1.A novel mutation of the STK11 gene in a family with Peutz-Jeghers syndrome
Tao WANG ; Dunjing ZHONG ; Linhong NING ; Yong QING ; Hong GUO
Journal of Regional Anatomy and Operative Surgery 2017;26(4):248-251
Objective To detect the mutation of STK11 in a family with Peutz-Jeghers syndrome.Methods Genomic DNA was extracted from peripheral blood and harmatoma polypus of all the patients,and 9 exons and noncoding regions of STK11 were amplified by PCR.Cycle sequencing was used to analysis the DNA sequence,and western blot was used to detected the mutational STK11 protein in the harmatoma polypus.Results The 21th codon CAG in exon 5 of STK11 gene transformed to TAG in all the patients,which translated into a truncated STK11 protein.Conclusion This novel mutation is the pathogeny of PJS in this family,which could be an indicator for the diagnosis of PJS in this family.And it may lead to a higher risk of cancer in patients.
2.STAT3 participates in the injury of alveolar type Ⅱ epithelial cells during severe acute pancreatitis:an in vitro study
Dunjing ZHONG ; Hong GUO ; Jia HAO ; Xiaoyan ZHAO
Journal of Third Military Medical University 2003;0(19):-
Objective To study the role of signal transducer and activator of transcription3 (Stat3) in alveolar type Ⅱ epithelial cells (AT-Ⅱ) treated with the serum from rat model of severe acute pancreatitis. Methods AT-Ⅱ cells of primary culture were treated with serum from rat model of severe acute pancreatitis (SAP group),or SAP serum+AG490 (JAK inhibitor),while the normal cell control was set. AT-Ⅱ cells after treatment were collected to determine activation of Stat3 by EMSA,Stat3 mRNA expression by RT-PCR,and surfactant protein C (SP-C) level in AT-Ⅱ cells by flow cytometry. Results Stat3 protein and mRNA levels were enhanced in SAP group (P