Term
| How many barr bodies are found in a Turner's Syndrome patient? |
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Definition
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Term
| From which X-chromosome is XIST expressed? |
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Definition
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Term
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Definition
| PseudoAutosomal Region on the ends of X and Y chromosomes. There is crossing over between the PARs regions during meiosis 1. |
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Term
How are XX males and XY females produced? |
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Definition
| Unequal crossing over between the PARs regions of the X and Y chromosome. The SRY gene is transfered with the Y-PAR yielding an X with the SRY gene and a Y without the gene. |
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Term
What inheritance pattern is found in Duchenne Muscular Dystrophy? |
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Definition
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Term
| What % of DMD cases are inherited? |
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Definition
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Term
| Why is there such a high frequency of new DMD mutations? |
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Definition
| Because the DMD gene is incredible large ~ 3Mb |
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Term
What are presenting features of DMD? |
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Definition
| pseudohypertrophy of calves, poor balance, distended belly, sway-back, foot-drop, Gower's maneuvers, scoliosis |
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Term
| What protein is encoded by the DMD gene? |
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Definition
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Term
| What is allelic heterogeneity? |
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Definition
| Different mutations in the SAME GENE produce different diseases |
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Term
Why is Becker MD less severe than Duchenne MD? |
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Definition
| Duchenne MD involves deletions and frame shifts that produce a nonsense mutation and degraded protein. Becker MD produces an in-frame shift mutation, where the number of nucleotides is altered by a factor of 3. This does not result in a truncated protein, because no stop codon is introduced. It merely produces a less efficent form of dystrophin |
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Term
| What does the age of onset depend on in DMD females? |
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Definition
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Term
| What protein will be elevated in DMD patients? |
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Definition
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Term
| A woman has a son with DMD, what is the chance that she is not a carrier of the mutation? |
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Definition
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Term
| if the mother is a carrier for DMD, what is the chance that her son will have the disease? |
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Definition
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