Mutation analysis of STK11 gene in a Chinese family with Peutz-Jeghers syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 294-297, 2014.
Article
in Chinese
| WPRIM
| ID: wpr-254463
ABSTRACT
<p><b>OBJECTIVE</b>To investigate STK11 gene mutation in a pedigree with Peutz-Jeghers syndrome (PJS).</p><p><b>METHODS</b>A pedigree of PJS was investigated. DNA was extracted from peripheral blood samples from affected and unaffected members of the pedigree and 100 unrelated healthy controls. PCR was performed to amplify all of the 9 coding exons of STK11 gene. PCR products were directly sequenced to detect mutation.</p><p><b>RESULTS</b>A missense mutation p.F354L (c.1062C>G) in exon 8 of the STK11 gene has been identified in all patients with PJS, but was not found in normal individuals from the pedigree and 100 unrelated controls.</p><p><b>CONCLUSION</b>A missense mutation p.F354L of STK11 gene probably underlies the disease in this pedigree.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Peutz-Jeghers Syndrome
/
DNA Mutational Analysis
/
Molecular Sequence Data
/
Base Sequence
/
Exons
/
Protein Serine-Threonine Kinases
/
Asian People
/
Diagnosis
/
Genetics
Type of study:
Diagnostic study
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2014
Type:
Article
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