Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 29
Filter
1.
Animal ; 17(4): 100728, 2023 Apr.
Article in English | MEDLINE | ID: mdl-36870258

ABSTRACT

"Genome-based precision feeding" is a concept that involves the application of customised diets to different genetic groups of cattle. We investigated the effects of the genomic estimated breeding value (gEBV) and dietary energy to protein ratio (DEP) on growth performance, carcass traits, and lipogenic gene expression in Hanwoo (Korean cattle) steers. Forty-four Hanwoo steers (BW = 636 kg, age = 26.9 months) were genotyped using the Illumina Bovine 50 K BeadChip. The gEBV was calculated using genomic best linear unbiased prediction. Animals were separated into high gEBV of marbling score or low-gMS groups based on the upper and lower 50% groupings of the reference population, respectively. Animals were assigned to one of four groups in a 2 × 2 factorial arrangement: high gMS/high DEP (0.084 MJ/g), high gMS/low DEP (0.079 MJ/g), low gMS/high DEP, and low gMS/low DEP. Steers were fed concentrate with a high or low DEP for 31 weeks. The BW tended to be higher (0.05 < P < 0.1) in the high-gMS groups compared to the low-gMS groups at 0, 4, 8, 12, and 20 weeks. The average daily gain (ADG) tended to be lower (P = 0.08) in the high-gMS group than in the low-gMS group. Final BW and measured carcass weight (CW) were positively correlated with the gEBV of carcass weight (gCW). The DEP did not affect ADG. Neither the gMS nor the DEP affected the MS and beef quality grade. The intramuscular fat (IMF) content in the longissimus thoracis (LT) tended to be higher (P = 0.08) in the high-gMS groups than in the low-gMS groups. The mRNA levels of lipogenic acetyl-CoA carboxylase and fatty acid binding protein 4 genes in the LT were higher (P < 0.05) in the high-gMS group than in the low-gMS group. Overall, the IMF content tended to be affected by the gMS, and the genetic potential (i.e., gMS) was associated with the functional activity of lipogenic gene expression. The gCW was associated with the measured BW and CW. The results demonstrated that the gMS and the gCW may be used as early prediction indexes for meat quality and growth potential of beef cattle.


Subject(s)
Genome , Genomics , Cattle/genetics , Animals , Genomics/methods , Phenotype , Genotype , Meat/analysis , Gene Expression , Animal Feed/analysis , Diet/veterinary , Body Composition/genetics
2.
AJNR Am J Neuroradiol ; 39(8): 1453-1459, 2018 08.
Article in English | MEDLINE | ID: mdl-30002052

ABSTRACT

BACKGROUND AND PURPOSE: Contrast-enhanced 3D fast spin-echo T1 black-blood imaging selectively suppresses the signal of blood flow and could provide a higher contrast-to-noise ratio compared with contrast-enhanced 3D ultrafast gradient recalled echo (contrast-enhanced gradient recalled echo) and 2D spin-echo T1WI (contrast-enhanced spin-echo). The purpose of our study was to evaluate whether black-blood imaging can improve the diagnostic accuracy for leptomeningeal carcinomatosis compared with contrast-enhanced gradient recalled-echo and contrast-enhanced spin-echo and, furthermore, to determine whether the grade of leptomeningeal carcinomatosis evaluated on black-blood imaging is a significant predictor of progression-free survival. MATERIALS AND METHODS: Leptomeningeal carcinomatosis (n = 78) and healthy (n = 31) groups were enrolled. Contrast-enhanced gradient recalled-echo, contrast-enhanced spin-echo, and black-blood imaging were separately reviewed, and a diagnostic rating (positive, indeterminate, or negative) and grading of leptomeningeal carcinomatosis were assigned. The diagnostic accuracies of the 3 imaging sequences were compared in terms of leptomeningeal carcinomatosis detection. The Kaplan-Meier and the Cox proportional hazards model analyses were performed to determine the relationship between the leptomeningeal carcinomatosis grade evaluated on black-blood imaging and progression-free survival. RESULTS: Black-blood imaging showed a significantly higher sensitivity (97.43%) than contrast-enhanced gradient recalled-echo (64.1%) and contrast-enhanced spin-echo (66.67%) (P < .05). In terms of specificities, we did not find any significant differences among contrast-enhanced gradient recalled-echo (90.32%), contrast-enhanced spin-echo (90.32%), and black-blood imaging (96.77%) (P > .05). A Cox proportional hazards model identified the time to metastasis, Karnofsky Performance Scale status, and a combination of the leptomeningeal carcinomatosis grade with a linear pattern as independent predictors of progression-free survival (P < .05). CONCLUSIONS: Black-blood imaging can improve the diagnostic accuracy and predict progression-free survival in patients with leptomeningeal carcinomatosis.


