Flashcards in Mutation Mechanisms in Human Genetic Disease Deck (53):
In terms of simple mutations and genotype, what are the general relationships between type of mutation and mode of inheritance?
What is an example of genotype and phenotype relationship?
- Dystrophin gene.
What is the difference between Becker Muscular Dystrophy and Duchenne Muscular Dystrophy?
What are some complex mutation mechanisms? Give an example for each.
What is the function of PKD?
What is the mutation mechanism behind Polycystic kidney disease?
What is the PKD progression?
What type of de novo mutations occur in duplicons?
- Deletions, duplications, inversions.
Region-specific low copy repeat elements have been identified to flank regions susceptible to genomic disorders, what are the three distinct groups of these elements? Give examples for each group.
Give four examples of large repeat, simple duplicon genomic disorders.
Features of X-linked Ichthyosis and S232 elements.
Features of CMTA-REP & two distinct peripheral neuropathies.
What are the gene dosage effects for PMP22 gene?
Features of Severe hemophilia A and int22h elements.
Where are the repeat sequences located in Severe Hemophilia A.
Draw an example of DNA inversion of duplicons.
Features of Neurofibromatosis and germline deletions of 17q11.2.
What are common properties of complex duplicon genomic disorders?
What are four examples of complex duplicon genomic disorders?
Features of Williams Syndrome.
Features of Smith Magenis Syndrome (SMS).
Features of DiGeorge, Velocardiofacial, Cat-eye and der22 syndromes.
Features of Prada-Willi and Angelman Syndromes
(END repeats and 15q11-15q13 deletions).
What are the recombination mechanisms for duplicon-mediated copy number changes?
Features of Monosomy 1p36 Syndrome.
What are terminal deletions associated with?
Inverted duplications at the end of chromosomes.
How can cancer cells develop drug resistance?
Mechanism of chromosomal terminal deletion leading to germ-line mutation???
What is the association between the extent of deletion with observed symptoms in monosome 1p36 syndrome?
What is copy number variation often associated with?
What are the genetic contributions to autism? (Concordance rates between twins).
Monozygotic and Dizygous twins.
How did they map autism rick loci? What were the results?
What did Sebat et al, 2007 conclude?
What are the methods for detecting CNV?
Define imprinting disorders.
What is an example of imprinting disorders..
Features of Prader-Willi Syndrome and Angelman Syndrome.
What are the diagnostic methologies in PW and A syndromes?
What can both disorders result from?
Define comparative genome hybridisation.
What are the two mechanisms for germ-line aneuploidy?
What are the possible outcomes for aneuploid gametes?
Process of uniparental disomy occuring via correction?
What is an example of a monosomic conceptus disorder?
Describe methylation specific PCR?
What are the imprinted genes in PWS and AS?
Molecular defects in PWS and AS (Stats).
What are the molecular defects in AS.
What are the molecular defects in PWS.
PWS is due to the loss of..