Mutation Analysis of STK11/LKB1 Gene in Patients with Peutz-Jeghers Syndrome in Taiwan: A Preliminary Report

Peutz-Jeghers症候群是一體染色體顯性遺傳疾病，臨床特徵為在嘴唇、口腔粘膜及手指、腳趾產生黑褐色，大小1-2毫米有如雀斑之色素沈著，以及在腸胃道，尤其是空腸產生大小不等的瘜肉。近年來分子生物學的研究發現STK11/LKB1基因的突變造成Peutz-Jegher症候群，STK11/LKB1基因轉譯一絲氨酸／酥氨酸活化酵素，扮演腫瘤抑制基因的角色。本篇報告一家族病例及三例散發性Peutz-Jeghers症候群病例及其基因突變的研究分析，結果只在一散發性病例發現一missense突變(R297K)。

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並列摘要

Purpose: Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by hamartomatous polyps in the gastrointestinal tract and pigmented macules of the lips, buccal mucosa, and digits. It was shown that germline mutations of the STK11/LKB1 gene are responsible for Peutz-Jeghers syndrome. The STK11/LKB1 gene is predicted to encode a serine/threonine kinase and might be a tumor-suppressor gene. We investigated the role of the STK11/LKB1 gene in patients with Peutz-Jeghers syndrome in Taiwan. Methods: Mutation analysis of genomic DNA was performed on one familial case (comprising three family members) and three sporadic cases with Peutz-Jeghers syndrome. All nine exons of the STK11/LKB1 gene and the flanking intron boundaries were amplified, followed by direct sequencing. Direct sequencing in each family and in normal controls further verified the mutations. Results: Mutations in the functional domains of the STK11/LKB1 gene were identified in one sporadic case only (4016G＞A, R297K), which was reported twice previously. In addition, we detected three polymorphisms in the STK11/LKB1 gene. Conclusions: We reported a mutation of the STK11/LKB1 gene in one sporadic case of Peutz-Jeghers syndrome. In the remaining one familial (three patients) and two sporadic Peutz-Jeghers syndrome cases, we found no apparent abnormalities of the STK11/LKB1gene, which could reflect the existence of locus heterogeneity in Peutz-Jeghers syndrome.

並列關鍵字

Peutz-Jeghers syndrome ； STK11/LKB1 gene ； mutation

國際替代計量

Mutation Analysis of STK11/LKB1 Gene in Patients with Peutz-Jeghers Syndrome in Taiwan: A Preliminary Report

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