Logo Medical Science Monitor

Call: +1.631.470.9640
Mon - Fri 10:00 am - 02:00 pm EST

Contact Us

Logo Medical Science Monitor Logo Medical Science Monitor Logo Medical Science Monitor

10 October 2016 : Clinical Research  

Genetic Screening and Analysis of LKB1 Gene in Chinese Patients with Peutz-Jeghers Syndrome

Chunyan ChenBDF, Xiaomei ZhangABDEG, Deqiang WangBD, Fangyu WangBD, Jian PanAD, Zhenkai WangBD, Chang LiuBDE, Lin WuBE, Heng LuBDF, Nan LiBD, Juan WeiABD, Hui ShiAD, Haijun WanBDF, Ming ZhuBDF, Senqing ChenBDE, Yun ZhouBDF, Xin ZhouBCD, Liu YangBCD, Jiong LiuABCEG

DOI: 10.12659/MSM.897498

Med Sci Monit 2016; 22:3628-3640


BACKGROUND: Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disease. It severely decreases patient quality of life and leads elevated cancer risk. Germline mutation of LKB1 is the leading cause of familial PJS.

MATERIAL AND METHODS: To characterize the germline mutation of LKB1 gene in Chinese familial and sporadic PJS patients, 14 PJS families, 5 sporadic PJS patients, and 250 healthy adults were collected and genomic DNAs of peripheral blood were extracted. Mutation screenings of LKB1 were performed using MLPA (multiplex ligation-dependent probe amplification), PCR, direct sequencing, and PCR-DHPLC (denaturing high-performance liquid chromatography).

RESULTS: A total of 12 kinds of germline mutations were found in 9 familial PJS patients, most of which were point mutations (7/12); 4 large deletions of LKB1 were also observed. Of the 12 mutations, 7 were pathogenic (2 were de novo), 4 were just polymorphisms, and 1 was indefinitely pathogenic. No pathogenic mutation in exons of the LKB1 gene was detected in the 5 sporadic PJS patients. The mutation detection rate for the LKB1 gene was 85.7% in our Chinese familial PJS and 63.2% in all Chinese PJS patients. Eight familial PJS patients were identified with pathogenic germline mutations in 14 unrelated families (57.1%). Further methylation detection and analysis showed promoter methylation in carcinomatous polyps.

CONCLUSIONS: LKB1 gene germline mutation with pathogenic effect is a common cause of familial PJS in Chinese patients; however, it is not the only molecular pathogen of PJS. Methylation in the LKB1 gene promoter region may cause carcinomatous change in intestinal polyps.

Keywords: Asian Continental Ancestry Group - genetics, Exons, genetic testing, Germ-Line Mutation, Methylation, Mutation, Peutz-Jeghers Syndrome - genetics, Protein-Serine-Threonine Kinases - metabolism, Quality of Life, Sequence Deletion

Add Comment 0 Comments


01 April 2024 : Editorial  

Editorial: Forty Years of Waiting for Prevention and Cure of HIV Infection – Ongoing Challenges and Hopes for Vaccine Development and Overcoming Antiretroviral Drug Resistance

Dinah V. Parums

DOI: 10.12659/MSM.944600

Med Sci Monit 2024; 30:e944600


In Press

29 Feb 2024 : Clinical Research  

Effect of Nasal Continuous Positive Airway Pressure on Retinopathy of Prematurity in Preterm Newborns: A Co...

Med Sci Monit In Press; DOI: 10.12659/MSM.943486  


04 Mar 2024 : Clinical Research  

Injury-Admission Time is an Independent Risk Factor for Deep Vein Thrombosis in Older Patients with Osteopo...

Med Sci Monit In Press; DOI: 10.12659/MSM.943587  


04 Mar 2024 : Clinical Research  

Evaluation of the Interrater Reliability of Sonographic Measurements of Muscle Thickness of 38 Piriformis M...

Med Sci Monit In Press; DOI: 10.12659/MSM.943720  


05 Apr 2024 : Clinical Research  

Comparative Analysis of Transoral Endoscopic Parathyroidectomy Vestibular Approach and Focused Open Surgery...

Med Sci Monit In Press; DOI: 10.12659/MSM.944128  

Most Viewed Current Articles

17 Jan 2024 : Review article  

Vaccination Guidelines for Pregnant Women: Addressing COVID-19 and the Omicron Variant

DOI :10.12659/MSM.942799

Med Sci Monit 2024; 30:e942799


14 Dec 2022 : Clinical Research  

Prevalence and Variability of Allergen-Specific Immunoglobulin E in Patients with Elevated Tryptase Levels

DOI :10.12659/MSM.937990

Med Sci Monit 2022; 28:e937990


16 May 2023 : Clinical Research  

Electrophysiological Testing for an Auditory Processing Disorder and Reading Performance in 54 School Stude...

DOI :10.12659/MSM.940387

Med Sci Monit 2023; 29:e940387


01 Jan 2022 : Editorial  

Editorial: Current Status of Oral Antiviral Drug Treatments for SARS-CoV-2 Infection in Non-Hospitalized Pa...

DOI :10.12659/MSM.935952

Med Sci Monit 2022; 28:e935952


Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750