Cells 22

What was the main goal of the Human Genome Project?

To identify all human genes and understand genetic variation.

When did the Human Genome Project begin?

1990.

What is a genome?

The complete set of DNA of an organism, including all its genes.

What is genomics?

The study of genomes.

How many protein-coding genes do humans have?

About 20,000.

What percentage of the human genome codes for proteins?

Less than 2%.

What are exons?

The protein-coding regions of genes.

What are introns?

Non-coding regions within genes.

How similar are any two human genomes?

About 99.9% identical.

Why is the 0.1% difference between humans important?

It creates genetic variation that affects traits, disease risk, and evolution.

What is a SNP (Single Nucleotide Polymorphism)?

A common variation involving a single base-pair change in DNA.

How common are SNPs in the human genome?

About 1 SNP every 300 nucleotides.

What can SNP analysis be used for?

Ancestry, relatedness, disease risk, drug response, and forensic identification.

What are STRs (Short Tandem Repeats)?

Short DNA sequences repeated multiple times in tandem.

What are STRs mainly used for?

DNA profiling, paternity testing, and forensic investigations.

What are InDels?

Small insertions or deletions of DNA sequences.

Why can InDels be harmful in coding regions?

They can cause frameshift mutations.

What common genetic disease is caused by a 3-base deletion (ΔF508) in the CFTR gene?

Cystic fibrosis.

What are CNVs (Copy Number Variations)?

Large DNA segments (>500 bp) that are duplicated or deleted.

What is pharmacogenomics?

Using genetic information to predict how individuals respond to drugs.