Geentics and diseases

Chronic pancreatitis

• PRSS 1 - @ ch7 - hereditaory chronic pancretitis
• SPINK 1 -protein from acinar cells stop premature activation of Pancretic enzymes - 🛑 by cassava ingestion
• CFTR gene - heterozygous mutation

intestine

• Chron's disease : NOD2/CARD 15

Colon polyp

• juvinile polposis syndrome ⇐ SMAD 4 gene
• Petuz jeghers syndrome ⇐ STK-11/ LKB-1 on Ch19
• cowden syndrome ⇐ PTEN ch10
• FAP syndrome - APC gene mutation
• HNPCC - MLH1, MSH2 gene