Ancestry and Disease-simple-version.pptx

Ancestry and Disease-simple-version.pptx - ANCESTRY AND...

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ANCESTRY AND DISEASE CCST9064 THE WORLD CHANGED BY DNA DR. WANLING YANG DEPARTMENT OF PAEDIATRICS AND ADOLESCENT MEDICINE UNIVERSITY OF HONG KONG [email protected] , WYANGLAB.ORG, MARCH 13, 2019
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SYNOPSIS Do people of different ancestry differ in certain diseases? What are the differences? Why are there differences? What can we do about the differences?
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EXAMPLES Thalassaemia and sickle cell disease
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Bone marrow produces 200 billion (2X10 11 ) new red blood cells every day Red blood cells can pass through Capillaries narrower than its own diameter
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Genome-Gene (DNA)
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hen there is not enough a or b hemoglobin
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Glu, E Sickle cell disease
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Distribution of b - Thalassaemia mutations
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Distribution of a - Thalassaemia mutations
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Variable HK_WGS_dat a Coun t (N=3 75) Percen t(%) Total carriers 45 12.0 Total a -thalassaemia mutation carriers 37 9.87 Deletion* (1)-- SEA 17 4.5 (2)- a 3.7 12 3.2 (3)- a 4.2 2 0.5 non-Deletion (1)Hb CS(HBA2:c.427T>C) 2** 0.5 (2)Hb Westmead(HBA2:c.369C>G) 3 0.8 (3)Hb Owari(HBA2:c.364G>A(or HBA1)) 1 0.3 Total b -thalassaemia mutation carriers 7 1.9 Variable VN_WGS_dat a Count Percen t(%) (N=16 1) Total carriers 24 14.91 Total a -thalassaemia mutation carriers 12 7.45 Deletion (1)-- SEA 6 3.70 (2)- a 3.7 5* 3.10 non-Deletion (1)Hb Westmead HBA2:c.369C>G 1 0.62 Total b -thalassaemia mutation carriers 11 6.83 (1)Hb E(HBB:c.79G>A) 5** 3.10 (2) CD 17 (AAG->TAG) (HBB:c.52A>T) 3 1.86 Thalassaemia mutation carrier frequency Detected from whole genome sequencing data Hong Kong Vietnam
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(1)-- SEA 17 4.5% -- SEA frequency = 0.045x0.045 =0.002, i.e. 2 of 1000 pregna hemoglobin Bart hydrops fetalis syndrome, which is also called Hb Bart syndrome or alpha thalassemia major Hemoglobin Barts hydrops fetalis syndrome, the most severe and generally fatal clinical phenotype of a-thalassemia, characterized by accumulation of interstitial fluid in the fetus
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SICKLE-CELL ANEMIA’S HETEROZYGOTE ADVANTAGE Distribution of the sickle-cell trait shown in pink and purple Historical distribution of malaria (no longer endemic in Europe) shown in green
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SELECTION ON SICKLE-CELL ALLELE aa – abnormal ß hemoglobin sickle-cell anemia very low fitness intermed. fitness high fitness election favors heterozygotes ( Aa ). oth alleles maintained in population ( a at low level). Aa – both ß hemoglobins resistant to malaria AA – normal ß hemoglobin vulnerable to malaria
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CYSTIC FIBROSIS Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections
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ADVERSE DRUG RESPONSES
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  • Spring '18
  • Mutation, Sickle-cell disease, Stevens-Johnson syndrome

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