Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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Pancreatitis Gene Panel

Dr. rer. biol. hum. Soheyla Chahrokh-Zadeh

According to the current state of knowledge, changes in the genes PRSS1 (cationic trypsinogen), SPINK1 (serine protease inhibitor Kazal type I), CFTR (cystic fibrosis transmembrane conductance regulator) and CTRC (chymotrypsin C) can cause chronic pancreatitis. However, these genes are involved in the origin and penetrance of chronic pancreatitis to different degrees. Various inheritance patterns are seen, including what is known as digenic inheritance, i.e. mutations are present in two of the above-mentioned genes simultaneously.

The incidence of chronic pancreatitis is estimated to be 3.5-10 in 100,000 within industrialized countries. Most of the cases are caused by external factors like chronic alcohol abuse, hypertriglyceridemia, autoimmunity and hypercalcemia. Besides these environmental factors, genetic factors can be significant in different types of pancreatitis, especially in chronic or recurrent pancreatitis.


Method

All coding exons and their flanking intronic sequences from the genes in the gene panel arrhythmogenic diseases are analyzed either by Sanger sequencing or by next generation sequencing (NGS).