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“Hereditary Pancreatitis”, Victor McKusick, Mendelian Inheritance in Man, 1966. icd10=K85.90

xr:d:DAFzpvUfZJg:367,j:7214050583309417848,t:23112108

Genomic coordinate 7: 142,749,472




Here I present: “Hereditary Pancreatitis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 胰臟炎。icd10=K85.90

INTRODUCTION.

Human pancreatic juice contains three (3) isoforms of trypsinogen. On the basis of their relative electrophoretic mobility, these are commonly referred to as cationic trypsinogen (PRSS1), anionic trypsinogen (PRSS2), and mesotrypsinogen (PRSS3).  Normally, cationic trypsinogen represents approximately two-thirds of total trypsinogen, while anionic trypsinogen makes up approximately one-third. Mesotrypsinogen is a minor species, accounting for less than 5% of trypsinogens or 0.5% of pancreatic juice proteins.

There is evidence that hereditary pancreatitis can be caused by mutation in the cationic trypsinogen (PRSS1) gene encoded on cytogenetic location 7q34 and genomic coordinates 7:142,749,472-142,753,072.  The screenshot of the PRSS1 gene 3,601 bp (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes besides PRSS1 in the 7q34 cytogenetic location are listed BENEATH.

 

 

 

Coordinate  Symbol  Genomic Name
7:141,790,217  TAS2R5 Taste receptor type 2, member 5
7:141,927,357  CLEC5A C-type lectin domain family 5, member A
7:141,972,631  TAS2R38 Taste receptor, type 2, member 38
7:141,986,518  MGAM Maltase-glucoamylase
7:142,749,472  PRSS1 Protease, serine, 1 (trypsin 1)
7:142,770,970  PRSS2 Protease, serine, 2 (trypsin 2)
7:142,786,213  TRBD1 T-cell receptor beta chain diversity gene 1
7:142,791,694  TRBC1 T-cell receptor beta chain constant region 1
7:142,795,705  TRBD2 T-cell receptor beta chain diversity gene 2
7:142,801,041  TRBC2 T-cell receptor beta chain constant region 2

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