The mutation of STK11 has been regcognized to be the major cause of Peutz-Jeghers syndrome (PJS).The aim of this study was to confirm the mutation rate of gene associated with gastrointestinal malignancies,including STK11, APC,PMS1,et al. Furtherly, the investigators analyze the association of STK11 with gut microbiota.
All patients diagnosed as PJS were enrolled and accepted second generation gene sequencing with their blood specimens. Then all patients allocated into gene mutation group and no gene mutation group according to if the cases accompany with gene mutation of STK11.Also, health persons were enrolled and a case controlled study will be carried out.All patients and health persons accepted 16s rRNA sequencing with their feces specimens.
Study Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
SUPPORTIVE_CARE
Masking
NONE
Enrollment
150
Firstly, all Peutz-Jeghers patients accept second generation gene sequencing with their blood specimen
Secondly, All patients and Health persons accepted 16s rRNA gene sequencing with their feces specimen
Changhai Hospital
Shanghai, China
RECRUITINGMutation of gene associated with Peutz-Jeghers syndrome
Mutation of gene associated with Peutz-Jeghers syndrome, including STK11, APC,PMS1,PMS2 et al.
Time frame: 2 years
Intestinal microbiota of patients with PJS
Identify the variation of intestinal microbiota of patients with PJS
Time frame: 1year
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