What is a translocation in genetics?
What is a translocation in genetics?
Listen to pronunciation. (TRANZ-loh-KAY-shun) A genetic change in which a piece of one chromosome breaks off and attaches to another chromosome. Sometimes pieces from two different chromosomes will trade places with each other.
What is the translocation of acute promyelocytic leukemia?
Acute promyelocytic leukemia is characterized by a specific t(15;17) chromosomal translocation and a particular sensitivity to retinoic acid. The translocation fuses the PML gene to the retinoic acid receptor alpha (RAR alpha) gene resulting in the production of a PML-RAR alpha fusion protein.
How is Apml different from AML?
Acute promyelocytic leukaemia (APML) is a rare sub-type of acute myeloid leukaemia (AML) and is sometimes referred to as AML M31. APML accounts for only 10% of all AML diagnoses. In APML, immature abnormal neutrophils (a type of white blood cell) known as promyelocytes accumulate in the bone marrow.
Is Apml cancer curable?
Because of advances in diagnosis and treatment of this disease, APL is now considered the most curable form of adult leukemia. Cure rates of 90 percent have been reported from centers specializing in APL treatment.
What syndromes are caused by translocation?
Translocations involving human chromosomes are of great clinical interest because they have been linked to a number of disorders, including mental retardation, infertility, and cancer.
What causes genetic translocation?
Translocations. A translocation occurs when a piece of one chromosome breaks off and attaches to another chromosome. This type of rearrangement is described as balanced if no genetic material is gained or lost in the cell. If there is a gain or loss of genetic material, the translocation is described as unbalanced .
What does PML Rara do?
It is used to help diagnose acute promyelocytic leukemia (APL) in which the PML-RARA gene sequence is present, to guide treatment, to monitor response to treatment, and to monitor for disease recurrence.
How do you get APL?
APL is caused by a chromosomal translocation (rearrangement of material) that occurs in some of the body’s cells during a person’s lifetime (a somatic mutation ). The translocation involves the fusion of two genes : the PML gene on chromosome 15 and the RARA gene on chromosome 17.
What is promyelocytic leukemia?
Share. Acute promyelocytic leukemia (APL) is an aggressive type of acute myeloid leukemia (AML). It happens when there are too many of the blood-forming cells called promyelocytes in the blood and bone marrow.
How does ATRA work in Apml?
All-Trans Retinoic Acid (ATRA) ATRA targets and eliminates the PML/RARĪ± abnormality. This treatment causes a marked decrease in the concentration of leukemic blast cells in the marrow, and a remission frequently follows. Used alone, ATRA can induce a short-term remission in at least 80 percent of patients.
How does ATRA treat APL?
All-Trans Retinoic Acid (ATRA) This drug, a vitamin A derivative, has become a standard component of induction therapy for APL. ATRA targets and eliminates the PML/RARĪ± abnormality. This treatment causes a marked decrease in the concentration of leukemic blast cells in the marrow, and a remission frequently follows.
Can you have a baby with balanced translocation?
BALANCED TRANSLOCATION AND RECURRENT MISCARRIAGE Natural conception and live birth is possible in cases of balanced translocation, but those with the condition may have more difficulty conceiving and are at a greater risk of recurrent miscarriage than those without it.
