• Molecules and Cells
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• 제39권5호
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• pp.382-388
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• 2016

Inherited peripheral neuropathies (IPN), which are a group of clinically and genetically heterogeneous peripheral nerve disorders including Charcot-Marie-Tooth disease (CMT), exhibit progressive degeneration of muscles in the extremities and loss of sensory function. Over 70 genes have been reported as genetic causatives and the number is still growing. We prepared a targeted gene panel for IPN diagnosis based on next generation sequencing (NGS). The gene panel was designed to detect mutations in 73 genes reported to be genetic causes of IPN or related peripheral neuropathies, and to detect duplication of the chromosome 17p12 region, the major genetic cause of CMT1A. We applied the gene panel to 115 samples from 63 non-CMT1A families, and isolated 15 pathogenic or likelypathogenic mutations in eight genes from 25 patients (17 families). Of them, eight mutations were unreported variants. Of particular interest, this study revealed several very rare mutations in the SPTLC2, DCTN1, and MARS genes. In addition, the effectiveness of the detection of CMT1A was confirmed by comparing five 17p12-nonduplicated controls and 15 CMT1A cases. In conclusion, we developed a gene panel for one step genetic diagnosis of IPN. It seems that its time- and cost-effectiveness are superior to previous tiered-genetic diagnosis algorithms, and it could be applied as a genetic diagnostic system for inherited peripheral neuropathies.

• Asian-Australasian Journal of Animal Sciences
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• 제20권11호
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• pp.1625-1630
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• 2007

A simulation study was conducted to evaluate the effect of reciprocal cross on the detection and characterization of Mendelian QTL in $F_2$ QTL swine populations. Data were simulated under two different mating designs. In the one-way cross design, six $F_0$ grand sires of one breed and 30 $F_0$ grand dams of another breed generated 10 $F_1$ offspring per dam. Sixteen $F_1$ sires and 64 $F_1$ dams were randomly chosen to produce a total of 640 $F_2$ offspring. In the reciprocal design, three $F_0$ grand sires of A breed and 15 $F_0$ grand dams of B breed were mated to generate 10 $F_1$ offspring per dam. Eight $F_1$ sires and 32 $F_1$ dams were randomly chosen to produce 10 $F_2$ offspring per $F_1$ dam, for a total of 320 $F_2$ offspring. Another mating set comprised three $F_0$ grand sires of B breed and 15 $F_0$ grand dams of A breed to produce the same number of $F_1$ and $F_2$ offspring. A chromosome of 100 cM was simulated with large, medium or small QTL with fixed, similar, or different allele frequencies in parental breeds. Tests between Mendelian models allowed QTL to be characterized as fixed (LC QTL), or segregating at similar (HS QTL) or different (CB QTL) frequencies in parental breeds. When alternate breed alleles segregated in parental breeds, a greater proportion of QTL were classified as CB QTL and estimates of QTL effects for the CB QTL were more unbiased and precise in the reciprocal cross than in the one-way cross. This result suggests that reciprocal cross design allows better characterization of Mendelian QTL in terms of allele frequencies in parental breeds.

• 대한장애인치과학회지
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• 제3권2호
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• pp.75-79
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• 2007

Background: Down's syndrome, or trisomy 21, is the commonest congenital chromosome anomaly. With improvement in medical care, these patients increasingly reach adulthood in spite of their physical maldevelopment and mental retardation. And, the number of those who required general anesthesia for dental treatment is increasing. Methods: We reviewed the 26 cases of 22 patients with Down's syndrome who underwent outpatient general anesthesia for dental treatment at the clinic for the disabled in Seoul National University Dental Hospital. Results: The mean age was 22 years. They all had severe mental retardation and some had congenital heart anomaly, epilepsy, hypothyroidism, acute leukemia, autism, cleft palate, and chronic renal failure. For anesthesia induction, 4 cases was needed physical restriction, but others showed good or moderate cooperation. Drugs used for anesthesia induction was thiopental (17 cases) and sevoflurane (9 cases). All patients received nasotracheal intubation and 3 cases needed difficult airway management. Mean total anesthetic time was $166{\pm}60$ min and staying time at PACU was $92{\pm}48$ min. There was no death or long term hospitalization because of severe complications. Conclusion: If general anesthesia is needed, pertinent diagnostic tests and workup about anomaly, and appropriate anesthetic planning are essential for safety.

