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韓國人에서 HumFIBRA/FGA와 D21S11 遺傳座의 對立遺傳子 頻度와 遺傳的 變異의 分析
김윤신,황적준,이혜린,구태완,한길로,김성민,이혜승 大韓法醫學會 1998 대한법의학회지 Vol.22 No.1
Allele-and genotype frequencies of the two short tandem repeat (STR) loci, HumFGA and D21S11, were determined in Korean population(n=196). DNA typing was accomplished by applying fluorescence-labeled PCR products and a differently labeled sequenced allelic ladders, followed by automated analysis using ABI 377 automatic sequencer and GeneScan 2.02 software. Prior to typing, allelic ladder of each locus was constructed with a combination of all alleles occuring from the population sample. A total of 15 alleles and 48 genotypes with the heterozygosity of 0.854 for HumFGA, and 12 alleles and 33 genotypes with the heterozygosity of 0.787 for D21S11 are observed in a population of 196 genetically unrelated individuals. No deviations from Hardy-Weinberg equilibrium were observed(p=0.753 for HumFGA, p=0.262 for D21S11). The data presented here (power of discrimination and average power of exclusion) show that both STR Loci, HumFGA and D21S11, are very informative for individualization from criminal evidences, and are also useful for parentage testing.
한국인에서 다변성 D12S391 유전좌의 집단유전학적 연구
이용욱,김성민,구태완,이혜린,강일호,한길로,이혜승,황적준 大韓法醫學會 1999 대한법의학회지 Vol.23 No.1
The hypervariable short tandem repeat(STR) locus D12S391 was investigated in a Korean population. A total of 14 alleles were detected by size under denaturing conditions in 517 unrelated individuals. To confirm all of the alleles detected in a Korean population, a total of 34 fragments were sequenced. Prior to allele designation, we constructed the allelic ladders containing 11 alleles sequenced in this study. Allele 18 is the most common with a frequency of 0.281 in Koreans, and one variant allele 19.3 which have been confirmed by sequencing, was detected. The observed heterozygosity, the power of discrimination (PD), and the mean exclusion chance (MEC) for the locus D12S392 is 0.781, 0.946 and 0.652 , respectively. No deviation from Hardy-Weinberg equilibrium was observed in a Korean population (p=0.557). In the 424 meioses in 105 Korean families confirmed using other 17 STR loci, no mutation was detected in locus D12S391. The STR locus D12S391system is useful both for the analysis identification and parternity.
Identification of a novel starfish neuropeptide that acts as a muscle relaxant
Kim, Chan‐,Hee,Kim, Eun Jung,Go, Hye‐,Jin,Oh, Hye Young,Lin, Ming,Elphick, Maurice R.,Park, Nam Gyu John Wiley and Sons Inc. 2016 Journal of Neurochemistry Vol.137 No.1
<P><B>Abstract</B></P><P>Neuropeptides that act as muscle relaxants have been identified in chordates and protostomian invertebrates but little is known about the molecular identity of neuropeptides that act as muscle relaxants in deuterostomian invertebrates (e.g. echinoderms) that are ‘evolutionary intermediates’ of chordates and protostomes. Here, we have used the apical muscle of the starfish <I>Patiria pectinifera</I> to assay for myorelaxants in extracts of this species. A hexadecapeptide with the amino acid sequence Phe‐Gly‐Lys‐Gly‐Gly‐Ala‐Tyr‐Asp‐Pro‐Leu‐Ser‐Ala‐Gly‐Phe‐Thr‐Asp was identified and designated starfish myorelaxant peptide (SMP). Cloning and sequencing of a cDNA encoding the SMP precursor protein revealed that it comprises 12 copies of SMP as well as 3 peptides (7 copies in total) that are structurally related to SMP. Analysis of the expression of SMP precursor transcripts in <I>P. pectinifera</I> using qPCR revealed the highest expression in the radial nerve cords and lower expression levels in a range of neuromuscular tissues, including the apical muscle, tube feet and cardiac stomach. Consistent with these findings, SMP also caused relaxation of tube foot and cardiac stomach preparations. Furthermore, SMP caused relaxation of apical muscle preparations from another starfish species – <I>Asterias amurensis</I>. Collectively, these data indicate that SMP has a general physiological role as a muscle relaxant in starfish. Interestingly, comparison of the sequence of the SMP precursor with known neuropeptide precursors revealed that SMP belongs to a bilaterian family of neuropeptides that include molluscan pedal peptides (PP) and arthropodan orcokinins (OK). This is the first study to determine the function of a PP/OK‐type peptide in a deuterostome.</P><P> Pedal peptide/orcokinin (PP/OK)‐type peptides are a family of structurally related neuropeptides that were first identified and functionally characterised in protostomian invertebrates. Here, we report the discovery of starfish myorelaxant peptide (SMP), a novel member of the PP/OK‐type neuropeptide identified in the starfish <I>Patiria pectinifera</I> (phylum Echinodermata). SMP is the first PP/OK‐type neuropeptide to be functionally characterised in a deuterostome.</P>
Ictal sinus pause and myoclonic seizure in a child
Hye Ryun Kim,Gun-Ha Kim,So-Hee Eun,Baik-Lin Eun,Jung Hye Byeon 대한소아청소년과학회 2016 Clinical and Experimental Pediatrics (CEP) Vol.59 No.no.sup1
Ictal tachycardia and bradycardia are common arrhythmias; however, ictal sinus pause and asystole are rare. Ictal arrhythmia is mostly reported in adults with temporal lobe epilepsy. Recently, ictal arrhythmia was recognized as a major warning sign of sudden unexpected death in epilepsy. We present an interesting case of a child with ictal sinus pause and asystole. A 27-month-old girl was hospitalized due to 5 episodes of convulsions during the past 2 days. Results of routine electroencephalography (EEG) were normal, but she experienced brief generalized tonic seizure for 3 days. During video-monitored EEG and echocardiography (ECG), she showed multiple myoclonic seizures simultaneously or independently, as well as frequent sinus pauses. After treatment with valproic acid, myoclonus and generalized tonic seizures were well controlled and only 2 sinus pauses were seen on 24-hour Holter ECG monitoring. Sinus dysfunction should be recognized on EEG, and it can sometimes be treated successfully with only antiepileptic medication.
