Human Genome Project & Genetic Factors in Smoking

Human Genome Project

• Primary purpose: To sequence the euchromatic regions of the genome.
• Officially declared complete in 2003.

CHRNA5 Gene Mutation

• 35% of Europeans carry a mutation associated with nicotine dependence.

Nicotine Metabolism Genes

• CYP2A64C gene variants affect nicotine metabolism speed.

Nicotinic Acetylcholine Receptor

• CHRNA5-A3-B4 cluster contributes to severe nicotine dependence.

Hungarian Roma Population Smoking Rates

• 53% of the Hungarian Roma population are heavy smokers compared to 31% of the general population.

Early Onset Smoking Gene

• DAT (rs27072-A) gene polymorphism linked to early smoking.

FTO Gene Significance

• Influences fat mass and obesity.

Human Genome Size

• 3 billion base pairs.

Public Health Genomics Focus

• Identifying the interaction of genes and lifestyle on population health and diseases.

Prenatal Genetic Diagnosis Techniques

• Amniocentesis, CVS, cordocentesis.
• PCR, SNP arrays, microarrays, ultrasound.

Expanded Carrier Screening (ECS)

• Screens carriers for severe childhood-onset diseases.

NIPT Availability in Hungary

• Available in 2012.

Non-coding Regions Percentage

• 80% of the human genome is non-coding.

Alcohol Metabolism Gene

• ALDH2 gene associated with alcohol metabolism.

Pharmacogenomics Role

• Understanding drug response based on genetics.

Codon Definition

• A triplet of bases coding for an amino acid.

Vertebrate Genomes Project

• Aim to sequence at least one genome per vertebrate genus.

Fluorescence In Situ Hybridization (FISH)

• Uses labeled probes to locate DNA sequences.

Human Genome Project Sequencing Method

• Sanger sequencing.

PCR Error Sources

• Mispriming, contamination.

Capillary Electrophoresis in Sequencing

• Separates DNA fragments by size.

Severe Nicotine Dependence Mutation

• CHRNA5 rs1051730.

SNP Percentage

• 0.1% of the human genome are SNPs.

Human Gene Number

• ~22,000 genes.

Degenerate Genetic Code

• More than one codon encodes a single amino acid.

Nicotine Receptor Sensitivity Gene Cluster

• CHRNA5-A3-B4 associated with nicotine receptor sensitivity.

Prenatal Chromosomal Anomalies Marker

• Non-invasive prenatal testing (NIPT).

Euchromatin vs. Heterochromatin

• Euchromatin is transcriptionally active; heterochromatin is inactive.

Gene Annotation Method

• Genome browsers (e.g., UCSC).

Melanoma Susceptibility Gene

• MC1R.

Telomere DNA Type

• Repetitive DNA.

DNA Double Helix Discovery Year

Human Genome Project Goals

• Identify all 22,000 genes in human DNA and sequence 3 billion base pairs.

Comparative Genomic Hybridization (CGH) Techniques

• Fluorescent labeling of DNA samples, DNA microarrays.

Nicotine Dependence Genes

• CHRNA5, DRD4,

SNP Array Information

• Single nucleotide polymorphisms, chromosomal copy number variations.

Risk Factors for Disease

• Genetic polymorphisms, lifestyle choices, environmental exposures, family history.

CRISPR-Cas9 Gene Editing Benefits

• Correcting genetic disorders, enhancing agricultural crops, accelerating drug development.

Epigenetic Change Factors

• Dietary habits, exposure to pollutants.

Polygenic Risk Scores Use in Practice

• Predicting susceptibility to complex diseases, personalizing lifestyle interventions.

Single-Cell Sequencing Advantages

• Analyzing gene expression at the cellular level, detecting rare cell populations, determining chromosomal abnormalities.

Environmental Mutagenesis Trigger

• Ultraviolet radiation, tobacco smoke, pesticides.

GWAS Result Factors

• Population size, genetic heterogeneity, environmental considerations, study cohort selection.

Telomere and Cellular Aging

• Protect chromosomes, shorten with each cell division.

Transcriptomics Tools

• RNA-seq, microarrays.

Genetic Drift Characteristics

• Random changes in allele frequency, stronger effects in smaller populations.

Linkage Disequilibrium Studies Information

• Association between genetic variants.

Gene Pathways Commonly Deregulated in Cancer

• Cell cycle regulation, DNA repair mechanisms, chromatin remodeling.

Next Generation Sequencing (NGS) Features

• High-throughput data generation, reduced sequencing costs, single-molecule resolution.

Cytogenetic Analyses Focus

• Chromosomal translocations, aneuploidy.

Epigenetic Change Reversal Methods

• DNA methylation inhibitors, histone deacetylase inhibitors, and CRISPR gene editing.

Proteogenomics Application

• Linking gene expression to protein functions, understanding disease mechanisms, designing targeted therapies.

Gene Therapy Limitations

• Short-term effects, challenges in gene delivery, and risk of insertional mutagenesis.

Bioinformatics Molecular Markers

• Ribosomal RNA genes.

Gene-Environment Interaction Research Focus

• Cardiovascular diseases, diabetes, chronic respiratory diseases.

Ethical Issue in Public Health Genomics

• Genetic discrimination, genetic data privacy, and equity in access to genomic services.

Epigenetics Contribution to Public Health Genomics

• Understanding gene-environment interactions, identifying modifiable genetic variations, and developing targeted lifestyle interventions.

Genomic Epidemiology Study Aspects

• Representativeness of study cohorts, robust statistical methods, integration of genomic and environmental data.

This quiz explores the key concepts of the Human Genome Project and its implications on genetics and smoking behavior. Learn about gene mutations like CHRNA5 associated with nicotine dependence and the impact of genes on the health of specific populations. Test your knowledge on genetic variations and their contributions to smoking rates and public health.