12Diseases from Nondisjunction Down’s syndrome extra 21Trisomy 13 (Patau Syndrome)Klinefelter’s syndrome 47 XXYTurner Syndrome 45XEdwards Syndrome Trisomy 18Cri-du-Chat Syndrome missing part of Chromosome # Link
401. Cystic Fibrosis (CF) Defective protein in plasma membrane Mucus clogs lungs, liver, pancreas1/20 white am. are carriers1/2000 white americans born with CFPhysical therapy, special diet, drug therapy, gene therapy raised life exp to adulthood
442. Tay Sachs DiseaseMissing enzyme that breaks down a lipid produced and stored in tissues of the central nervous systemNewborns appear normal for 5 monthsBlind, paralyzed, mentally retarded, die before age 51/1600 Amish and Jews of Eastern European descent
473. Phenylketonuria (PKU) Failure of brain to developAbsence of enzyme that converts phenylalanine to tyrosine, so amino acid builds up in the bodyMost common in people with ancestors from Norway or Sweden
48TestingCan detect in newborns, appear normal at first, but milk is high in phenylalanine
49Special dietAvoid foods with phenylalaninePKU warnings on diet foods
50Mom with PKUCan have high phenylalanine in blood and can damage the fetus even if the fetus is normalControl diet
51Simple Dominant Heredity Six fingersWidow’s PeakFree earlobesTongue rollingUsually lethal genetic disorders result in death before they can be passed on
53Hapsburg LipThe above portrait is of Charles II, who was King of Spain from 1665 to 1700, and who displays this characteristic trait, a trait that was passed down through the Austro-Hungarian monarchy through successive inbreeding.ﾊ The Hapsburg lip deformity affected poor Charles II so badly that he could not chew his food.ﾊ Years of inbreeding had also taken its toll on his intelligence (he was retarded) and his powers of procreation (he was impotent).
551. Huntington’s DiseaseCauses the breakdown of the brain, mental deterioration and loss of muscle controlOnset after age (after had kids!)Can test to see if carrier and can pass to kids and will develop the disease
763. Sex-linked Inheritance Color blindness:XN = Normal Xc = colorblind recessiveNo gene on YXNXc x XNY?XNXc x XcY?
774. Polygenic Inheritance Trait controlled by many genesPhenotypes have a continuous range of variabilityEx: skin color, heightHomozygous recessive = aabbccHomozygous dominant = AABBCCHeterozygous = AaBbCc
825. Multiple PhenotypesTrait controlled by multiple alleles in a populationEach individual gets only 2 allelesEx: Blood Types3 Alleles: IA, IB, i
835. Multiple Phenotypes IA IA or IAi = A Blood IB IB or IBi = B Blood IA IB =AB Bloodi i = O Blood
84Donating Blood Immune system destroys foreign proteins Type AB can accept all blood typesType A can accept ?Type B?Type O?
85Mother and Child Reunion BethSarahBaby 1Baby 2Baby 3Anti-AAnti-BBlood TypePossibleGenotypesActualGenotype
86Questions 1. Which two babies are Beth’s twins? 2. Which baby is Sarah’s?3. Now that you know the mother of each baby, can you narrow down each baby’s genotype?4. What blood type is the twin’s father?5. What are the possible blood types of the father of Sarah’s baby? Explain!
87EnvironmentTemp, light, nutrition, chemicals, and infections can all influence if a gene is actually expressed.Internal Environment changes with age or different hormones.Sex-Influenced trait: expressed differently in males and females
88Sex-influenced Ex: Male Pattern Baldness Genotype Male Female BB Bald BaldBb Bald Not baldbb not notEx: Horn size in mountain sheep, feather color in birds