• Clinical and Experimental Pediatrics
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• v.48 no.11
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• pp.1252-1255
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• 2005

Abnormalities in the levels of thyroxine-binding globulin (TBG) are not associated with clinical disease and they do not require treatment. Congenital TBG deficiency is inherited in an X-linked manner. To date, some complete and partial TBG variants and one polymorphism have been identified by analysis of the TBG gene. Two male neonates were referred to us because of their low $T_4$ levels that were noted on the neonatal screening test. They showed normal levels of free $T_4$ and TSH. Their serum TBG was not detectable and those values of their parents were within the normal ranges. The genomic DNA was extracted from their white blood cells and the four coding exons of the TBG gene were amplified by using polymerase chain reaction. Sequencing of the four coding regions and all the intron/exon junctions revealed a single nucleotide deletion of the first base of the codon 352 of the mature protein in both of the neonates. This mutation resulted in a frameshift and a premature stop codon (TGA) 374. Their mothers were shown to be heterozygotes. We detected a single nucleotide deletion resulting in a frameshift in two male Korean neonates who had complete TBG deficiency.

• Journal of Animal Science and Technology
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• v.44 no.3
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• pp.279-288
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• 2002

This study was performed to discriminate defective loci by detection of congenital genetic disorder, to offer basic data for selection and improvement of Korean dairy cattle using frozen semen of Holstein bulls(16 proven and 93 candidate). The results obtained were as follows ; By the detection of DUMP(deficiency of uridine monophophate synthase) for 109 Holstein bulls(16 proven and 93 candidate), DUMP carrier was not found in whole animals. Also, it was possible to early detection of DUMP carrier by using PCR-RFLP(AvaⅠ). As the results of detection for BLAD(bovine leukocyte adhesion deficiency), BLAD carrier was not found in 16 proven bulls. But 5 candidtae bulls are discriminated to BLAD carrier, and it could be predicted to transmitted pathway of inherited loci by pedigree identification. Also, when digesting PCR products using restriction enzyme, results from TaqⅠ restriction enzyme were more efficient than that of HaeⅢ. After detection test of citrullinaemia, it was concluded that proven and candidate bulls were not. However, wide range of research and citrullinaemia genotyping should be performed. As a result of this study, the wide and various research should be performed in genetic disease of animal. And in the selection and breeding of animal, the breeding scheme by completely and continuously management of pedigree should be established.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.11 no.2
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• pp.720-726
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• 2010

Haplotype-based research has become increasingly important in the field of personalized medicine since the haplotype reflects a set of SNPs (Single Nucleotide Polymorphisms) that are genetically associated and inherited together. Currently, the most widely used application softwares available for haplotype reconstruction, based on in silico method, include PL-EM, Haplotyper, PHASE and HAP. PL-EM, Haplotyper and PHASE are command-line application running on LINUX or Unix system and HAP is a web-based client-server application. This paper deals with an integrated haplotype reconstruction system that have been developed with PL-EM and Haplotyper selected from the accuracy test with experimentally verified data on public application softwares. This integrated system is a kind of client-sever one with user friendly web interface and can provide end-users with a high quality of haplotype analysis. SNPs genotype data with a length of 5 derived from 5 people and SNPs genotype data with a length of 13 derived from 15 people were used to test the analysis results of Haplotyper and PL-EM respectively. As a result, this system has been confirmed to provide the systematic and easy-to-understand analysis results that consist of two main parts, i.e. individual haplotype information and haplotype pool information. In this respect, the integration system will be utilized as a useful tool for the discovery of disease related genes and the development of personalized drugs through facilitating the reconstruction of haplotype maps.

• Current Research on Agriculture and Life Sciences
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• v.12
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• pp.29-34
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• 1994

A leading sweet pepper cultivar, Keystone Resistant Giant #3, was crossed with a line with resistance to Phytophthora capsici, PI201232, for incorporation of the resistance and to study the inheritance of resistance to the disease. Seedlings of parents, $F_1$, $F_2$ and backcross populations of a cross between Keystone Resistant Giant #3 and PI201232 were inoculated with zoospore suspension of P. capsici at 36 days after seeding. Most of the $F_1$ seedlings survied the inoculation and this suggested that resistance is dominant over susceptibility. The number of survived plants in $F_2$ population was, however, much less than the killed. All the plants in a backcross to Keystone Resistant Giant #3 were killed. Therefore, the observed numbers did not fit the expected ratio for segregation of one or two dominant alleles as previously reported. The resistance to P. capsici appeared to be inherited in a quantitative mode in evaluation of root rot. Resistant individuals in $F_2$ population were selected and a breeding program for incorporation of the resistance to P. capsici by backcross method is continued.

