Ch. 1 Flashcards
Genetics
The study of traits and conditions that are encoded in building block sequences of DNA
DNA
deoxyribonucleic acid
23andMe
studies SNPs (single nucleotide population) + full genome mapping
Genes
units of heredity, passed from one generation to the next + composed of DNA
Genome
complete set of genetic information
Cell
basic unit of life
exome
part of the genome that encodes protein
DNA expressed, collection of exones
Genomics
compares and analyzes the functions of genomes
bioethics
addresses issues and controversies that arise in applying medical technology and using genetic info
Genes
2% of Genomes
99.9% DNA identical genes
0.1% gene difference
DNA Components
Phosphate, Sugar, Base (ACTG)
Central Dogma
DNA (replication in nucleus)
transcription (nucleus)
RNA (single strand)
translation (cytoplasm)
protein (traits you show)
From Gene to Protein
What happens in DNA replication?
double helix is formed from old one using free DNA bases + 2 daughter cells inherit identical copies of genome during cell division
Transcription/ Gene Expression
copies DNA info into messenger RNA
Translation
uses info in RNA to assemble amino acids to proteins (phenotype genes)
Transcription factors
largest category of the human genome, enzyme that starts transcription, more transcription = more protein= more traits, located in different parts of body to specialize cell functions
Human Genome
Coding and regulatory Regions
1-2% in genome, affect protein sequence
Euchromatin
Lightly packed (not crowded), enriched in genes (of the 2% coding genome, 92% of human genome)
Heterochromatin
tightly packed, enriched in repetitive, non-coding dna (in nuclear membrane)
Nucleolus
Ribosome biogenesis (translation to RNA, need more ribosome when you need more protein for cells, Sphase: wrap DNA to chromatin)
Mutation of Cystic Fibrosis
Mutation in CFTR gene, replacement of amino acid glycine with aspartic acid at a specific site, missense mutation
What are SNP’s?
single nucleotide polymorphisms, 1% of population has a variant then there is SNP
The entire sequence of an organism’s genetic material is its
genome
A __ is a set of biochemical instructions that tell a cell how to manufacture a protein (or RNA molecule).
gene
Human DNA sequences are grouped among structures called
chromosomes
A variant form of a gene is called a(n)
allele
The term __ refers to the underlying instructions for a trait, and the term ___ refers to the visible trait.
genotype; phenotype
A ___ trait is a trait that is influenced by both genes and the environment.
complex trait
An inherited trait that is influenced by only one gene is called a___ trait.
Mendelian
What is the term that describes the DNA sequences for protein-encoding genes?
exome
You are working in a lab and you treat cells with a drug that inhibits transcription. You wait an hour after treatment and compare the levels of various molecules in cells treated with the drug versus those that weren’t treated. In the cells that were treated, you expect less/fewer:
RNA, proteins
A child develops a genetic disease that affects neither of his parents. The allele causing this disease is most likely
recessive
Do women or men live longer?
On average, women outlive men by about five years.
73.5 (M) vs. 79.3 (F)
What are the top 3 leading causes of death in the U.S.?
heart disease, cancer, COVID-19
