Abstract：
BACKGROUND:Peutz-Jeghers syndrome (PJS) is an autosomal dominantly inherited disease. STK11/LKB1 gene germline mutations have been identified as responsible for PJS. In our study, we investigated the molecular basis of PJS and evaluated correlation between the STK11 mutations and the Chinese population. METHODS:We collected three pedigrees of PJS and screened the 9 exons and their flanking intronic sequences of STK11/LKB1 gene in the probands and normal individuals in the families using polymerase chain reaction (PCR) and direct sequencing. RESULTS:Sequencing of the STK11 gene in the probands of 3 families revealed two novel mutations (c180C-->G and c998-1002delGCAGC) in exon 1 and exon 8, respectively. The mutation of c180C-->G resulted in a premature termination codon. The other mutation, a deletion of five nucleotides (998-1002delGCAGC) in exon 8, predicted to generate a translational frameshift and a termination at codon 1070. CONCLUSIONS:The growing number of mutations in PJS pedigrees suggests the molecular basis of PJS. STK11 gene mutation can be detected in most patients with PJS.
journal_name
Chin Med J (Engl)journal_title
Chinese medical journalauthors
Zuo YG,Xu KJ,Su B,Ho MG,Liu YHsubject
Has Abstractpub_date
2007-07-05 00:00:00pages
1183-6issue
13eissn
0366-6999issn
2542-5641journal_volume
120pub_type
杂志文章abstract：BACKGROUND:The side effects of cyclosporine therapy include thromboembolic complications. However, the mechanisms underlying the hypercoagulable state induced by cyclosporine are not fully understood. Cyclosporine binds to red blood cells (RBCs) with a high affinity in circulation and alters the membranes of RBCs. Ther...
journal_title：Chinese medical journal
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