• Journal of Sasang Constitutional Medicine
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• v.12 no.1
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• pp.37-47
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• 2000

We detect lots of problems on the manufacturing spot because of working results done without considering the aptitude and inherited temper(constitution, blood type, male and female) of the worker, and they lead to results not only the occupational disease and the cause of industrial accidents but also quality deterioration and productivity reduction in point of view of manufacturing management. For the purpose of solving these problems, this study is perfomed by grasping the correlation sasang constitutions and job characteristic of small & medium enterprises. We classify sasang constitutions to four types : so-yang-in type, tae-yang-in type, tae-em-in type, so-em-in type by the utilization of QSCC II and the doctor aid of oriental medicine, and also survey differences of classified sasang constitutions with previous studies. This study tries to identify significant features between major jobs resulting from sasang constitution types in a specific small & medium enterprise producing agricultural machinery(a tractor, a combine, etc). The results of this case study indicate that sasang constitution types influences job types. Under the working conditions that virtual reality scene photographed by video camera are running, also the effects of brain function of each worker using Electroencephalograms(EEGs) are investigated. Electroencephalograms(EEGs) provide much information about the brain function, such as relaxation, concentration, various thoughts and so on. Previous studies reported the appearance of ${\theta}$ waves and an increase in the ${\alpha}$ waves during psychologically satisfaction conditions. An statistical analysis of experiments conducted shows the various changes of brain waves(${\alpha},{\beta},{\theta},{\delta}$ waves). By means of these study results, we can identify that sasang constitutions should be applied to contribute much to quality advancement and productivity improvement through a comparative study on the job characteristic.

• Proceedings of the Korea Water Resources Association Conference
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• 2008.05a
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• pp.694-698
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• 2008

In hydrology, it is a difficult task to deal with multivariate time series such as modeling streamflows of an entire complex river system. Normal distribution based model such as MARMA (Multivariate Autorgressive Moving average) has been a major approach for modeling the multivariate time series. There are some limitations for the normal based models. One of them might be the unfavorable data-transformation forcing that the data follow the normal distribution. Furthermore, the high dimension multivariate model requires the very large parameter matrix. As an alternative, one might be decomposing the multivariate data into independent components and modeling it individually. In 1985, Lins used Principal Component Analysis (PCA). The five scores, the decomposed data from the original data, were taken and were formulated individually. The one of the five scores were modeled with AR-2 while the others are modeled with AR-1 model. From the time series analysis using the scores of the five components, he noted "principal component time series might provide a relatively simple and meaningful alternative to conventional large MARMA models". This study is inspired from the researcher's quote to develop a multivariate simulation model. The multivariate simulation model is suggested here using Principal Component Analysis (PCA) and Independent Component Analysis (ICA). Three modeling step is applied for simulation. (1) PCA is used to decompose the correlated multivariate data into the uncorrelated data while ICA decomposes the data into independent components. Here, the autocorrelation structure of the decomposed data is still dominant, which is inherited from the data of the original domain. (2) Each component is resampled by block bootstrapping or K-nearest neighbor. (3) The resampled components bring back to original domain. From using the suggested approach one might expect that a) the simulated data are different with the historical data, b) no data transformation is required (in case of ICA), c) a complex system can be decomposed into independent component and modeled individually. The model with PCA and ICA are compared with the various statistics such as the basic statistics (mean, standard deviation, skewness, autocorrelation), and reservoir-related statistics, kernel density estimate.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.36 no.4
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• pp.303-308
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• 2010

Excessive oral and maxillofacial bleeding causes upper airway obstruction, bronchotracheal and gastric aspiration and hypovolemic shock. Therefore, the rapid and correct bleeding control is very important for saving lives in the emergency room. Despite the conventional bleeding control methods of wiring (jaw fracture, wound suture and direct pressure), continuous bleeding can occur due to the presence of various bleeding disorders. There are five main causes for excessive bleeding disorders in the clinical phase; (1) vascular wall alteration (infection, scurvy etc.), (2) disorders of platelet function (3) thrombocytopenic purpura (4) inherited disorders of coagulation, and (5) acquired disorders of coagulation (liver disease, anticoagulant drug etc.). In particular, infections can alter the structure and function of the vascular wall to a point at which the patient may have a clinical bleeding problem due to vessel engorgement and erosion. Wound infection is a frequent cause of postoperative active bleeding. To prevent postoperative bleeding, early infection control using a wound suture with proper drainage establishment is very important, particularly in the active bleeding sites in a contaminated emergency room. This is a case report of a rational bleeding control method by rapid wiring, wound suture with drainage of a rubber strip & iodoform gauze and wet gauze packing, in a 26-year-old male cerebral palsy patient with active oral and maxillofacial bleeding injuries caused by a traffic accident.

