Molecular Genetics Flashcards
Which gene regulates the cell cycle
tumour suppressor genes
What are the 4 phases of the cell cycle
G1 S G2 M
What happens in the G1 phase
Growth, preparation for DNA synthesis
What happens in S phases
DNA synthesis/chromosome replication
What happens in G2 phase
Growth, preparation for mitosis
What happens in the M phase
mitosis and cytokinesis
What are the 4 phases of M phase
Prophase
Metaphase
Anaphase
Telophase
What happens in prophase
chromatin condensed to chromosome
what happens in metaphase
chromosomes align in middle of the cell
what happens in anaphase
chromosomes split and migrate to opposite poles of the cell
what happens in telophase
2 daughter nuclei form at the poles of cells
Tendency of genes to be inherited together as a result of their proximity on the same chromosome is known as
genetic linkage
programmed cell death
apoptosis
Where in the cell does transcription occur?
Nucleus
Where in the cell does translation occur?
ribosomes in the cytoplasm
What sequenxes are splice out during the processing of mRNA
introns
What sequences are expressing in mRNA
exons
MAster control gene for development of the eye
PAX6
____ mutation cause coloblomas of optic nerve
PAX2
_____ mutataion cause Waardenburg syndrome
PAX3
____ mutataions cause aniridia
PAX6
Mutations in proteins that are important in ____ cause retinitis pigmentosa
Splicing
Methylation can cause
gene inactivation
Random inactivation of the 1 os 2 x chromosomes in female resulting in lack of expression of majority of genes on they chromsome is called
Lyonization
Name 2 diseases that exhibit genomic imprinting
Prader Willi and Angelman syndrome
Prade WIlli syndrome occurs with deletion of paternally derived _____
15q11-q13
Angelman syndroe occurs with deletion of materally derived ____
15q11-q13
2 main mechanisms of DNA repair
excision repair and mismatch repair
Polymorphism of which gene related to AMD
CFH gene
Polymorphism of which gene related to pseudoexfoliation syndrome
LOXL1
Inheritance pattern of leber hereditary optic neuropathy
mitochondiral
