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Address correspondence to Da-Chang Chu PhD, Graduate Institute of Medical Biotechnology, School of Medical Technology, Chang Gung University, 259 Wen-Hua 1st Rd, Kwei Shan, Tao-Yuan, 333, Taiwan; tel 886 3 211 8800 ext. 5086; fax 886 3 211 8512; e-mail: dcchu{at}mail.cgu.edu.tw.
Clinical features of Peutz-Jeghers syndrome (PJS), an autosomal dominant disorder, include clusters of melanotic spots on the lips and limbs, polyposis of the gastrointestinal (GI) tract, and propensity to develop neoplasms of the GI tract, ovaries, testes, and other sites. We report twin sisters with PJS who were found to be homozygous, based on analyses of 9 DNA markers containing short tandem repeats (STR). Aberrant expression of a putative tumor suppressor gene, STK11, which encodes a serine threonine kinase, has been suggested as the etiologic factor in PJS. In both of the twin sisters with PJS, mRNA analyses by RT-PCR demonstrated a complete lack of STK 11 gene expression. These results provide direct evidence that STK11 gene expression is abnormal in PJS. Detecting abnormal expression of the STK11 gene may serve as a molecular approach to the diagnosis of PJS and may facilitate genotype-phenotype correlations in PJS patients.
Keywords: Peutz-Jeghers syndrome, STK11 gene expression, ovarian neoplasm, cervical cancer
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