Transcript Disease Linkages and the Seven Daughters of Eve

Disease Linkages and the Seven
Daughters of Eve
“DNA and Your Health”
Presentation by Donald N. Yates, Ph.D.
Mitochondrial Eve
Deoxyribonucleic Acid
Cellular Level
Heterozygous disease
Sickle cell anemia and resistance to malaria
 Longevity and Alzheimer’s --?
 Autosomal dominant – only need one copy of
gene (one parent will have full-blown
disease, e.g. Huntington’s disease)
 Autosomal recessive – need two copies of
the disease
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Replication – DNA copying itself
Types of Mutation
Spontaneous Mutation
Mitochondrial Eve
Mitosis and Meiosis
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
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Homo erectus
 Neanderthals
 Homo florensiensis
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Evolutionary theory
 Nicolas Wade book
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Human Migrations in Prehistory
Indo-Europeans
After the Last Ice Age - Males
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
Celts Key to Settlement of Europe
Neolithic Revolution
Bantu
Expansion
Barbarian Movements
Jewish Ethnic Divisions
•Sephardic
•Ashkenazi
•Khazars
•Mizrahim
•Romaniote
•Kaifeng
Conquests of Islam (to 750)
Diaspora of Sephardic Jews after
1492
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
 Bloom’s 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
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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
Genetic Health Risks - 3
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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
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
Alleles – basic units of variation
Why siblings can be so different
CODIS MARKERS
History of DNA Fingerprinting
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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
Uses of CODIS Profiles
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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
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Melungeons
Basis is CODIS-15
OmniPop 360
ENFSI
All customized and
personalized
Beth Hirschman
CODIS scores in report
Analysis and Conclusion
World Ancestry Map of John Doe
Certificate of Testing
Linkage Disequilibrium for
Mitochondrial Haplotypes
Helena is prone to developing Alzheimer’s
 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