چكيده لاتين :
In this study, we evaluate PTEN mutations in Cowden Disease and
Juve nil Polypos is syndrome. PTEN mu c tlons vere detected, cancer and other
ph Ilotyp S essecloted wlth each of these mutations were characterized and loss of
wild typ PTEN ollele In h essoeio ed tumors was demonstrated.
Mo hods: Out of 9 potlent s included In this study, 8 had Juvenile polyposis and 1
hod Cowd e i "! yי drome. PTEN gene was evaluated by means of polymerase chain
reecrlon, sin I st rand con ormation po ymorph ism (SSCPI, Heteroduplex mobility
ossoy (HMA) and dir c 0 A sequencing,
Resull5: According to t e results of this research, nucleotide substitutions in PTEN
gene were found in 2 % (2/ 9) of pa tients. The somples were found to be
he te rc zyqot e for the c:.34 I T:>G an c.3 9G >A mutations. One novel mutation
34 1T>G n Iranion po tien s with Cowden syndrome was found in this study.
Conclusions: The tudy 0 these rer potlents could provide insight into PTEN driven
lumorge esi s.
