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14 Cards in this Set
- Front
- Back
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What is functional cloning?
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Requires biochemical abnormality
Creates abnormal gene product Gene cloning |
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What is positional cloning?
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Location "roughly determined"
Mapping Identify candidate gene Gene cloning Cyctic fibrosis, Neurofibromatosis, DMD, PCKD, Huntington's |
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What are the three categories of mutations?
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Genome - whole chromosomes
Chromosomal - structural changes to chromosomes Gene mutations - deletion partial/complete of a gene |
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What types of gene mutations are there?
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Point mutations
Frame shift mutations Trinucleotide repeat mutations - amplification of a sequence of three nucleotides |
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What are the three (four) catergories of genetic disorders?
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Mendelian
Multifactorial Chromosomal Single gene disorders with non-classical patterns of inheritance |
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What is a mendelian disorder?
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Genomic disorder that follows classical pattern of inheritance
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What is a multifactorial disorder?
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Genetic and environmental factors play a role
Diabetes and HTN |
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What is a chromosomal disorder?
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Genomic or chromosomal mutations
Numerical or structural changes to the chromosome |
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What is the effect of a point mutation within a coding sequence?
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Conservative mutations
Non-conservative mutations Sickle cell CTC ro CAC B thalasesemia CAG to UAG (Stop codon) |
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What is the effect of a point mutation within a non-coding sequence?
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Binding of transciption factors affected (Hereditary hemolytic anaemia)
Splicing abnormalities |
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What is the effect of a deletion/insertion?
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Frameshift mutations
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What is the effect of a trinucleotide repeat mutation? Give an example.
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FMR-1 in Fragile-X 250-4000 tandem repeats of CGC
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What are examples of diseases referred to as single gene disorders with non-classical patterns of inheritance?
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triple repeat mutations
mitochondrial DNA mutations Genomic imprinting Gonadal mosaicism |
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Give an example of a protective mutation.
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CCR5 in HIV infection
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