Existence of Selective Pressure in G6PD Deficiency alleles on Various African Population Groups Throughout Time Público

Park, Briley SoYoung (Spring 2024)

Permanent URL: https://etd.library.emory.edu/concern/etds/k930bz61r?locale=pt-BR
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Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a widespread genetic disorder that affects about 400 million individuals globally. This study explores the historical prevalence of G6PD deficiency and its correlation with different selective pressures from malaria and fava bean consumption by analyzing G6PD deficiency frequency across diverse African populations and periods. Utilizing ancient DNA data, this research seeks to uncover the evolutionary forces that have influenced the distribution of G6PD deficiency. By examining the G6PD gene variants in ancient and present-day populations, the study aims to provide deeper insight into human genetic diversity and the survival advantages conferred by these mutations.

Table of Contents

Introduction - 1

G6PD and G6PD deficiency -1 Malaria and G6PD deficiency -2 Favism and G6PD deficiency -3

Hypothesis/Purpose -3

Method -3

Data Acquisition and Pre-processing -3 Extraction of G6PD regions and Data Categorization -3 Genetic Distance and Linkage Disequilibrium -4

Results -4

PCA Plot Illustrates Temporal Genetic Changes -5 Genetic Distance Between Populations -7 Linkage Disequilibrium and heatmaps -9

Conclusion -12

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