Question 1: Based on this video, describe the symptoms of the SCA1 disease.
The SCA1 patients usually presents symptoms such as:
* Loss of balance and coordination
*They miss the movement target
*It gets hard for them to walk, so they have to use wheelchairs
*They loss the talking skill
* Problems with food, so they frequently get shock because they have lack of movement control
*Breathing problems, which is the mean symtoms that causes them death.
Question 2: Explain how to read the chart by indicating what the squares and circles represent and what is the difference between filled and hollow shapes.
Squares: mean males in the family.
Circles: defines a women in the pedigree.
The filled shapes are associated with a person with the disease SCA1.
The hollow shapes are related with a person being at risk of getting affected with SCA1.
Question 3: Discuss what conclusions can be drawn from the pedigree eg assuming that the disease is caused by the mutation of one single gene, do you think this mutation is recessive or dominant?
It can be …show more content…
In a regular person is repeats between 6 to 35 times, but in people with SCA1 it repeats 40, 50, 60 and 70. Question 5: Which organ and cell type are primarily affected by the mutation? Is this consistent with the symptoms observed in SCA1 patients?
The cell that is primary affected by the mutation are the purkinje cells and the organ is the cerebellum. It also involve the brainstem and spinal cord (Schols et al., 2004; Taroni and DiDonato, 2004).
Question 6: From the video describe the phenotype of the SCA1 mouse.
The symptoms are grown retardation, lack of balance, gain low range of weight, keep losing weight as they get older, muscle waste, abnormal gait, ataxia, atrophy of lower muscles, premature death, miss the target ,these mises have lack of balance as humans with
The SCA1 patients usually presents symptoms such as:
* Loss of balance and coordination
*They miss the movement target
*It gets hard for them to walk, so they have to use wheelchairs
*They loss the talking skill
* Problems with food, so they frequently get shock because they have lack of movement control
*Breathing problems, which is the mean symtoms that causes them death.
Question 2: Explain how to read the chart by indicating what the squares and circles represent and what is the difference between filled and hollow shapes.
Squares: mean males in the family.
Circles: defines a women in the pedigree.
The filled shapes are associated with a person with the disease SCA1.
The hollow shapes are related with a person being at risk of getting affected with SCA1.
Question 3: Discuss what conclusions can be drawn from the pedigree eg assuming that the disease is caused by the mutation of one single gene, do you think this mutation is recessive or dominant?
It can be …show more content…
In a regular person is repeats between 6 to 35 times, but in people with SCA1 it repeats 40, 50, 60 and 70. Question 5: Which organ and cell type are primarily affected by the mutation? Is this consistent with the symptoms observed in SCA1 patients?
The cell that is primary affected by the mutation are the purkinje cells and the organ is the cerebellum. It also involve the brainstem and spinal cord (Schols et al., 2004; Taroni and DiDonato, 2004).
Question 6: From the video describe the phenotype of the SCA1 mouse.
The symptoms are grown retardation, lack of balance, gain low range of weight, keep losing weight as they get older, muscle waste, abnormal gait, ataxia, atrophy of lower muscles, premature death, miss the target ,these mises have lack of balance as humans with