Disease Linkages and the Seven Daughters of Eve

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Disease Linkages and the Seven Daughters of Eve

• DNA and Your Health
• Presentation by Donald N. Yates, Ph.D.

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Mitochondrial Eve
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Deoxyribonucleic Acid
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Cellular Level
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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

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Replication DNA copying itself
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Types of Mutation
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Spontaneous Mutation
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Mitochondrial Eve
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Mitosis and Meiosis
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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

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Before the Dawn

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

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Human Migrations in Prehistory
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Indo-Europeans
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After the Last Ice Age - Males
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Daughters of Eve in Europe

• Helena 48
• Ursula 19
• Jasmine 10
• Tara 8
• Katrina 6
• Velda 5
• Xenia 2

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Male Haplogroups
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Celts Key to Settlement of Europe
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Neolithic Revolution
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BantuExpansion
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Barbarian Movements
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Jewish Ethnic Divisions

• Sephardic
• Ashkenazi
• Khazars
• Mizrahim
• Romaniote
• Kaifeng

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Conquests of Islam (to 750)
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Diaspora of Sephardic Jews after 1492
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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

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Review 2

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

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Jewish Diseases

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

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Types of Testing

• Newborn
• Diagnostic
• Carrier
• Predictive, presymptomatic
• Forensic

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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

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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

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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

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Review 3

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

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Male and Female Lines
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Alleles basic units of variation
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Why siblings can be so different
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CODIS MARKERS
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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

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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

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DNA Fingerprint Test

• Melungeons
• Basis is CODIS-15
• OmniPop 360
• ENFSI
• All customized and personalized

Beth Hirschman
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CODIS scores in report
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Analysis and Conclusion
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World Ancestry Map of John Doe
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Certificate of Testing
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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

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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

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Ongoing Genome-Wide Linkage Research

• Diabetes
• Rheumatoid arthritis
• Coronary heart disease
• Prostate cancer

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Review 4

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