2Interpreting Pedigrees with Andrew Douch Interpreting Pedigrees the Fast Way –Example 1(6:42)Example 2 (6:46)1. Is anyone with a phenotype different from parents?2.Are there any girls with recessive phenotype who have a father or son with a dominant phenotype?Autosomal Dominant X-linked dominantAutosomal Recessive X-linked recessive
3Autosomal Dominant: trait does not skip generations
11Cystic Fibrosis-ff On Chromosome 7 Autosomal recessive It causes the body to produce a thick, sticky mucus that clogs the lungs and digestive tract.On Chromosome 7Autosomal recessive
12One test is for salty skin CF salt test Salty skin (Mutations of the CFTR gene affect functioning of the chloride ion channels)thin (do not digest well)abnormal bowel movementsCFTR video (8:18) describe 6 mutation disfunctions for 2 pts Ex Cr
13Cystic Fibrosis (cont.) Most common fatal genetic disease in US todayMost common in CaucasiansSmall Child CR Treatment (thumping)Thumping Vest (1:24)Living with CF (3:48)Daily meds
14Cystic Fibrosis Chromosome 7 FF = no CF Ff = carrier ff = has CF (recessive)Life with CF (3:48)
16PKU on chromosome 12 recessive Lacks enzyme to break down the amino acid phenylalanine (found in milk)
17PKU (cont.)The breakdown products can be harmful to developing nervous systemsLeads to mental retardation.Kate with PKU Movie
18PKUChromosome 12Put on low protein dietAvoid phenylalanine
19TAY SACHS Highest rate in Eastern European Jews, next Irish-Americans Results in degeneration of the nervous system.Chromosome 15recessiveHighest rate in Eastern European Jews, next Irish-Americans
20Tay Sachs (cont)Lack enzyme to break down fat, accumulates in brain (poisons it)ttChromosome 15NOVA Online | Cracking the Code of Life | Watch the Program Here #3
21Tay Sachs Disease is a fatal lipid storage disorder where a fatty substance (ganglioside) builds up in the nerve tissue and cells of the brain. This is caused by an insufficient enzyme called beta-hexosaminidase A that catalyzes the biodegration of gangliosides.
22Tay-Sachs SymptomsSymptoms first appear at 4 to 6 months of age when an apparently healthy baby gradually stops smiling, crawling or turning over, loses its ability to grasp or reach out, and eventuallybecomes blind, paralyzed and unaware of its surroundings. Death usually occurs by age 4.Tay-Sachs PT (1:52)
23Albinism Inability to manufacture pigments (melanin) in skin and eyes Autosomal recessive traitChromosome 11
30Sickle Cell Anemia Autosomal dominant disease Chromosome #11 Red blood cells collapse and clot blood vesselsFound in African-Americans
31Sickle-Cells Normal Red Blood Cells-like a donut Sickle-cells collapse, hard, clog vessels
32Sickle-Cell Anemia Codominant SS = disease AS = carrier (somewhat resistant to malaria)AA =normal hemoglobinLiving with SSAPlasmodium in blood - malaria
33Sickle-Cell Complications 1.pain episodes2.strokes3.increased infections4.leg ulcers5.bone damage6.yellow eyes or jaundice7.early gallstones8.lung blockage9.kidney damage and loss of body water in urine10.painful erections in men (priapism)11.blood blockage in the spleen or liver (sequestration)12.eye damage13.low red blood cell counts (anemia)14.delayed growth
34Huntington’s Disease Woody Guthrie’s disease (folksinger 1960’s) Autosomal dominantDoes not manifest itself until age 20’s - 30’sH=dominant disease
35What is the chance of a child of a Huntington Mother having Hungtingtons?
