Disease Linkages and the Seven Daughters of Eve

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

Mitochondrial EveMitochondrial 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

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

Before the Dawn

Before even prehistory Homo sapiens sapiens was not alone

Homo erectus Neanderthals Homo florensiensis

Evolutionary theory Nicolas Wade book

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%

Male Haplogroups

Celts Key to Settlement of Europe

Neolithic Revolution

BantuExpansion

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

Review 2

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

Jewish Diseases

Tay-Sachs Disease Familial Mediterranean Fever Bloom’s Syndrome Gaucher Disease Machado Joseph Disease Breast and Ovarian Cancer Anemias LHON

Types of Testing

Newborn Diagnostic Carrier Predictive, presymptomatic Forensic

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

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

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

Review 3

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

Male and Female Lines

Alleles – basic units of variation

Why siblings can be so different

CODIS MARKERS

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

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

DNA Fingerprint Test

• 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 Linkage Disequilibrium for Mitochondrial HaplotypesMitochondrial 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

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”

Ongoing Genome-Wide Linkage Research

Diabetes Rheumatoid arthritis Coronary heart disease Prostate cancer

Review 4Review 4

CODIS markersCODIS markers AllelesAlleles DNA Fingerprint TestDNA Fingerprint Test OmniPopOmniPop ENFSIENFSI MelungeonsMelungeons Linkage disequilibriumLinkage disequilibrium