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A) Burkitt’s lymphoma t(8;14)(q24;q32) can be developed due to chromosomal translocations juxtaposing the c-myc gene on chromosome 8 to one of the immunoglobulin loci. This aggressive B-cell neoplasm is characterized by c-MYC gene placed near the enhancer of the heavy chain of immunoglobulin on chromosome 14, which results in overexpression of c-MYC in B cells. This type of lymphoma makes up the majority of BL (2).
B) Alpha-thalassemia is an inherited blood disorder that is characterized by reduced production of hemoglobin. This pathology can be seen in individuals whose level of alpha-globin chain composing hemoglobin is decreased. Alpha-globin protein is expressed from four genes (HBA1 and HBA2 on each chromosome 16) that are under the control of a 5? regulatory element, 5?-HS40. Typically, alpha-thalassemia develops when the deletion of either the alpha-globin genes or the 5? regulatory element occurs (3).
C) Progeria (Hutchinson-Gilford Progeria Syndrome or “HGPS”) is characterized by extremely rapid, premature aging of newborns shortly after their birth. Individuals with HGPS have point mutations in the Lmna encoding lamin A and C, the A-type lamins – crucial structural element of the nuclear envelope. The most frequent HGPS mutation is located at codon 608 (G608G). This type of mutation forms a cryptic splice site within exon 11 deleting a proteolytic cleavage site within the expressed mutant lamin A. This leads to incomplete processing of prelamin A resulting in nuclear lamina abnormalities common for HGPS cells.