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1. How much energy, in the form of ATP, is obtained from b-oxidation of 1 mol of linoleic acid?

 

2. What would be the metabolic consequences of cells not expressing LDL receptors?

 

3. Vitamin D3 is derived from cholesterol. How and in which tissues does conversion occur?


What are the alpha helixes?


You isolate a unicellular organism from the pus in a patient's infected wound site. The cell has no nucleus. What is the most likely Kingdom for the cell?


Describe the basis for Parkinson's disease


Adding the atomic weights of each atom in a molecule gives _____________.


explain the mechanism of sodium potassium pump.


5. Familial breast cancer and ovarian cancer (BC) are diagnosed in almost every 10th woman in Europe. Approximately 5-10% of breast cancer is hereditary. Mapped and identified two genes - oncosuppressor –BRCA –1 and BRCA – 2, mutations in which are the cause of familial breast cancer and ovaries. In which human chromosome are the BRCA – 1 and BRCA – 2 genes localized?

    - Complete the quest with:

·               · Online Mendelian Inheritance in Man (OMIM)

·        Human Genome Mutation Database (HGMD)


. Phenylketonuria is one of the most common autosomal recessive diseases caused by a hereditary defect in the PAH gene, which controls the synthesis of the hepatic enzyme phenylalanine hydroxylase. The incidence of diseases in Kazakhstan ranges from 1 in 6,000 to 10,000 newborns. The most common type of mutation is single nucleotide substitutions (missense, nonsense, and splice site mutations). The major mutation in PKU is R408W. Determine the location of the PAH gene and the R408W gene mutation in the human chromosome.

  - Complete the quest with:

  • Online Mendelian Inheritance in Man (OMIM)
  • Human Genome Mutation Database (HGMD)

3. Cystic fibrosis (cystic fibrosis of the pancreas) is the most common monogenic hereditary disease in the white race. The protein product of the gene, the cystic fibrosis transmembrane regulatory protein, CFTR, is a channel in the apical membranes of epithelial cells, through which chlorine ions are actively transported. According to the literature, the most major (diagnostically significant) mutations in CF patients are the following: delF508, CFTRdel21kb, 2143delT, 3737delA, 2184insA, 394delTT, W1282X, G542X, N1303K. Determine the location of the CFTR gene and the following mutations: delF508, CFTRdel21kb, 2143delT, 3737delA, 2184insA, 394delTT, W1282X, G542X, N1303K in the human chromosome.

    - Complete tasks with:

  • Online Mendelian Inheritance in Man (OMIM)
  • Human Genome Mutation Database (HGMD)




 


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