Sickle Cell anemia Flashcards
How many genes can give rise to alpha thalassemia?
4 alpha genes
What’s the mut in HbI?
Lys16glu
Purine synthesis is regulated by inhibition/activation @ which 2 ezs?
PRPP synthetase and Glutamine PRPP aminotransferase
What genetic analytical technique is used to detect small deletions/duplications of 1 exon, multiple exons, or the entire gene?
Multiple Probe Ligation Amplification (MLPA)
Used for DNA fingerprinting?
Minisattellites
occurs in coding and noncoding parts of DNA and hotspots for mutation and its due to DNA slippage and could affect reading frame ?
Microsatellites
UVB and UVC: thymine dimers and corrected by
NER (nucleotide exicism repair)
Repair purine loss, 8-oxoguanine
Base excision repair pathway
MUTYH
involved in 8-oxoguanine repair
Repairs replication errors, mismatched nucleotides, microsatellites, heterodimer protein complex recognize and cleave
Mismatch repair pathway
role in repair of ssDNA, base and inhibitors used in hereditary breast cancer
PARP1 -Poly ADP ribose polymerase 1-
Haploinsufficiency
50% of gene not being there
Mosaicism
two distinct genetics in germ line cells
Mitochondrial inheritance
maternal inheritence
Physical modification of DNA
DNA loss and DNA gain