Term
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Definition
| Single Gene responsible for several phenotypes |
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Term
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Definition
Southern-DNA
Northern-RNA
Western-Protein |
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Term
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Definition
Detects changes in the size of DNA fragments (10s kb) less DNA for probe = weaker signal
Restriction fragment length polymorphism(RFLP).
Subset SNPs(Single Nucleotide Polymorphism) |
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Term
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Definition
Requires some sequence information & Taq (dna polymerase)
Studying small portion of genome 100-1000 bp
detect size variation 10-100bp |
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Term
| Oligonucleotide probe ASO |
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Definition
Single mismatch results in unstable hybridization.
Tests for single base change in known sequences. ie. Sickle
Dot blot. Used for frequent mutations.
CF, B-thalassaemia. |
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Term
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Definition
Many cases are due to loss of chromosome after fertilizaiton.
PCR for y-specific sequence in gonads.
XY-cells can cause malignancies |
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Term
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Definition
Detected by FISH. 100-200kb
(south blot detects in 10kb range.
If the probe is larger then deletion, it won't discriminate
FISH: WIlliams syndrome, Digeorge. Prader-williams/Anglemann |
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Term
| Comparative Genomic Hybridization (gene chip) |
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Definition
end-labeling probes(ssDNA)=radioactive phosphate to 5'-OH
Cell from normal labeled green
Cell from patient labeled red.
Array-CGH: above limit: Duplication
Below = Deletion |
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Term
| When to use DNA sequencing |
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Definition
Autosomal dominant conditions.
Mutations are family specific. |
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Term
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Definition
Start: AUG
Stop: UAG, UGA, UAA
intron: lower case
Exon: uppercase |
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Term
Single-strand conformational polymorphism
(SSCP) |
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Definition
Mutation in gene is unknown, screen multi exons at once
Single-strand DNA forms hairpin loops.
Mutations may change structure that forms.
Detect mutations in CFTR |
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Term
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Definition
ASO- 1 bp difference, common mutations.
Southern - between related genes and 10's kbs of deletions
Fish/BAC-between chromosomal regions. Deletions of 100s to 1000kb |
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Term
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Definition
A change in DNA sequence that may or may not be polymorphic or pathogenic.
Polymorphism: rare allele exists at a frequency greater than 1% |
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Term
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Definition
~10^9 per haploid genome per generation.
5-6 new mutations per person. |
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Term
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Definition
Substitution: Nonsense, Splice Site
Deletion: Frameshift, gene deletion
Insertion: Frameshift
Splice donors at end of exons |
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Term
Incidence:
Prevalence:
Frequency: |
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Definition
Incidence (q^2): rate at which new cases occur
Prevalence: proportion of population affected
Frequency: same as incidence
allele f(q)
Carrier f(2pq) |
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Term
| Patterns of mode of inheritence |
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Definition
Recessive: Enzymes and transporters
Dominant: Structural proteins, transcription factors |
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Term
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Definition
Embryonic = Z2E2
Foetal = A2E2
LCR(locus control region, Enhancer) controls expression of different types
Adult = A2B2 or A2O2 |
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Term
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Definition
| Most are autosomal recessive, with a few rare excpetions |
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Term
| Haemophilia X-linked recessive |
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Definition
Hb A defect VIII
-mild forms are uncommon
-Severe have no residual f8 activity
-S.blot: chromosomal rearrangement (loop& cis-recombination)changes length btwn restriction sites
Hb B defect IX
-does not have as many rpts on gene so this mechanism does occur often |
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Term
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Definition
Sickle cell
single base substitution A-> T
glu-> val
Ddel cannot cut |
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Term
| Restriction Fragment Length Polymorphisms (RFLP) |
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Definition
result of SNPs
heterozygous will yield three bands on a gel
Gain of restriction site: smaller &more
Loss of restriction site: bigger &less |
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Term
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Definition
| deletion syndrome called DiGeorge or Velo-Cardio-Facial syndrome |
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Term
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Definition
for presence/absence, copy number and chromosomal location of particular DNA
painting for reciprocal translocation |
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Term
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Definition
Autosomal Dominant -heterozygous with normal G/G
R198X -> C->T thus Arg -> Ter
R200Q G->A thus Arg -> Gln
S.blot for loss of Mspl restriction site |
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Term
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Definition
NULL mutations of beta globin gene
cryptic splice site on intron 2 -part of intron gets incorporated into exon |
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