Mutation screening of LKB1 gene in familial Peutz-Jeghers syndrome patients / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 121-125, 2012.
Article
in Zh
| WPRIM
| ID: wpr-295524
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To screen for potential mutations of LKB1 gene in Chinese familial Peutz-Jeghers syndrome (PJS) patients and analyze their clinical manifestations.</p><p><b>METHODS</b>Eleven PJS families were collected and genomic DNA of peripheral blood was extracted. Typically mucosal pigmentation and hamartomatous polyps were present in all 11 probands. Mutation screening of the probands were carried out by PCR and direct sequencing. Two hundred and fifty healthy adults were enrolled as normal controls, for whom genomic DNA of peripheral blood was also extracted. PCR-denaturing high performance liquid chromatography was carried out to verify the mutation identified in the patients.</p><p><b>RESULTS</b>Nine germline mutations were identified in eight PJS patients, which included 7 point mutations, 1 deletion and 1 insertion. Among these, 4 were considered to be pathogenic, of which 2 were de novel, 4 were considered to be polymorphism, and 1 was uncertain.</p><p><b>CONCLUSION</b>LKB1 gene mutations with pathogenic effect are a common cause of familial PJS in Chinese patients. Most mutations are point mutations.</p>
Full text:
1
Database:
WPRIM
Main subject:
Peutz-Jeghers Syndrome
/
Molecular Sequence Data
/
Base Sequence
/
China
/
Protein Serine-Threonine Kinases
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Germ-Line Mutation
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Genetic Predisposition to Disease
/
Genetics
Type of study:
Diagnostic_studies
/
Screening_studies
Limits:
Adolescent
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Adult
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Female
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Humans
/
Male
Country/Region as subject:
Asia
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2012
Type:
Article