Subject(s)
Imaging, Three-Dimensional/methods , Magnetic Resonance Imaging/methods , Meningeal Carcinomatosis/diagnostic imaging , Neuroimaging/methods , Adult , Aged , Contrast Media , Female , Humans , Image Interpretation, Computer-Assisted/methods , Male , Meningeal Carcinomatosis/mortality , Meningeal Carcinomatosis/pathology , Middle Aged , Prognosis , Progression-Free Survival , Retrospective Studies , Sensitivity and Specificity
3.
Sci Rep ; 7(1): 4495, 2017 07 03.
Article in English | MEDLINE | ID: mdl-28674410

ABSTRACT

Management of curable sexually-transmitted infections (STI) such as Chlamydia can be revolutionized by highly sensitive nucleic acid testing that is deployable at the point-of-care (POC). Here we report the development of a mobile nucleic acid amplification testing (mobiNAAT) platform utilizing a mobile phone and droplet magnetofluidics to deliver NAAT in a portable and accessible format. By using magnetic particles as a mobile substrate for nucleic acid capture and transport, fluid handling is reduced to particle translocation on a simple magnetofluidic cartridge assembled with reagents for nucleic acid purification and amplification. A mobile phone user interface operating in tandem with a portable Bluetooth-enabled cartridge-processing unit facilitates process integration. We tested 30 potentially Chlamydia trachomatis (CT)-infected patients in a hospital emergency department and confirmed that mobiNAAT showed 100% concordance with laboratory-based NAAT. Concurrent evaluation by a nontechnical study coordinator who received brief training via an embedded mobile app module demonstrated ease of use and reproducibility of the platform. This work demonstrates the potential of mobile nucleic acid testing in bridging the diagnostic gap between centralized laboratories and hospital emergency departments.


Subject(s)
Chlamydia Infections/diagnosis , Chlamydia Infections/microbiology , Chlamydia trachomatis/genetics , Nucleic Acid Amplification Techniques , Emergency Service, Hospital , Female , Humans , Male , Point-of-Care Systems , Sensitivity and Specificity , Workflow
4.
Clin Otolaryngol ; 42(3): 661-667, 2017 Jun.
Article in English | MEDLINE | ID: mdl-27863036

ABSTRACT

OBJECTIVES: The purpose of this study was to identify delayed auditory maturation and the fate of premature infants who failed the newborn hearing screening (NHS) in neonatal intensive care unit. MATERIALS AND METHODS: A total of 1375 neonates underwent NHS using the transient evoked otoacoustic emission (TEOAE) in a tertiary hospital between 2007 and 2010 according to the Joint Committee on Infant Hearing guidelines. In addition, a structured telephone survey was given to caregivers of infants who were lost to follow-up NHS. Auditory steady-state response (ASSR) threshold and the threshold change in diagnostic test failures were analysed. RESULT: Among the 1375 NICU babies, 344 (25.0%) babies, 111 (9.7%) babies and 64 (4.6%) babies failed to pass the first TEOAE, second TEOAE and diagnostic ASSR, respectively. However, at the age of about 5 years, 12 (0.9%) infants showed permanent hearing loss (PHL). The ASSR threshold improved from 69.0 ± 19.7 dB to 52.9 ± 21.6 dB in <4 months (P < 0.001). Premature infants of <29 weeks of gestational age at birth showed higher referral (P = 0.003) rate at the first OAE test compared to the others, and the difference continued until the last follow-up. The odds ratio for the initial ASSR threshold >67.5 dB for PHL was 9.00 (95% confidence interval, 1.7-46.7). CONCLUSION: Most of first TEOAE screening failures (91.3%) showed normal hearing and speech development. Hearing levels in premature infants can improve over time, particularly in neonates with initial ASSR threshold <67.5 dB.