36Huntington’s 40+ CAG’s (build up protein clumps) Chromosome 4 Atrophy of brainUncontrollable muscle spasms40+ CAG’s (build up protein clumps)Huntington's Chorea Dance (5:33)Controls thinking, emotion, movement
37Huntington’s Clumsiness Jaw clenching Loss of coordination and balance Slurred speechSwallowing and/or eating difficultyUncontrolled continual muscular contractionsWalking difficulty, stumblingHostility/irritability Inability to take pleasure in lifeLack of energyperson with Huntington's also may exhibit psychotic behavior:DelusionHalluciationsInappropriate behavior (e.g., unprovoked aggression)Paranoia
39Achondroplasia Dwarfism Average adult male height of 52 inches; average adult female height of 49 inchesDwarfismAchondroplasia: Genetics (2:20)short statureshortening of limbs,trident handsprominent forehead
41FAQCan short-statured couples become the parents of average-size children?AA=deadAa=Achondroplasiaaa=normalA aAa
42FAQCan short-statured couples become the parents of average-size children?AA=deadAa=Achondroplasiaaa=normalA aAAAaaaAaX
43Alzheimer syndromeWidespread nerve cell dysfunction and cell death in the brainDementia (memory loss)Alzheimer's Disease: Medical Update (1:39)Life with Alzheimers(3:56)
44Alzheimer Syndrome Autosomal Dominant Found on Chromosome 1, or 10, or 14, or 19, or 21APO4, is a cholesterol-carrying protein linked to development a protein that forms plaque in the brainAlzheimer's neurology (1:01)Alzheimers' Disease: Neurology
46Early or mild stage: memory loss, especially of recent events difficulty in recalling names and conversationsmisplacing objects becoming lost in familiar neighborhoodsrepeating stories and conversationsdifficulty in learning new informationpersonality changesdecreased motivation and driveeasily upset or anxious
48Marfan’s: taller, pigeon chest Marfan's Video (2:45) Spidery fingers, enlargement of aorta
49Michael Phelps Does Not Have Marfans XExtra Tall Athletes in their recruiting physical are tested for Marfans.Clarence Holloway of Louisville does have Marfan's syndrome (had open-heart surgery)Manute Bol didDied at age 47Gheorge Muresan7’7”
50Marfan Syndrome a connective tissue disorder Affects skeleton, lungs, eyes, heart and blood vessels.unusually long limbsHigh arch palateDebated if Abraham Lincoln has Marfan’s.
56“bleeder’s disease” XHXh = female carrier XHY = normal male XhXh = female hemoXHY = normal maleXhY = hemo male
57Color Blindness More common in males Sex-linked (red and Green) on inability to perceive differences between some of the colors that others can distinguish.More common in malesSex-linked (red andGreen) onX chromosomeWhat it's like being color-blind? (3:35)
58Color Blindness 3 seconds to determine number Ishihara Test for Color Blindness
59Ishihara Test for Color Blindness The individual with normal color vision will see a 5 revealed in the dot pattern. An individual with Red/Green (the most common) color blindness will see a 2 revealed in the dots.Are You color blind? (2:26)Ishihara Test for Color Blindness
60Color blindness=can’t tell certain colors Recessive on X chromosome = cXCXc = normal female (carrier)XcY = color-blind male
78Hypercholesterolemia polygenic dominant is the presence of high levels of cholesterol in the blood.lead to atherosclerosis (hardening of the arteries)additive effects of multiple genes (polygenic)yellowish patches consisting of cholesterol deposits above the eyelids.
84Triple-X Syndrome triplo-X trisomy X XXX syndrome 47,XXX aneuploidy There is usually no distinguishabledifference to the naked eyebetween women with triple Xand the rest of the female population.
85Triple-X SyndromeAlthough females with this condition may be taller than average, this chromosomal change typically causes no unusual physical features.Most females with triple X syndrome have normal sexual development and are able to conceive children.
86Nondisjunction Chromosomes to segregate unevenly during meiosis Mistakes in Meiosis
87Down’s Syndrome Trisomy 21 Extra fold over eye Sluggish muscles Mental problems
97BARR BODIES So there is not excess of X info in females When a female is born one of her X chromosomes is inactivated = a Barr Body (early in embryonic development)Used to test femaledness at OlympicsSo there is not excess of X info in females
98Calico Cat – X linkedOnly females have 3 colors (orange, black, white)Looks like “Pepper”