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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Jun;31(3):294-7. doi: 10.3760/cma.j.issn.1003-9406.2014.03.008.

[Mutation analysis of STK11 gene in a Chinese family with Peutz-Jeghers syndrome].

[Article in Chinese]

Author information

1
Department of Dermatology, Central Laboratory, the First Affiliated Hospital, Xiamen University, Xiamen, Fujian 361003, P. R. China. Email: h8883697@126.com.

Abstract

OBJECTIVE:

To investigate STK11 gene mutation in a pedigree with Peutz-Jeghers syndrome (PJS).

METHODS:

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.

RESULTS:

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.

CONCLUSION:

A missense mutation p.F354L of STK11 gene probably underlies the disease in this pedigree.

[Indexed for MEDLINE]

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