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1. Why are MeCP2 mutations always sporadic rather than hereditary? (2 marks)
The mutations of the MeCP2 gene are sporadic rather than hereditary because a female child with Rett syndrome will usually die at a very young age, however, if they also have a normal gene they may live longer but no family history has been found to be connected to RTT. The rare male who has RTT will die before or shortly after birth; therefore this disorder cannot be hereditary. Add notes from last weeks lecture
2. Contrast the genetic cause of Rett syndrome as compared to schizophrenia.
Explain your answer in general terms, address the relative involvement of genes and environment. RTT is caused by the lack of expression of MeCP2 and is sporadic. There is some evidence that schizophrenia is hereditary, and researchers have only established a few gene candidates for its cause. Another difference between RTT and schizophrenia is that RTT has an has a specific etiology, whereas schizophrenia receives a psychological diagnosis. If an individual is exposed to a mutation of the MeCP2 gene leading to RTT, they will develop this syndrome regardless of positive or negative environmental influences, on the other hand, schizophrenia appears highly influenced by environment, including stress, poor family environment and the use of marijuana. Several susceptibility genes have been indicated that may interact with environmental influences to produce schizophrenia. Add notes from last weeks lecture
3. (a) Why would Rett syndrome manifest more severely in males than in females?
• (1 mark) Rett's syndrome is X-linked, therefore, it is almost solely seen in women. A female has two X chromosomes giving females a better chance at survival because they have a second X chromosome to compensate for sex-linked mutations. When this mutation occurs on the single X chromosome of a male,

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