Term
| The fragile X syndrome's type of inheritance is? |
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Definition
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Term
| What is the chromosomal localization for Fragile X Syndrome? |
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Definition
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Term
| What is the NORMAL codon that is mutated in Fragile X Syndrome |
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Definition
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Term
| Where is the repeat location for fragile X syndrome? |
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Definition
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Term
| What is the parental gender bias for fragile X syndrome? |
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Definition
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Term
| What is the inheritance type for Huntington's disease? |
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Definition
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Term
| Where is the gene locus for Huntington's Disease? |
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Definition
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Term
| What is the chromosomal localization for Huntington's disease? |
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Definition
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Term
| What is the NORMAL codon that is mutated in Huntington's disease? |
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Definition
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Term
| Where is the repeat location for Huntington's disease? |
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Definition
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Term
| With whom is the parental gender bias? |
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Definition
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Term
| What is the mutation type for Huntington's disease? |
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Definition
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Term
| What is the mutation type for Fragile X Syndrome? |
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Definition
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Term
| ? ? 2 homologous genes both will not always be expressed. |
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Definition
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Term
| Genome imprinting is ? specific |
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Definition
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Term
| The more ? of a gene the greater the chance of it determining what will happen. |
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Definition
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Term
| Higher frequency of mental retardation in fragile X occurs in ? |
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Definition
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Term
What can be described as follows
majority are midlife occurring in either gender parent |
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Definition
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Term
What can be described as follows
the onset of phenotype is one of movement disorder in terms of trembling of a body part (limb hand) and goes to other body partsDeath about 15 years after diagnose a lot of uncontrollable movement and in the end they are curled up in bed totally dependent on other people central nervous system deteriorates Early on they have fits of rage |
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Definition
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Term
| What is the easiest test to do for Huntington's disease? |
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Definition
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Term
What can be described as follows?
pheno they eat excessively at early age, obesity hyperphasia, cognititve disability |
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Definition
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Term
For Prader Willi Syndrome if you had 3 of the 15 gene = trisomy they will die another mutation converts one trisomy to disomy resulting in uniparental disomy 2nd route due to nondisjunction
3rd way is due to mutations in what? |
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Definition
| imprinting in genes that govern methylation fail to methylate only 5% of the time does this occur |
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Term
| In Angelman syndrom if you have silencing of father then you can have what? |
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Definition
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Term
| You can have mutation of mother's Angelman syndrome region which accounts for ? |
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Definition
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Term
What disease can be described as follows?
is a rare genetic disorder in which seven genes (or some subset thereof) on chromosome 15 (q 11-13) are deleted or unexpressed (chromosome 15q partial deletion) on the paternal chromosome.
For the genes affected in PWS, it is the paternal copy that is usually expressed, while the maternal copy is silenced. This means that while most people have a single working copy of these genes, people with this will have no working copy |
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Definition
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Term
| PWS has the sister syndrome ? in which maternally derived genetic material is affected in the same genetic region. |
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Definition
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