Subject(s)
Auditory Threshold/physiology , Evoked Potentials, Auditory, Brain Stem/physiology , Hearing/physiology , Infant, Premature, Diseases/diagnosis , Infant, Premature , Neonatal Screening/methods , Otoacoustic Emissions, Spontaneous/physiology , Deafness/diagnosis , Deafness/epidemiology , Deafness/physiopathology , Female , Gestational Age , Hearing Tests , Humans , Incidence , Infant, Newborn , Infant, Premature, Diseases/epidemiology , Infant, Premature, Diseases/physiopathology , Male , Republic of Korea/epidemiology , Retrospective Studies
5.
Vox Sang ; 111(4): 441-444, 2016 Nov.
Article in English | MEDLINE | ID: mdl-27538125

ABSTRACT

A novel A subgroup allele (c.538C>T p.Arg180Cys) showing weak A phenotype was found in a 30-year-old Korean woman with ABO discrepancy. Using 3D structural analysis, protein stability prediction and flow cytometric analysis of ABO antigen expression on HeLa cells transfected with plasmids containing the p.Arg180Cys mutant, we found that the Arg180 residue in the loop region of the A glycosyltransferases (GTA) structure plays significant role in stabilizing its closed conformation, which is required for substrate binding and catalysis study.


Subject(s)
N-Acetylgalactosaminyltransferases/genetics , ABO Blood-Group System/genetics , Adult , Enzyme Stability , Female , Genetic Association Studies , HeLa Cells , Humans , Mutation, Missense , Phenotype , Sequence Analysis, DNA
6.
J Hand Surg Eur Vol ; 41(2): 143-7, 2016 Feb.
Article in English | MEDLINE | ID: mdl-26353946

ABSTRACT

UNLABELLED: The purpose of this randomized controlled trial was to compare outcomes of limited open and short wrist transverse techniques in patients with carpal tunnel syndrome. In a single centre randomized controlled trial, 84 patients with idiopathic carpal tunnel syndrome were randomized before surgery to limited open or short wrist transverse open carpal tunnel release. The patients were evaluated at 6 weeks, 3 months, 6 months, and 1 and 2 years after surgery. At every follow-up, the Brigham and Women's Carpal Tunnel Questionnaire scores, scar discomfort, and subjective patient satisfaction were evaluated. Two years after surgery, five patients were lost to follow-up. The groups had similar Brigham and Women's Carpal Tunnel Questionnaire Symptom Severity and Functional Status scores and subjective satisfaction scores. The incidence of scar discomfort was not significantly different between the two groups on serial postoperative follow-up. Short wrist transverse open release surgery showed similar early postoperative symptoms and subjective and functional outcomes to limited open release. LEVEL OF EVIDENCE: II.


Subject(s)
Carpal Tunnel Syndrome/surgery , Adult , Aged , Disability Evaluation , Female , Humans , Male , Middle Aged , Pain Measurement , Patient Satisfaction , Recovery of Function , Surveys and Questionnaires , Treatment Outcome
7.
Clin Otolaryngol ; 41(2): 154-9, 2016 Apr.
Article in English | MEDLINE | ID: mdl-26118457

ABSTRACT

OBJECTIVE: We evaluated the accuracy, positive predictive value (PPV), negative predictive value (NPV), specificity and sensitivity of eight anatomic landmarks to differentiate parotid deep lobe tumours from superficial lobe tumours: the lateral margin of the retromandibular vein (RMV), a straight line from the facial nerve trunk (FN trunk) to the mandibular ramus (FN line), a straight line from the FN trunk to the RMV (tRMV), a straight line from the FN trunk to the lateral margin of the masseter (tMasseter), a straight line from the ipsilateral vertebral posterior end to the RMV (U-line), an arc with a radius of 8.5 mm centred on the mandibular ramus (Conn's arc), a straight line from the lateral surface of the masseter muscle to the lateral margin of the RMV (rMasseter) and an angle from the FN line, tumour and the lateral margin of the masseter muscle (FTM angle). METHODS: A total of 181 patients with a parotid gland tumour who underwent parotidectomy at a tertiary hospital were identified retrospectively from May 2005 to May 2013. Pre-operative computed tomography and intraoperative findings were compared to evaluate each landmark. RESULTS: rMasseter (accuracy: 85.5%, PPV: 90.0%, NPV: 85.12%, specificity: 98.1%, sensitivity: 22.2%) and tMasseter (accuracy: 86.3%, PPV: 80.0%, NPV: 87.1%, specificity: 97.1%, sensitivity: 44.4%) showed superior results as diagnostic criteria. CONCLUSION: rMasseter and tMasseter were useful as anatomic landmarks to differentiate a parotid deep lobe tumour from a superficial lobe tumour.


