HAEMATOLOGY
-CASE STUDIES
, The following vignette applies to the next two items.
1. A 15 years old girl with a history of anemia since childhood is evaluated for genetic
abnormality after several members are found be anemic. Genitic test is determined that she
has a point mutation 𝛽globin gene, which has resulted in guanine (G) mutation with cytosine
(c) in mRNA sequence shown below.
Normal mRNA 5I---- GCCCGCGCCCUG---3I
Patient mRNA 5I-----GCCCCCGCCCUG---3I
Which of the following cellular process is most likely impaired due to this patient gene mutation?
1. Co-translation protein targeting to endoplasmic reticulum
2. InitiationTranslation
3. Peptide bond formation
4. Ribosomal translocation jury during polypeptide elongation
-CASE STUDIES
, The following vignette applies to the next two items.
1. A 15 years old girl with a history of anemia since childhood is evaluated for genetic
abnormality after several members are found be anemic. Genitic test is determined that she
has a point mutation 𝛽globin gene, which has resulted in guanine (G) mutation with cytosine
(c) in mRNA sequence shown below.
Normal mRNA 5I---- GCCCGCGCCCUG---3I
Patient mRNA 5I-----GCCCCCGCCCUG---3I
Which of the following cellular process is most likely impaired due to this patient gene mutation?
1. Co-translation protein targeting to endoplasmic reticulum
2. InitiationTranslation
3. Peptide bond formation
4. Ribosomal translocation jury during polypeptide elongation
