| 篇名 |
Mutation Analysis of STK11/LKB1 Gene in Patients with Peutz-Jeghers Syndrome in Taiwan: A Preliminary Report |
| 作者 |
Wen-Chau Chen, Chih-Hsien Chi, Chia-Chang Chuang,Sheau-Chiou Chao, Ming-Jenn Chen, Ming-Che Tsai |
| 卷期/出版年月 |
38卷5期 (2005/10) |
| 頁次 |
223-229 |
| 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. |
| 關鍵詞 |
Peutz-Jeghers syndrome, STK11/LKB1 gene, mutation |
| 分類 |
Original Article |