Subject(s)
Anatomic Landmarks , Parotid Gland/anatomy & histology , Parotid Neoplasms/surgery , Female , Humans , Male , Parotid Gland/diagnostic imaging , Parotid Gland/surgery , Parotid Neoplasms/diagnostic imaging , Parotid Neoplasms/pathology , Predictive Value of Tests , Retrospective Studies , Sensitivity and Specificity , Tomography, X-Ray Computed
8.
Transfus Med ; 25(5): 333-6, 2015 Oct.
Article in English | MEDLINE | ID: mdl-26197879

ABSTRACT

BACKGROUND: Cis-AB, a rare ABO variant, is the result of a mutated ABO gene that produces a glycosyltransferase enzyme with dual A and B glycosyltransferase activity. It may lead to ABO discrepancies and a delay in establishing the blood group. To date, there have been no reports of a de novo mutation leading to a cis-AB allele. OBJECTIVES AND METHODS: Sequencing of the ABO gene using blood and hair follicle cells from the proposita were performed along with blood from her parents. To establish maternity and paternity, short tandem repeat (STR) analysis was also performed. The A and B enzyme activities of the novel enzyme were measured in an in vitro expression study. RESULTS: A novel cis-AB allele arising from nucleotide substitution c.796A>G (p.M266V) in the B glycosyltransferase gene were discovered in the blood and hair follicle cells from the proposita, which was absent from her parents. In all 15 autosomal STR loci analysed, the probability of maternity and paternity were 0.999999 and 0.999989, respectively. The novel enzyme created 33.1% and 60.2% of A and B antigen compared to wild type A and B glycosyltransferases. CONCLUSION: A novel mechanism leading to a cis-AB allele was discovered.


Subject(s)
ABO Blood-Group System/genetics , Glycosyltransferases/genetics , Mutation , Adult , Alleles , Female , Humans
9.
Cryo Letters ; 35(5): 377-84, 2014.
Article in English | MEDLINE | ID: mdl-25397952

ABSTRACT

BACKGROUND: A comparison of different cryopreservation techniques should be based on the characteristics of both the methodology and the material in question using an optimized procedure. OBJECTIVE: This study aimed at developing an encapsulation-vitrification procedure for hairy roots of Rubia akane using alternative loading and vitrification solutions, based on the existing optimized droplet-vitrification procedure. MATERIALS AND METHODS: Encapsulated roots were first precultured in liquid medium with 10% sucrose for 3 days, then with 17.5 % sucrose for 1 day, after which they were osmoprotected with solution C6-40 % (20 % glycerol + 20 % sucrose) for 50 min, cryoprotected with solution A3-90 % (37.5 % glycerol + 15 % DMSO + 15 % EG + 22.5 % sucrose, w/v) on ice for 40 min, cooled and warmed in 2 ml cryovials, and unloaded in 35% sucrose solution for 60 min. RESULTS: Through the application of this procedure to aged-clustered roots, up to 97.5 % post-cryopreservation regeneration was observed. In our previous study, droplet-vitrification of hairy roots of R. akane resulted in 83.8 % post-rewarming regeneration following preculture with 10 % sucrose for 2 days and 17.5 % sucrose for 4-5 h, and osmoprotection with solution C4-35 % (17.5 % glycerol + 17.5 % sucrose) for 30 min, and cryoprotection with solution A3-70 % (29.2 % glycerol + 11.7 % DMSO + 11.7% EG + 17.4% sucrose, w/v) on ice for 20 min. In the present study, higher post-cryopreservation regeneration was observed by using a higher concentration of vitrification solution (A3-70 % → A3-90 %, B5-80 % → B1-100 %) and/or a longer cryoprotection duration (A3-70 % at room temperature (RT) for 8 min → 15-30 min, on ice for 20 min → 40-80 min; B5-80 % for 15 min → 30-60 min). CONCLUSION: Even though encapsulation provided some degree of protection from the cytotoxicity of vitrification solutions to cytotoxicity-sensitive R. akane hairy roots, an overall higher post-cryopreservation regrowth was obtained using the droplet-vitrification procedure under optimized conditions. This result implies that this sensitive material was not sufficiently cryoprotected, and thus, rapid cooling and warming using foil strips was more efficient than cryopreservation of encapsulated samples.


