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HUMAN GENETICS Disorders. AUTOSOMAL RECESSIVE zAutosomes =, chromosomes #1- #22.

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Presentation on theme: "HUMAN GENETICS Disorders. AUTOSOMAL RECESSIVE zAutosomes =, chromosomes #1- #22."— Presentation transcript:


2 AUTOSOMAL RECESSIVE zAutosomes =, chromosomes #1- #22

3 Cystic Fibrosis-ff zIt causes the body to produce a thick, sticky mucus that clogs the lungs and digestive tract.

4 Cystic Fibrosis (cont.) zMost common fatal genetic disease in US today zMost common in Caucasians zCystic Fibrosis MovieCystic Fibrosis Movie

5 Cystic Fibrosis zChromosome 7 zFF = no CF zFf = carrier zff = has CF z(recessive)

6 PKU on chromosome 12 zLacks enzyme to break down the amino acid phenylalanine (found in milk) zPhenylketonuria (PKU)

7 PKU (cont.) zThe breakdown products can be harmful to developing nervous systems zLeads to mental retardation. zKate with PKU MovieKate with PKU Movie


9 zChromosome 12 zPut on low protein diet zAvoid phenylalanine

10 TAY SACHS zResults in degeneration of the nervous system. zChromosome 15 zHighest rate in Eastern European Jews

11 Tay Sachs (cont) zLack enzyme to break down fat, accumulates in brain ztt zChromosome 15 zNOVA Online | Cracking the Code of Life | Watch the Program Here #3NOVA Online | Cracking the Code of Life | Watch the Program Here

12 Tay-Sachs Symptoms Symptoms 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 eventually becomes blind, paralyzed and unaware of its surroundings. Death occurs by age 4.

13 Albinism zInability to manufacture pigments (melanin) in skin and eyes zAutosomal recessive trait zChromosome 11 z(will be in movie)


15 Sickle Cell Anemia zAutosomal dominant disease -#11 zRed blood cells collapse and clot blood vessels zFound in African- Americans

16 Sickle-Cells zNormal Red Blood Cells-like a donut zSickle-cells collapse, hard, clog vessels

17 Sickle-Cell Anemia zCodominant zSS = disease zAS = carrier (somewhat resistant to malaria) zAA =normal hemoglobin zSickle Cell Disease - What Causes Sickle Cell Disease Video - About.comSickle Cell Disease - What Causes Sickle Cell Disease Video -

18 Sickle-Cell Complications 1.pain episodes 2.strokes 3.increased infections 4.leg ulcers 5.bone damage 6.yellow eyes or jaundice 7.early gallstones 8.lung blockage 9.kidney damage and loss of body water in urine 10.painful erections in men (priapism) 11.blood blockage in the spleen or liver (sequestration) 12.eye damage 13.low red blood cell counts (anemia) 14.delayed growth

19 Huntington’s Disease zWoody Guthrie’s disease (folksinger 1960’s) zAutosomal dominant zDoes not manifest itself until age 20’s - 30’s zH=dominant disease z#4

20 Huntington’s zChromosome 4 zAtrophy of brain zUncontrollable muscle spasms zHuntington's Disease Information - HOPES - HOPES Video Player (SWF)Huntington's Disease Information - HOPES - HOPES Video Player (SWF) z(segment 4) zNew Treatment for Huntington's Disease - Health Videos - redOrbitNew Treatment for Huntington's Disease - Health Videos - redOrbit

21 Achondroplasia Autosomal Dominant chromosome 4

22 Achondroplasia zDwarfism zshort stature zDwarfism zshortening of limbs, ztrident hands zprominent forehead, zAverage adult male height of 52 inches; average adult female height of 49 inches

23 FAQ zCan short-statured couples become the parents of average- size children? zAA=dead zAa=Achondroplasia zaa=normal A a AaAa

24 FAQ zCan short-statured couples become the parents of average- size children? zAA=dead zAa=Achondroplasia zaa=normal AAAa aa A a AaAa

25 Alzheimer syndrome zWidespread nerve cell dysfunction and cell death, neurotransmitter deficiencies zDementia zHowStuffWorks Videos "Treating Huntington's Disease"HowStuffWorks Videos "Treating Huntington's Disease"

26 Alzheimer Syndrome zAutosomal Dominant zFound on Chromosome 1, or 10, or 14, or 19, or 21 zAPO4, is a cholesterol-carrying protein linked to development a protein that forms plaque in the brain

27 Brain Loss

28 Early or mild stage: zmemory loss, especially of recent events zdifficulty in recalling names and conversations zmisplacing objects zbecoming lost in familiar neighborhoods zrepeating stories and conversations zdifficulty in learning new information zpersonality changes zdecreased motivation and drive zeasily upset or anxious

29 Marfan Syndrome za connective tissue disorder, zAffects skeleton, lungs, eyes, heart and blood vessels. zunusually long limbs zaffected Abraham Lincoln.

