Department of Laboratory Medicine, Division of Genetic Counseling Clinic, National Health Insurance Coporation Ilsan Hospital, 1232, Baeksok-1 dong, Ilsandong-gu, Goyang-si, Gyeonggi-do, 410-719, KOREA
jhyoo92@empal.com
Jong-Ha Yoo, M.D., Ph.D.
My maor interests are "hematology", "Cancer genetics", and "genetic disorder".
Abstract: Background: This study evaluated the clinical accuracy and analytical sensitivity of the NanoSign® Influenza A/B
antigen kit in detecting 2009 pandemic influenza A/H1N1 viruses. The kit is one of the most popular rapid
diagnostic tests for detecting influenza in Republic of Korea.
Results: The NanoSign® Influenza A/B kit resulted in 79.4% sensitivity and 97.2% specificity compared to RT-PCR in
the detection of the viruses from 1,023 specimens. In addition, the kit was able to detect two strains of novel
influenza viruses, Influenza A/California/12/2009(H1N1) and clinically isolated wild-type novel influenza A/H1N1,
both of which are spreading epidemically throughout the world. In addition, the correlation between NanoSign®
Influenza A/B test and conventional RT-PCR was approximately 94%, indicating a high concordance rate. Analytical
sensitivity of the kit was approximately 73 ± 3.65 ng/mL of the purified viral proteins and 1.13 ± 0.11
hemagglutination units for the cultured virus.
Conclusions: As the NanoSign® Influenza A/B kit showed relatively high sensitivity and specificity and the good
correlation with RT-PCR, it will be very useful in the early control of influenza infection and in helping physicians in
making early treatment decisions.
Abstract: BACKGROUND: Peutz-Jeghers syndrome (PJS) is an unusual autosomal dominant disorder characterized by mucocutaneous pigmentation and multiple gastrointestinal hamartomatous polyps. Patients with PJS are at an increased risk of developing multi-organ cancer, most frequently those involving the gastrointestinal tract. Germline mutation of the STK11 gene, which encodes a serine-threonine kinase, is responsible for PJS. METHODS: Using DNA samples obtained from the patient and his family members, we sequenced nine exons and flanking intron regions of the STK11 gene using polymerase chain reaction (PCR) and direct sequencing. RESULTS: Sequencing of the STK11 gene in the proband of the family revealed a novel 1-base pair deletion of guanine (G) in exon 6 (c.826delG; Gly276AlafsX11). This mutation resulted in a premature termination at codon 286, predicting a partial loss of the kinase domain and complete loss of the C-terminal domain. We did not observe this mutation in both parents of the PJS patient. Therefore, it is considered a novel de novo mutation. CONCLUSION: The results presented herein enlarge the spectrum of mutations of the STK11 gene by identifying a novel de novo mutation in a PJS patient and further support the hypothesis that STK11 mutations are disease-causing mutations for PJS with or without a positive family history.
