Term
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Definition
-35
-increased risk of cytogenetic mutations such as Down syndrome |
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Term
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Definition
-35
-increased risk of single locus mutations such as achondroplasia, neurofibromatosis (usually dominant) |
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Term
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Definition
| Still making correct protein - just not enough to maintain full functionality |
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Term
| Oligonucleotide ligation assay (OLA) |
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Definition
-used to test for CF
-uses PCR - mutant probe is larger
-signal tells whether normal, heterozygous, or mutant homozygous - larger signal = mutant |
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Term
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Definition
AR
prevalence of 1/25 (carriers) in caucasian
mutation of CFTR gene - over 1500 mutations possible |
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Term
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Definition
| A male with a single allele at an X-linked locus |
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Term
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Definition
| Individual with 2 different mutations at a single locus |
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Term
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Definition
1/3 chance new mutation
2/3 chance inherited from mother |
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Term
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Definition
Mulitplex ligation dependent probe amplification
Compare possible carrier's DNA with control normal DNA and look for deletions/duplications of dystrophin gene |
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Term
| Nucleotide repeat expansions |
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Definition
Dynamic mutations expand as they are passed on from generation to generation
Can occur anywhere within a gene |
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Term
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Definition
CAG repeats in 1st exon of this gene can lead to Hungtington's Disease
>40 repeats |
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Term
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Definition
| > 50 CTG repeats in 3' UTR leads to myotonic dystrophy |
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Term
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Definition
| You can see earlier onset/more severe symptoms as the gene is passed through generations |
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Term
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Definition
Used to test for PWS/AS
Southern using methylation sensitive restriction endonucleases or PCR after treatment with bisulfite
>96% of Cs are methylated on maternal allele (around 15q) and barely any is methylated on paternal allele - can use this to determine maternal vs paternal alleles
-HPAII recognizes specific sequence only if not methylated = maternal doesn't cut, paternal does cut
-Bisulfite converts unmethylated Cs to Us (paternal) - then perform PCR with different primers |
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Term
| Recurrence risks for PWS/AS |
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Definition
For deletions and UPD --> very small, 1/1000
For methylation defects, chromosome rearrangements, and UBE3A mutations --> up to 50% |
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Term
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Definition
Implicated in oncogenes
Confers advantage of cell growth |
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Term
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Definition
| Does not confer growth advantage but is present in cancerous cell genome |
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Term
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Definition
Leads to new product forming
OR
upregulation/downregulation of certain genes (oncogenes/tumor suppressor genes) |
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Term
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Definition
Mutations in different genes cause the same disease
ex. BRCA1 and BRCA2 both cause breast and ovarian cancers |
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Term
| Cancer susceptibility genes |
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Definition
Usually autosomal dominant with incomplete penetrance
May appear to skip generations |
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Term
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Definition
First hit may occur in germline or may be inherited (cancer susceptibility gene) and then second hit comes as a somatic mutation later in life
Tumor suppressor genes |
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Term
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Definition
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Term
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Definition
| 1 mutation can lead to cancer |
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