones create different phenotypes in males and females (Ex. Baldness) Multiple alleles – has more than 2 alleles for the same gene (Ex. blood types) Polygenic inheritance – coded for by many genes (skin color, hair color, height) 14 Blood Type • •• •• •• Multiple Alleles – 3 or more alleles code for a trait Codominant Inheritance Blood types – A, B, AB, O are coded by 3 alleles (A, B, O) Universal Donor – O Universal Recipient – AB RH+ - antigen present RH- - no antigen present 15 16 17 Sex-linked Traits Traits (genes) located on the sex chromosomes Sex chromosomes are X and Y XX genotype for females XY genotype for males Many sex-linked traits carried on X chromosome 18 Sex-linked Traits Example: Eye color in fruit flies Sex Chromosomes fruit fly eye color XX chromosome - female Xy chromosome - male 19 Genes on the Male Sex Chromosomes XH XH Y DOMINANT RECESSIVE Xh XHXH XHXh XHY XhY Sex-linked Inheritance Color Blindness – recessive, on X chromosome Normal Vision is dominant Genotypes: XCXC – normal female, non carrier XCXc’ – normal female, carrier (may pass recessive allele on to sons and/or daughters) Xc’Xc’ – colorblind female (will pass recessive allele to all children XCY – normal male Xc’Y – colorblind male (will pass recessive allele to daughters only) ~Hemophilia – bleeder’s disease, recessive, linked to the X chromosome Protein Factor VIII or IX is missing but is necessary to clot blood Genotypes: XHXH – normal female, non carrier XHXh – normal female, carrier XhXh – hemophiliac female XHY – normal male XhY – hemophiliac male Female Carriers 24 Sex-linked Trait Problem Example: Eye color in fruit flies (red-eyed male) x (white-eyed female) XRY x XrXr Remember: the Y chromosome in males does not carry traits. Xr Xr RR = red eyed Rr = red eyed R X rr = white eyed XY = male Y XX = female 25 Sex-linked Trait Solution: Xr XR XR Xr Y Xr Y Xr XR Xr Xr Y 50% red eyed female 50% white eyed male 26 Pedigrees Making a Pedigree A family tree traces a family name and various family members through successive generations. Through a family tree, you can identify the relationships among your cousins, aunts, uncles, grandparents, and great-grandparents. Pedigrees Illustrate Inheritance A pedigree is a graphic representation of genetic inheritance. It is a diagram made up of a set of symbols that identify males and females, individuals affected by the trait being studied, and family relationships. Pedigrees Illustrate Inheritance Male Parents Female Siblings Affected male Affected female Mating Known heterozygotes for recessive allele Death Human Heredity Pedigrees Illustrate Inheritance I Female Male 1 2 II 2 1 3 4 5 In a pedigree, a circle represents a female; a square represents a male. III ? 1 2 4 3 IV 1 2 3 4 5 Highlighted circles and squares represent individuals showing the trait being studied. Circles and squares that are not highlighted designate individuals that do not show the trait. Human Heredity Pedigrees Illustrate Inheritance A half-shaded circle or square represents a carrier, a heterozygous individual. Human Heredity Pedigrees Illustrate Inheritance I 1 2 3 4 II 2 1 5 III ? 1 2 4 3 IV 1 2 3 4 5 A horizontal line connecting a circle and a square indicates that the individuals are parents, and a vertical line connects parents with their offspring. Each horizontal row of circles and squares in a pedigree designates a generation, with the most recent generation shown at the bottom. The generations are identified in sequence by Roman numerals, and each individual is given an Arabic number. Dd Dd DD Dd Dd dd dd Dd dd dd dd Dd DD DD DD DD DD Dd Dd Dd dd DD Dd Dd Dd Dd Dd dd Dd dd DD Dd Dd dd dd Dd dd dd dd dd dd Hemophilia pedigree beginning with Queen Victoria Genetic Rarities & Abnormalities What can happen when meiosis goes awry… I. Twins a) Identical – develop from the same fertilized egg (zygote), genetically identical, always same sex b) Fraternal – 2 sperm fertilize 2 different eggs, genetically different Conjoined Twins Fusion OR fission in utero Chromosome Theory a) Each gene occupies a specific place on chromosome b) Gene Mapping – locating and mapping the position of a gene on the chromosome c) Gene Linkage – some genes are linked together and are inherited together d) Crossing Over – produces new allele combinations and increases variety Types of Mutations – mistakes a) Germ mutations – occur in gametes. Inheritable (colorblindness, hemophilia) b) Somatic mutations – affect body cell, not inheritable (cancer) c) Chromosomal mutations – most drastic, change in structure or # of chromosomes (Downs’ syndrome) Point Mutations a) Substitution – one base exchanges for another, affects 1 amino acid (Ex. GCA-TCA GCT-TCA b) Insertion (frame shift) – 1 base is inserted, affects several amino acids Ex. (GCA-TCA GCA-GTC-A c) Deletion – base is removed, affects several amino acids Ex. (GCA-TCA GCT-CA Point Mutation Frameshift Mutation Nondisjunction (Chromosomal mutation) – chromosomes do not separate during meiosis Sex Chromosomes i. Turner’s Syndrome – XO – 45 chromosomes, female, sterile ii. Kleinfelter’s syndrome – XXY – 47, XXXY – 48, or XXXXY – 49 chromosomes, male, sterile b) Autosomes i. Down’s syndrome (Trisomy 21) extra 21st chromosome ii. Trisomy 8 and 13 – result in miscarriages a) Karyotypes Nondisjunction Patau’s Syndrome •1 out of 6,000 births •Trisomy 13 •80-90% do not survive past 1 yr old Edward’s Syndrome •Trisomy 18 •Second most common trisomy after down’s syndrome •Only 5% live to age 1 •1 out of 8,000 births •Severely retarded, many die from malformed heart •Polydactyly or syndactyly •“ Cry of the Cat” •Osteogenesis imperfecta •Lobstein syndrome •Brittle bone syndrome •1 in 50,000 births •Severe mental retardation •Low mortality rate Cri du Chat Down’s Syndrome •Trisomy 21 •1 in 700 births •Mental retardation •Males are sterile but females are not XYY-Jacob’s Syndrome a.k.a. “Super Males” • 1 in 1,000 men •Normal appearance, very tall •Low IQ, prone to violence Klinefelter’s Syndrome •XXY •1 in 1,000 •Usually sterile because of low sperm count •Tall, sparse body hair •Suffer from gynecomastiamale breast tissue •Testosterone treatments Turner’s Syndrome •XO genotype—Monosomy X •1 in 2,500 births •Short, sterile •75% result in non-disjunction from the father Other Diseases a) Sickle Cell Anemia – codominant, causes sickle cell shaped red cells in hemoglobin, common in people with African descent b) Tay-Sachs – metabolic disorder, deteriorates brain, death by age 4, recessive is lethal c) Cystic Fibrosis – thick mucus clogs, lungs, pancreas, liver. Death by age 20 without proper diet/medication Sickle cell How to know… Family history (mostly probabilities) Genetic testing (ex: spit test) Karyotyping Amniocentesis Amniocentesis – remove amniotic fluid to check for genetic disorders