Subject(s)
Cryopreservation/methods , Cryoprotective Agents/metabolism , Plant Roots/physiology , Rubia/physiology , Vitrification , Osmotic Pressure/drug effects , Plant Roots/drug effects , Plant Roots/growth & development , Rubia/drug effects , Rubia/growth & development
10.
Infection ; 42(4): 655-60, 2014 Aug.
Article in English | MEDLINE | ID: mdl-24595493

ABSTRACT

PURPOSE: To investigate immunity-related guanosine triphosphatase family M (IRGM) genetic variants associated with susceptibility to tuberculosis (TB) in a Korean population. METHODS: We conducted a prospective case-control study including 193 patients with active TB in Severance Hospital and 230 age- and sex-matched unrelated controls registered in Yonsei Cardiovascular Genome Center. Based on associations with other chronic inflammatory conditions, we analyzed the allele and genotype frequencies of rs72553867, rs10065172, and rs12654043 among patients with TB and healthy controls. RESULTS: The T allele of rs10065172 was significantly associated with protection against developing TB based on allele frequency [P = 0.042; odds ratio (OR) 0.75] and genotype distribution in the codominant model (P = 0.036; OR 0.73). CONCLUSIONS: This is the first study to identify a significant association between the IRGM single-nucleotide polymorphism (SNP) rs10065172 and susceptibility to active TB disease in an Asian population. The results suggest that IRGM genetic variants could be associated with susceptibility to active TB disease in the Korean population.


Subject(s)
GTP-Binding Proteins/genetics , Genetic Predisposition to Disease , Tuberculosis/epidemiology , Tuberculosis/genetics , Adult , Aged , Case-Control Studies , Female , Gene Frequency , Genotype , Humans , Male , Middle Aged , Polymorphism, Single Nucleotide , Prospective Studies , Republic of Korea/epidemiology , Tuberculosis/immunology , Young Adult
11.
Cryo Letters ; 33(6): 506-17, 2012.
Article in English | MEDLINE | ID: mdl-23250410

ABSTRACT

A systematic approach using a set of 13 treatments was applied to develop a droplet-vitrification protocol for Rubia akane hairy roots, based on their responses to preculture, loading, dehydration and cooling/rewarming steps. The roots were very sensitive to osmotic stress induced by both preculture in liquid sucrose-enriched medium (up to 0.5 M sucrose) and by dehydration with highly concentrated vitrification solutions (VSs). Loading was necessary before dehydration of explants with VS, and the composition of the loading solution (LS) significantly affected their post-cryopreservation regeneration. Due to high sensitivity of roots to both chemical cytotoxicity and osmotic stress produced by VSs, cryoprotection with alternative VSs, i.e. B5-80 percent (40 percent glycerol + 40 percent sucrose, w/v) at room temperature for 15 min or with A3-70 percent (29.2 percent glycerol + 11.7 percent DMSO + 11.7 percent EG + 17.4 percent sucrose, w/v) at 0 degree C for 20 min ensured the highest post-cryopreservation regeneration. However, when using these solutions, endothermic peaks (enthalpies) with -2.9 and -5.8 J per gram fresh weight, respectively, were recorded by differential scanning calorimetry (DSC) during the rewarming phase. Droplet-vitrification using foil strips showed higher post-cryopreservation regeneration (86 percent) compared with vitrification in cryovials (59 percent), possibly due to the higher cooling and rewarming rates achieved with droplet-vitrification. The developed protocol was applied to hairy roots of five other species with minor modifications in explant type, the duration of the last subculture before explant excision, and the dehydration duration with VS B5-80 percent.


