Site icon Holiday Recipes to Cook

“Hepatoblastoma 3p”, Victor McKusick, Mendelian Inheritance in Man, 1966. 肝母細胞瘤。(CTNNB1).

Here I present: “Hepatoblastoma 3p”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 肝母細胞瘤。(CTNNB1).

INTRODUCTION.

Chromosome #3 has two (2) different genes that have been identified in hepatoblastoma: CTNNB1 on 3p22.1  & PIK3CA on 3q26.32.  Hepatoblastoma is a malignant liver cancer occurring in infants and children and composed of tissue resembling fetal liver cells, mature liver cells, or bile duct cells. They usually present with an abdominal mass. The disease is most commonly diagnosed during a child’s first three years of life.  Alpha-fetoprotein (AFP) levels are commonly elevated, but when AFP is not elevated at diagnosis the prognosis is poor.

There is evidence hepatoblastoma is caused by a mutation in the Catenin (cadherin-associated protein) CTNNB1 gene on cytogenetic location 3p22.1 and genomic coordinates 3:41,199,505-41,240,443.  The screenshot of the CTNNB1 gene 40,939 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides CTNNB1 in the cytogenetic location 3p22.1 are listed BENEATH.

Coordinate  Symbol  Genomic Name 
3:39,467,680  MOBP Myelin-associated oligodendrocyte basic protein
3:39,808,914  MYRIP Myosin VIIA- and RAB-interacting protein
3:40,387,184  ENTPD3 Ectonucleoside triphosphate diphosphohydrolase 3
3:40,457,339  RPL14 Ribosomal protein L14
3:41,199,505  CTNNB1 Catenin (cadherin-associated protein), beta 1
3:41,246,599  ULK4 Unc51-like kinase 4
3:42,013,093  TRAK1 Trafficking protein, kinesin-binding 1
3:42,257,826  CCK Cholecystokinin
3:42,360,764  LYZL4 Lysozyme-like 4
3:42,489,299  VIPR1 Vasoactive intestinal peptide receptor 1

Exit mobile version