• Journal of Genetic Medicine
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• v.6 no.2
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• pp.131-145
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• 2009

Preimplantation genetic diagnosis (PGD) has become an assisted reproductive technique for couples who are at risk that enables them to have unaffected baby without facing the risk of pregnancy termination after invasive prenatal diagnosis. The molecular biology and technology for single-cell genetics has reached an extremely high level of accuracy, and has enabled the possibility of performing multiple diagnoses on one cell using whole genome amplification. These technological advances have contributed to the avoidance of misdiagnosis in PGD for single gene disorders. Polymerase chain reaction (PCR)-based PGD will lead to a significant increase in the number of disorders diagnosed and will find more widespread use, benefiting many more couples who are at risk of transmitting an inherited disease to their baby. In this review, we will focus on the molecular biological techniques that are currently in use in the most advanced centers for PGD for single gene disorders, including biopsy procedure, multiplex PCR and post-PCR diagnostic methods, and multiple displacement amplification (MDA) and the problems in the single cell genetic analysis.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.8 no.2
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• pp.127-133
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• 2012

Ehlers-Danlos syndrome (EDS), an inherited connective tissue disorder, is caused by mutations in genes encoding different types of collagen or collagen-processing enzymes. EDS most typically affects the joints, ligaments, skin, and blood vessels. Oral health may be severely compromised in EDS as a result of specific alterations of collagen in orofacial structures. Dental hard tissue defects, root dilaceration, pulp stones, ectopic or delayed eruption, impaction, and periodontal disease could be observed. Therefore, a number of tissue responses related to collagen and precautions should be anticipated when considering dental treatment in EDS. Long-term and comprehensive dental management is required. The purpose of this report is to describe a clinical case of eruption disorders in a patient with EDS.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.12
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• pp.4915-4920
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• 2015

Background: : Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease mainly caused by mutations of the adenomatous polyposis coli (APC) gene with almost complete penetrance. These colorectal polyps are precancerous lesions that will inevitable develop into colorectal cancer at the median age of 40-year old if total proctocolectomy is not performed. So identification of APC germline mutations has great implications for genetic counseling and management of FAP patients. In this study, we screened APC germline mutations in Chinese FAP patients, in order to find novel mutations and the APC gene germline mutation characteristics of Chinese FAP patients. Materials and Methods: The FAP patients were diagnosed by clinical manifestations, family histories, endoscope and biopsy. Then patients peripheral blood samples were collected, afterwards, genomic DNA was extracted. The mutation analysis of the APC gene was conducted by direct polymerase chain reaction (PCR) sequencing for micromutations and multiplex ligation-dependent probe amplification (MLPA) for large duplications and/or deletions. Results: We found 6 micromutations out of 14 FAP pedigrees, while there were no large duplications and/or deletions found. These germline mutations are c.5432C>T(p. Ser1811Leu), two c.3926_3930delAAAAG (p.Glu1309AspfsX4), c.3921_3924delAAAA (p.Ile1307MetfsX13), c3184_3187delCAAA(p.Gln1061AspfsX59) and c4127_4126delAT (p.Tyr1376LysfsX9), respectively, and all deletion mutations resulted in a premature stop codon. At the same time, we found c.3921_3924delAAAA and two c.3926_3930delAAAAG are located in AAAAG short tandem repeats, c3184_3187delCAAA is located in the CAAA interrupted direct repeats, and c4127_4128 del AT is located in the 5'-CCTGAACA-3', 3'-ACAAGTCC-5 palindromes (inverted repeats) of the APC gene. Furthermore, deletion mutations are mostly located at condon 1309. Conclusions: Though there were no novel mutations found as the pathogenic gene of FAP in this study, we found nucleotide sequence containing short tandem repeats and palindromes (inverted repeats), especially the 5 bp base deletion at codon 1309, are mutations in high incidence area in APC gene,.