• Asian-Australasian Journal of Animal Sciences
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• 제19권11호
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• pp.1574-1579
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• 2006

This study was performed to determine the developmental potentials of nuclear transfer (NT) embryos using life-span extended cells transfected with a foreign gene as donor cells. A life-span extended bovine embryonic fibroblast cell line was transfected with an expression vector in which the human type II collagen (BOMAR) and ear fibroblasts were used as a donor cell. Cytogenetic analysis was performed to analyze the chromosomal abnormality of donor cells. The fusion rate of 1.8 kV/cm for $15{\mu}sec$ given twice was significantly higher than that of other groups (p<0.05) and the embryos lysed were significantly higher after 1.8 kV/cm for $20{\mu}sec$ given once compared to other groups (p<0.01). The blastocyst development in the ear cell group was statistically significant compared to both BOMAR groups (p<0.01). Both BOMAR groups cultured more than 40 passages (>40 passages) had a lower number of chromosomes; however, fresh granulosa cell (GC) and BOMAR groups cultured less than 20 passages had normal chromosome numbers. Both >40 passages BOMAR groups had numerous obscure debris in metaphase spreads. The transfected foreign gene was expressed in all BOMAR groups, but not in the GC group. Based on these results, the lower developmental potential of NT embryos using life-span extended donor cells transfected with a foreign gene might be a cause of chromosomal abnormality in donor cells.

• Asian-Australasian Journal of Animal Sciences
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• 제30권8호
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• pp.1066-1073
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• 2017

Objective: Growth-related traits are important economic traits in the swine industry. However, the genetic mechanism of growth-related traits is little known. The aim of this study was to screen the candidate genes and molecular markers associated with body dimension and body weight traits in pigs. Methods: A genome-wide association study (GWAS) on body dimension and body weight traits was performed in a White $Duroc{\times}Erhualian$ $F_2$ intercross by the illumina PorcineSNP60K Beadchip. A mixed linear model was used to assess the association between single nucleotide polymorphisms (SNPs) and the phenotypes. Results: In total, 611 and 79 SNPs were identified significantly associated with body dimension traits and body weight respectively. All SNPs but 62 were located into 23 genomic regions (quantitative trait loci, QTLs) on 14 autosomal and X chromosomes in Sus scrofa Build 10.2 assembly. Out of the 23 QTLs with the suggestive significance level ($5{\times}10^{-4}$), three QTLs exceeded the genome-wide significance threshold ($1.15{\times}10^{-6}$). Except the one on Sus scrofa chromosome (SSC) 7 which was reported previously all the QTLs are novel. In addition, we identified 5 promising candidate genes, including cell division cycle 7 for abdominal circumference, pleiomorphic adenoma gene 1 and neuropeptides B/W receptor 1 for both body weight and cannon bone circumference on SSC4, phosphoenolpyruvate carboxykinase 1, and bone morphogenetic protein 7 for hip circumference on SSC17. Conclusion: The results have not only demonstrated a number of potential genes/loci associated with the growth-related traits in pigs, but also laid a foundation for studying the genes' role and further identifying causative variants underlying these loci.