Subject(s)
Cryopreservation/methods , Cryoprotective Agents/metabolism , Plant Roots/physiology , Rubia/physiology , Vitrification , Calorimetry, Differential Scanning , Dimethyl Sulfoxide/metabolism , Glycerol/metabolism , Osmotic Pressure , Sucrose/metabolism
12.
Cryo Letters ; 33(5): 402-10, 2012.
Article in English | MEDLINE | ID: mdl-23224373

ABSTRACT

A cryopreservation protocol has been developed for embryogenic callus cultures of castor aralia (Kalopanax septemlobus), a deciduous tree which is widely used in oriental medicine and in landscape design. Three preculture treatments, four loading and six vitrification solutions were tested in a vitrification procedure. Preculture of embryogenic callus (EC) with high sucrose concentrations (up to 0.7 M) showed no effect on regrowth after cryopreservation. Loading for 20 min at ambient temperature improved regrowth of cryopreserved EC by 70-75 percent compared with non-loaded samples, regardless of the composition of the loading solution. Among vitrification solutions, the highest regrowth of 95-100 percent after cryopreservation was obtained after incubation of EC in a vitrification solution A3-80 percent comprising (w/v) 33.3 percent glycerol + 13.3 percent DMSO + 13.3 percent EG + 20.1 percent sucrose for 40 min at 0°C. Profiling of crystallization and recrystallization events using differential scanning calorimetry (DSC) confirmed that freezing injury was minimized in samples after loading and cryoprotection with this vitrification solution. Unlike many other papers, the droplet-vitrification protocol did not produce higher post-cryopreservation regrowth of Kalopanax EC, compared with the vitrification procedure. When samples are sufficiently cryoprotected during VS treatment, vitrification using cryovials may be preferred, since droplet-vitrification is more complex and requires skilled personnel. Cryopreserved callus grew rapidly and produced numerous somatic embryos, which developed similarly to embryos obtained from non-cryopreserved samples.


Subject(s)
Cryopreservation/methods , Kalopanax/embryology , Vitrification , Calorimetry, Differential Scanning , Cryoprotective Agents/chemistry , Crystallization , Dimethyl Sulfoxide/chemistry , Glycerol/chemistry , Kalopanax/growth & development , Sucrose/chemistry
13.
Cryo Letters ; 33(1): 45-57, 2012.
Article in English | MEDLINE | ID: mdl-22434122

ABSTRACT

This paper reviews a 10-year experience in establishing a cryopreserved Allium germplasm collection at the genebank of the National Agrobiodiversity Center, Republic of Korea. A systematic approach to Allium cryopreservation included: 1. revealing the most critical factors that affected regeneration after cryostorage; 2. understanding the mechanisms of cryoprotection by analyzing the thermal behavior of explants and cryoprotectant solutions using DSC and influx/efflux of cryoprotectants using HPLC; 3. assessing genetic stability of regenerants; and 4. revealing the efficiency of cryotherapy. Bulbil primordia, i.e. asexual bulbs formed on unripe inflorescences, proved to be the most suitable material for conservation of bolting varieties due to high post-cryopreservation regrowth and lower microbial infection level, followed by apical shoot apices from single bulbs and cloves. A total of 1,158 accessions of garlic as well as some Allium species have been cryopreserved during 2005-2010 using the droplet-vitrification technique with a mean regeneration percentage of 65.9 percent after cryostorage. These results open the door for large-scale implementation of cryostorage and for simplifying international exchange for clonal Allium germplasm.


Subject(s)
Allium/cytology , Cryopreservation/methods , Cryoprotective Agents , Germ Cells, Plant/cytology , Allium/physiology , Calorimetry, Differential Scanning , Chromatography, High Pressure Liquid , Cold Temperature , Germ Cells, Plant/physiology , Plant Diseases/virology , Plant Roots/growth & development , Plant Shoots/growth & development , Plant Viruses , Regeneration , Republic of Korea , Vitrification
14.
J Hum Genet ; 53(3): 254-266, 2008.
Article in English | MEDLINE | ID: mdl-18259685