( Hye-lin Kim ),( Gi-ae Kim ),( Jae-a Park ),( Hye-rim Kang ),( Eui- Kyung Lee ),( Young-suk Lim ) 대한간학회 2018 춘·추계 학술대회 (KASL) Vol.2018 No.1
Aims: Currently, antiviral therapy for chronic hepatitis B (CHB) patients in immune tolerant (IT) phase is generally not recommended. There has been a need for studies assessing benefits of antiviral therapy in IT-phase. A recent study showed that untreated IT-phase patients had higher risk of hepatocellular carcinoma (HCC) than treated immune active (IA) phase patients. We aimed to evaluate the cost-effectiveness of starting antiviral treatment from IT-phase (IT-Tx) compared to delaying the treatment to IA-phase (IA-Tx). Methods: We designed a Markov model to compare expected costs and quality-adjusted life-years (QALYs) between IT-Tx group and IA-Tx group from healthcare system and societal perspectives. Transition probabilities and costs were obtained from a cohort of 4,965 HBeAg-positive, treatment-naive CHB patients at Asan Medical Center. Literature review was conducted for other parameters. Cost and effectiveness were discounted at a 5% annual rate, and incremental cost-effectiveness ratio (ICER) was calculated for 10-year horizon and evaluated with various HCC risks. Results: The cost-effectiveness analysis showed that IT-Tx group had ₩6,996,562 incremental costs and additional 0.294 QALY per patient compared to IA-Tx group with 10-year cumulative HCC risk of 10% (base-case). ICER was ₩23,819,529/QALY, which was borderline high of the cost-effectiveness threshold (₩20,000,000/QALY) in Korea. As HCC risk increased, IT-Tx became acceptable in cost-effectiveness. When the HCC risk increased over 11.8%, ICER went below the threshold. The analysis including the cost of lost productivity showed that IT-Tx was dominant with HCC risk greater than 4.6% (ICER<0). Conclusions: To start antiviral therapy for CHB patients in IT-phase was borderline high cost-effective from healthcare system perspective dealing with the only medical costs, however, it was a dominant strategy in view of societal perspective covering also the costs for lost productivity.
Kim, Ji-Hye,Kim, You-Kyoung,Arash, Minai-Tehrani,Hong, Seong-Ho,Lee, Jae-Ho,Kang, Bit Na,Bang, Yong-Bin,Cho, Chong-Su,Yu, Dae-Yeul,Jiang, Hu-Lin,Cho, Myung-Haing American Scientific Publishers 2012 Journal of Nanoscience and Nanotechnology Vol.12 No.7
<P>Polyethyleneimine (PEI) has been described as a highly efficient gene carrier due to its efficient proton sponge effect within endosomes. However, many studies have demonstrated that PEI is toxic and associated with a lack of cell specificity despite high transfection efficiency. In order to minimize the toxicity of PEI, we prepared chitosan-graft-spermine (CHI-g-SPE) in a previous study. CHI-g-SPE showed low toxicity and high transfection efficiency. However, this compound also had limited target cell specificity. In the present study, we synthesized galactosylated CHI-g-SPE (GCS) because this modified GCS could be delivered specifically into the liver due to hepatocyte-specific galactose receptors. The DNA-binding properties of GCS at various copolymer/DNA weight ratios were evaluated by a gel retardation assay. The GCS copolymer exhibited significant DNA-binding ability and efficiently protected DNA from nuclease attack. Using energy-filtered transmission electron microscopy (EF-TEM), we observed dense spherical, nano-sized GCS/DNA complexes with a homogenous distribution. Most importantly, GCS was associated with remarkably low cytotoxicity compared to PEI in HepG2, HeLa, and A549 cells. Moreover, GCS carriers specifically delivered the gene-of-interest into hepatocytes in vitro as well as in vivo. Our results suggest that the novel GCS described here is a safe and highly efficient carrier for hepatocyte-targeted gene delivery.</P>