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Disease Linkages and the Seven Daughters of Eve

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... 2 Earwax Type Eye Color G6PD Deficiency Heart Attack Resistance to HIV/AIDS Lactose ... Small deletions may remove one or a few base pairs within a gene, ... – PowerPoint PPT presentation

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Title: Disease Linkages and the Seven Daughters of Eve


1
Disease Linkages and the Seven Daughters of Eve
  • DNA and Your Health
  • Presentation by Donald N. Yates, Ph.D.

2
Mitochondrial Eve
3
Deoxyribonucleic Acid
4
Cellular Level
5
Heterozygous disease
  • Sickle cell anemia and resistance to malaria
  • Longevity and Alzheimers --?
  • Autosomal dominant only need one copy of gene
    (one parent will have full-blown disease, e.g.
    Huntingtons disease)
  • Autosomal recessive need two copies of the
    disease

6
Replication DNA copying itself
7
Types of Mutation
8
Spontaneous Mutation
9
(No Transcript)
10
Mitochondrial Eve
11
Mitosis and Meiosis
12
Review 1
  • When did mitochondrial Eve live
  • What are mitochondria
  • Why does it allow tracing of lineages?
  • Difference between mitochondrial and autosomal
    disease
  • Difference between dominant and recessive

13
Before the Dawn
  • Before even prehistory
  • Homo sapiens sapiens was not alone
  • Homo erectus
  • Neanderthals
  • Homo florensiensis
  • Evolutionary theory
  • Nicolas Wade book

14
Human Migrations in Prehistory
15
(No Transcript)
16
Indo-Europeans
17
After the Last Ice Age - Males
18
Daughters of Eve in Europe
  • Helena 48
  • Ursula 19
  • Jasmine 10
  • Tara 8
  • Katrina 6
  • Velda 5
  • Xenia 2

19
Male Haplogroups
20
Celts Key to Settlement of Europe
21
Neolithic Revolution
22
BantuExpansion
23
Barbarian Movements
24
Jewish Ethnic Divisions
  • Sephardic
  • Ashkenazi
  • Khazars
  • Mizrahim
  • Romaniote
  • Kaifeng

25
Conquests of Islam (to 750)
26
Diaspora of Sephardic Jews after 1492
27
The Great Migration
  • 1500-1789 Colonial Period
  • 1650-1790 15 million Africans
  • 1789-1870 Western European
  • 1830-1850 Indians put on Western res.
  • 1870-1924 Eastern European
  • Since 1910 7 million blacks to North
  • Since 1949 Jews to Israel
  • Hispanics in U.S., Arabs in Europe

28
Review 2
  • Human peopling of the world
  • Indo-Europeans, Celts, agriculturalists
  • Barbarians
  • The Great Migration
  • Africans
  • Native Americans

29
Jewish Diseases
  • Tay-Sachs Disease
  • Familial Mediterranean Fever
  • Blooms Syndrome
  • Gaucher Disease
  • Machado Joseph Disease
  • Breast and Ovarian Cancer
  • Anemias
  • LHON

30
Types of Testing
  • Newborn
  • Diagnostic
  • Carrier
  • Predictive, presymptomatic
  • Forensic

31
Genetic Health Risks
  • Alcohol Flush Reaction
  • Age-related Macular Degeneration
  • Bitter Taste Perception
  • Non-ABO Blood Groups
  • Breast Cancer
  • Celiac Disease
  • Colorectal Cancer
  • Crohn's Disease

32
Genetic Health Risks - 2
  • Earwax Type
  • Eye Color
  • G6PD Deficiency
  • Heart Attack
  • Resistance to HIV/AIDS
  • Lactose Intolerance
  • Lung Cancer
  • Lupus (Systemic Lupus Erythematosus)
  • Malaria Resistance (Duffy Antigen)
  • Multiple Sclerosis

33
Genetic Health Risks - 3
  • Muscle Performance
  • Norovirus Resistance
  • Obesity
  • Prostate Cancer
  • Psoriasis
  • Restless Legs Syndrome
  • Rheumatoid Arthritis
  • Sickle Cell Anemia Malaria Resistance
  • Type 1 Diabetes
  • Type 2 Diabetes
  • Venous Thromboembolism

34
Review 3
  • Types of testing, screening
  • Types of genetic diseases
  • Examples of risk factors you can screen for

35
Male and Female Lines
36
Alleles basic units of variation
37
Why siblings can be so different
38
CODIS MARKERS
39
History of DNA Fingerprinting
  • 1985 PCR
  • 1988 FBI starts DNA casework
  • 1991 First paper reporting Y-STRs
  • 1998 FBI launches CODIS database
  • 2005 OmniPop population database
  • 2006 DNA Testing introduces DNA Fingerprint Test

40
Uses of CODIS Profiles
  • Forensic cases -- matching suspect with evidence
  • Paternity testing -- identifying father
  • Historical investigations
  • Missing persons investigations
  • Mass disasters -- putting pieces back together
  • Military DNA dog tag
  • Convicted felon DNA databases

41
DNA Fingerprint Test
  • Melungeons
  • Basis is CODIS-15
  • OmniPop 360
  • ENFSI
  • All customized and personalized

Beth Hirschman
42
CODIS scores in report
43
(No Transcript)
44
Analysis and Conclusion
45
World Ancestry Map of John Doe
46
Certificate of Testing
47
Linkage Disequilibrium for Mitochondrial
Haplotypes
  • Helena is prone to developing Alzheimers
  • Jasmine is susceptible to passing all the Jewish
    diseases
  • Ursulas often have occipital strokes in old age

48
Other Linkages
  • Lactose intolerance Jews, Mediterranean
    lineages, Asians
  • Graves Disease in Chinese Han
  • Sickle cell anemia Africans and African
    Americans
  • Athletic gene long-distance runners versus
    sprinters
  • Intelligence gene

49
Ongoing Genome-Wide Linkage Research
  • Diabetes
  • Rheumatoid arthritis
  • Coronary heart disease
  • Prostate cancer

50
Review 4
  • CODIS markers
  • Alleles
  • DNA Fingerprint Test
  • OmniPop
  • ENFSI
  • Melungeons
  • Linkage disequilibrium
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