ABSTRACT

Microsatellite markers are an essential tool for genetic linkage analysis because of their high polymorphism content. Four hundred commercially available markers covering the entire genome were genotyped from 578 sib individuals from 249 Korean families. Allelic frequencies and heterozygosities were determined for each marker loci and compared between Korean, Taiwanese, Japanese and Caucasian populations. In the three Asian populations, 10-13% of the markers had less than 0.6 heterozygosity, whereas in the Caucasian population, only 0.5% of the markers had less than 0.6 heterozygosity. Mean identical by descent (IBD) values were calculated for 578 sib individuals. Analysis of IBD values greater than 0.5 suggested that markers with low heterozygosity can also provide positive linkages, at least for the IBD sharing method of model-free linkage analysis. The data presented in this study will be a useful reference for genome-wide screens of Koreans and comparative studies with other ethnic populations.


Subject(s)
Asian People/genetics , Gene Frequency , Genome, Human , Microsatellite Repeats/genetics , Family , Genetic Carrier Screening , Genetic Markers , Humans , Korea , Taiwan/ethnology , White People/genetics
15.
J Hum Hypertens ; 21(2): 159-66, 2007 Feb.
Article in English | MEDLINE | ID: mdl-17066084

ABSTRACT

Essential hypertension (EH) is considered a typical polygenic disease, so the evaluation of gene-gene interactions rather than the determination of single gene effects is crucial to understanding any genetic influences. The G-protein beta3-subunit (GNB3) 825T allele, associated with enhanced G-protein signalling, is a strong candidate for interactions with polymorphisms, such as insertion/deletion (I/D) polymorphism of angiotensin I-converting enzyme (ACE) gene. We investigated whether there is an association between GNB3 C825T and ACE I/D polymorphisms for the development of EH. We carried out a case-control study of 688 hypertensive and 924 normotensive subjects recruited from South Korea. The GNB3 C825T and ACE I/D genotypes were determined by polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism methods, respectively. The distributions of alleles and genotypes for the GNB3 C825T and ACE I/D polymorphisms were not found to be significantly associated with hypertensive status in either males or females. Logistic regression analysis indicated that the GNB3 825T allele carriers were positively associated with EH in males (odds ratio (OR) for TT/CT, 1.459; 95% confidence interval (CI), 1.048-2.033, P=0.0255). In analysis of gene-gene interaction, we found that there was a significant interaction between the GNB3 825T and ACE D alleles (P<0.05). OR for EH was significantly higher in 825T allele carriers with ACE D allele (OR, 1.490; 95% CI, 1.117-1.987, P=0.0067). A significant interaction between the GNB3 825T and the ACE D alleles may contribute to the predisposing effect for the development of EH in Koreans.


Subject(s)
Heterotrimeric GTP-Binding Proteins/genetics , Hypertension/genetics , Peptidyl-Dipeptidase A/genetics , Polymorphism, Genetic , Adult , Aged , Alleles , Case-Control Studies , Female , Genotype , Humans , Logistic Models , Male , Middle Aged , Odds Ratio
16.
J Clin Pharm Ther ; 27(6): 419-25, 2002 Dec.
Article in English | MEDLINE | ID: mdl-12472981

ABSTRACT

OBJECTIVE: To determine population-based pharmacokinetic parameters for intravenous valproic acid, and the factors influencing these parameters, in Korean adults. METHODS: Valproic acid concentrations were obtained using a peak and trough sampling scheme for 102 Korean epileptic patients who were not taking concurrent antiepileptic medication. Three hundred and fifty-four serum concentrations were analysed according to a one-compartment model with a mixed effect modelling method (NONMEM Ver 5.0). The influence of body-weight (kg), height, daily valproic acid dose (mg/day), body mass index (kg/m2), sex, and age on volume of distribution (Vd) and clearance (CL) was assessed in the course of analysis. RESULTS: Vd and CL of valproic acid increased with body-weight. No significant influence of the other screened covariates was observed. The final regression model was: [equation: see text]. Interindividual variabilities (coefficient of variation) for CL and Vd were 32 and 18%, respectively. Residual error including intraindividual variability was 26.7%. CONCLUSION: The current results may be used as a basic reference to optimize drug therapy with intravenous valproic acid. Further research on the paediatric population is necessary to confirm the non-linearity of the relation between body-weight and Vd.


