molecular genetics quick flashcards

what is classical genetics

based on observable traits and the inheritance patterns they follow as they pass from parents to offspring

what is molecular genetics

focuses on the molecules of inheritance, and the mechanisms that underlie the inheritance patterns of classical genetics

what is the central dogma

DNA replicates itself, is transcribed into RNA, and RNA is translated into proteins

where does replication of DNA and transcription from DNA to mRNA occur

in the nucleus

where does the translation from RNA to proteins occur

in the ribosome within the cytoplasm

what does a silent mutation do

do not affect the protein produced

what is a nonsense mutation

an amino acid is replaced by a stop codon

what is a missense mutation

an amino acid is replaced with a different amino acid

R43Q mutations

cause childhood febrile seizures due to change in shape of the protein due to 1 amino acid change

disrupts the transport of Cl- into neurons

monogenic disorder

what is a monogenic vs polygenic disease

monogenic - single gene mutation is primary cause

polygenic - multiple gene mutations contribute to disease risk, along with environmental factors

how can we identify monogenic disorders

linkage analysis to identify DNA variations causing the disorder

how can we identify polygenic disorders

genome wide association studies to identify the co-occurrence of DNA variation of the disorder

what does genetic regulation involve

regulatory non coding DNA sequences - promoters, enhancers, repressors

regulatory DNA-coded proteins - transcription factors

regulatory epigenetic signals - DNA methylation, histone modification, non coding RNA

what is PCR

amplifies DNA & uses gel electrophoresis for visualization

heat unzips DNA, special enzyme used to build new DNA with using the og strand as a template, DNA is amplified

what is DNA sequencing

uses modified PCR with fluorescent labels to “read” DNA

DNA broken into pieces → machine reads DNA letters and puts in order → helps scientists find mutations that cause disease

what is gene expression analysis

quantitative PCR measures mRNA levels to analyze gene expression

measure amt of mRNA - > if gene active, lots of mRNA/if gene not active, less mRNA

what is CRISPR

uses guide RNA to guide Cas9 enzyme & cut DNA at a specific site

cell repairs the DNA, allowing scientists to remove or edit genes