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“Acute Promyelocytic Leukemia”, Victor McKusick, Mendelian Inheritance in Man, 1966. 急性原骨髓細胞白血病。(APL).

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Here I present: “Acute Promyelocytic Leukemia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 急性原骨髓細胞白血病。(APL).

INTRODUCTION.

Acute promyelocytic leukemia (APL) is a subtype of acute myeloid leukemia (AML), a cancer of the white blood cells.  In APL, there is an abnormal accumulation of immature granulocytes called promyelocytes. 

Acute promyelocytic leukemia (APL) is associated with 2 cardinal features: a granulocytic differentiation block and reciprocal and balanced translocations that always involve rearrangement of the RARA gene. The most frequent translocation is t(15,17)(q22;q21), which fuses the RARA gene with the PML gene and represents more than 98% of APL.

There is evidence acute promyelocytic leukemia (APL) results from translocations that always involve the gene encoding retinoic acid receptor-alpha polypeptide (RARA) on cytogenetic location 17q21.2 and genomic coordinates 17:40,309,180-40,357,643. The screenshot of the RARA gene 48,464 bp (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes besides RARA in the 17q21.2 cytogenetic location are listed BENEATH.

 

 

Coordinate  Symbol  Genomic Name
17:40,140,537  MLN51 MLN51 gene
17:40,200,001  IBD22 Inflammatory bowel disease 22
17:40,219,304  WIRE WASP-interacting protein-related protein
17:40,287,879  CDC6 Cell division cycle 6
17:40,309,180  RARA Retinoic acid receptor, alpha polypeptide
17:40,360,652  GJD3 Gap junction protein, delta-3 
17:40,388,525  TOP2A Topoisomerase (DNA) II, alpha
17:40,443,450  IGFBP4 Insulin-like growth factor-binding protein-4
17:40,475,834  TNS4 Tensin 4
17:40,553,769  CCR7 Chemokine (C-C) receptor 7 

 

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