Subject(s)
Anticonvulsants/pharmacokinetics , Valproic Acid/pharmacokinetics , Adolescent , Adult , Aged , Aged, 80 and over , Anticonvulsants/administration & dosage , Anticonvulsants/blood , Asian People , Bayes Theorem , Body Mass Index , Epilepsy/drug therapy , Female , Humans , Infusions, Intravenous , Korea , Male , Middle Aged , Models, Biological , Valproic Acid/administration & dosage , Valproic Acid/blood , Valproic Acid/therapeutic use
17.
Forensic Sci Int ; 123(2-3): 230-1, 2001 Dec 01.
Article in English | MEDLINE | ID: mdl-11728753

ABSTRACT

Allele frequency and forensic parameters for eleven STR loci were surveyed in a random sample from the Korean population.


Subject(s)
Gene Frequency , Tandem Repeat Sequences/genetics , Humans , Korea
18.
Int J Legal Med ; 115(2): 109-17, 2001 Oct.
Article in English | MEDLINE | ID: mdl-11724428

ABSTRACT

We have developed four multiplex genotyping systems (GeneKin Y-STR multiplexes) using silver staining with allelic ladders for ten Y-chromosome STR markers (DYS19, DYS385, DYS388, DYS389I/II, DYS390, DYS391, DYS392, DYS393 and DXYS156Y), with a view towards the application of rapid and simple genotyping assay methods for DNA profiling. The GeneKin Y-STR multiplexes developed have followed the published nomenclature and ISFG guidelines for STR analysis. Allele and haplotype frequencies at these Y-STRs loci were analysed by PCR amplification using the GeneKin Y-STR multiplexes, followed by denaturing polyacrylamide gel electrophoresis in 316 unrelated males in the Korean population. A total of 295 different haplotypes were found, 279 of them being unique. Gene diversity ranged from 0.4026 at DYS391 to 0.9606 at DYS385. The haplotype diversity value (which is the same as the discrimination index) calculated from all ten loci combined was 0.9995, which is informative. Our results revealed that a set of ten Y-STRs can discriminate between most of the male individuals in the Korean population (discrimination capacity: 93.35%). The Y-STR multiplexes thus provide useful information for forensic analysis and paternity tests and can also be of great benefit for providing information not normally available from autosomal DNA systems.


Subject(s)
DNA/genetics , Tandem Repeat Sequences , Y Chromosome , Alleles , Electrophoresis, Polyacrylamide Gel , Forensic Medicine , Gene Frequency , Genotype , Humans , Korea , Male , Paternity , Polymerase Chain Reaction
19.
J Opt Soc Am A Opt Image Sci Vis ; 18(7): 1477-86, 2001 Jul.
Article in English | MEDLINE | ID: mdl-11444539

ABSTRACT

We present an experimental study on the diffraction of light by an aperture small compared with the wavelength. The aperture is illuminated by laser light guided in a metal-clad tapered optical fiber. We investigate different orientations of the aperture in the plane: normal to the cleaved plane, oblique to the cleaved plane, and off-center. We measure the far-field, two-dimensional intensity distributions of the diffracted light as functions of angle coordinates theta and phi in a full half-space for various polarization states and analyze the patterns by using low-order multipole fields. We also examine the near- and far-field effects of placing small periodic corrugations near the aperture, focusing on the role of surface-wave excitations. We measure the near-field intensity distributions near the aperture with a near-field scanning optical microscope and discuss their relation to the far-field diffracted fields.

20.
Forensic Sci Int ; 115(3): 231-7, 2001 Jan 15.
Article in English | MEDLINE | ID: mdl-11074178

ABSTRACT

Allele and haplotype frequencies of seven Y-chromosome STR loci were determined from a sample of 330 unrelated males in the Korean population.


Subject(s)
Asian People/genetics , DNA Fingerprinting/methods , Gene Frequency/genetics , Haplotypes/genetics , Minisatellite Repeats/genetics , Y Chromosome/genetics , Genetic Variation/genetics , Humans , Korea , Male , Molecular Sequence Data , Polymerase Chain Reaction/methods
SELECTION OF CITATIONS
SEARCH DETAIL