30 Marfan Syndrome zautosomal dominant disorder z chromosome 15 z(will be in movie)

31 SEX-LINKED DISORDERS zOn X chromosome

32 Hemophilia

33 zBlood does not clot normally zSex-linked recessive zMissing AHF (clotting factor in blood) zCzar Nicholas royal family

34 Royal Pedigree-Hemophilia

35 “bleeder’s disease” zX H X h = female carrier zX h X h = female hemo zX H Y = normal male zX h Y = hemo male

36 Color Blindness zMore common in males zSex-linked (red and green on X chromosome) zBlue is on an autosome Ishihara Test for Color Blindness

37 zThe 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.

38 Color blindness=can’t tell certain colors zRecessive on X chromosome = c zX C X c = normal female (carrier) zX c Y = color-blind male

39 What numbers do you see?

40 Note: X and Y used

41 Need X and Y on Punnetts

42 Duchenne Muscular Dystrophy

43 MD zDuchenne Muscular Dystrophy zOn X m chromosome zWeakens and degenerates muscles zFound mostly in males

44 DMD zOnset ·Early childhood - about 2 to 6 years. z Symptoms · Generalized weakness of muscle zWasting affecting limb and trunk z Leg muscles first. Calves often enlarged.

45 DMD zSurvival rare beyond late twenties. zX-linked recessive (females are carriers ).

46 POLYGENIC DISORDERS zDetermination of disorder occurs on more than one chromosome

47 SPINA BIFIDA is a fault in the spinal column in which one or more vertebrae (the bones which form the backbone) fail to form properly, leaving a gap or split.

48 Spina Bifida #6, #14 and others zGap in spinal column

49 Shunts often put in the brain to drain the fluid

50 Agent Orange zChildren with Spina Bifida whose parent was in contact with Agent Orange during the Vietnam War are compensated

51 Cleft Lip/Cleft Palate zA cleft is an opening in the lip, the roof of the mouth (hard palate) or the soft tissue in the back of the mouth (soft palate). #11, #17, #22

52 Clefts Clefts occur more often among Asians and certain groups of American Indians than among whites. They occur less frequently among blacks.

53 Cleft lip/palate zAs you can imagine there are feeding problems z#11, #22, #17 – zpolygenic

54 On Y chromosome zTestes determining factor

55 Nondisjunction zChromosomes to segregate unevenly during meiosis zMistakes in MeiosisMistakes in Meiosis

56 Down’s Syndrome zTrisomy 21 zExtra fold over eye zSluggish muscles zMental problems

57 Trisomy 21 Karyotype

58 Nondisjunction

59 Turner’s Syndrome Adults with Turner syndrome are short, averaging around four feet, eight inches in height.

60 zBut girls with Turner syndrome don't start life as very short individuals - they become short over time-do not develop sexually

61 Turner’s Syndrome 45 X0

62 Kleinfelter’s 47 XXY

63 Kleinfelter’s Testes are small and fail to produce normal levels of testosterone which leads to breast growth (gynaecomastia) in about 40% of cases and to poorly developed secondary sexual characteristics.

64 Klinefelter’s zMen are sterile (no sperm).

65 NOTE: zIf you are born with no “X” chromosome- it is fatal zIf missing an autosome-it is fatal

66 Special Topics In Human Genetics

67 BARR BODIES zWhen a female is born one of her X chromosomes is inactivated = a Barr Body (early in embryonic development) zUsed to test femaledness at Olympics zSo there is not excess of X info in females

68 Calico Cat zOnly females have 3 colors (orange, black, white) zLooks like “Pepper”

69 zGENETIC DISORDERS REFERENCE SHEET: Down Syndrome (Trisomy 21) Edward's Syndrome (Trisomy 18) Patau Syndrome (Trisomy 13) Klinefelter Syndrome (47, XXY) Turner Syndrome (45 XO) Metafemale (46XXX)-taller Autosomes (#1-22) so 44 if normal

70 Angelman Syndrome zDeletion of Chromosome 15 zIf inherited from FATHER zSymptoms: Short and obese, delayed development, frequent laughing

71 Angelman Syndrome

72 Prader-Willi Syndrome zDeletion is inherited from mother’s chromosome 15 zHyperactive, chronic hunger, low muscle tone, obesity

73 Prader-Willi Syndrome –Before and after controlled eating

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