• 농업과학연구
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• 제45권3호
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• pp.385-400
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• 2018

Marker-assisted backcrossing (MABC) is useful for selecting offspring with a highly recovered genetic background for a recurrent parent at early generation unlike rice and other field crops. Molecular marker sets applicable to practical MABC are scarce in vegetable crops including tomatoes. In this study, we used the National Center for Biotechnology Information- short read archive (NCBI-SRA) database that provided the whole genome sequences of 234 tomato accessions and selected 27,680 tag-single nucleotide polymorphisms (tag-SNPs) that can identify haplotypes in the tomato genome. From this SNP dataset, a total of 143 tag-SNPs that have a high polymorphism information content (PIC) value (> 0.3) and are physically evenly distributed on each chromosome were selected as a MABC marker set. This marker set was tested for its polymorphism in each pairwise cross combination constructed with 124 of the 234 tomato accessions, and a relatively high number of SNP markers polymorphic for the cross combination was observed. The reliability of the MABC SNP set was assessed by converting 18 SNPs into Luna probe-based high-resolution melting (HRM) markers and genotyping nine tomato accessions. The results show that the SNP information and HRM marker genotype matched in 98.6% of the experiment data points, indicating that our sequence analysis pipeline for SNP mining worked successfully. The tag-SNP set for the MABC developed in this study can be useful for not only a practical backcrossing program but also for cultivar identification and F1 seed purity test in tomatoes.

• 한국정보과학회논문지:시스템및이론
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• 제33권6호
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• pp.316-325
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• 2006

인간과 같은 2배체의 각 염색체는 부모로부터 물려받은 2벌의 복제로 이루어져 있다. 이들 각 복제에서 SNP(single nucleotide polymorphism) 서열 정보를 하플로타입이라 부른다. 인간의 하플로타입 지도를 완전히 찾는 것은 인간 지놈의 중요한 작업 중의 하나인데, 실험적인 방법으로 하플로타입을 직접 얻는 것은 시간이 많이 걸리고 비용이 많이 든다. 따라서 두 하플로타입 정보가 혼합된 지노타입의 샘플들로부터 하플로타입을 추론하는 것에 대하여 연구되어왔다. 이 논문에서는 지노타입들을 설명하는 최소 개수의 하플로타입들을 찾는 모델(최소 하플로타입 추론문제)에 근거하여, 유전자 알고리즘을 사용하여 하플로타입을 추론하는 새로운 접근 방법을 제시한다. 좋은 결과를 주는 것으로 알려진 HAPAR[1]와 이 논문에 제시한 알고리즘을 컴퓨터 실험에 의한 비교를 통하여, 입력이 클 때 이 논문의 알고리즘이 수행시간은 적게 걸리면서 정확성이 비슷함을 보인다. 또한 이 실험 결과를 최근에 제시된 방법인 PTG[2]와 비교한다.

• Parasites, Hosts and Diseases
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• 제30권3호
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• pp.183-190
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• 1992

한국 내에서 사육 공급하는 실험실용 흰쥐를 실험적으로 면역억제하여 Pneumocystis carinii (Pc)를 발현시키고, 이를 순수하게 모아서 전기영동을 이용한 핵형을 분석하였다. Field Inversion Gel Electrophoresis와 Contour Clamped Homogeneous Electric Field Electrophoresis를 사용하여 분리한 염색체 밴드는 Sprague Dawley(SD) 와 Fisher(F) 계 횐쥐 모두에서 15개 씩 이었다. 크기는 수D 횐쥐의 경우 270~684kb, 횐쥐에서 얻은 표본에서 273~713kb에 있었다. 이 중에서 SD 된쥐에서 얻은 것은 283kb의 염색체가, 횐쥐의 표본은 273 kb의 염색체가 특히 강하게 염색되어 두 개 이상의 같은 크기 분자가 중칩된 것으로 보인다. 그러므로 전체 염색체는 최소한 16개이며 각 염색체의 크기로 계산된 염색체 내 전체 유전자의 크기는 $7{\times}10^6{\;}bp$의 수준에 있다. F흰쥐에서 유래한 Pc는 전 염색체 분자가 공유하는 반복 염기서열을 가지며, 448kb 염색체가 rRNA의 유전자를 갖고 있었다. 그러나 SD횐쥐의 Pc표본에서는 어느 염색체 분자에서도 반복 염기서열과 rRNA유전자를 확인하지 못하였다. 두 개의 휜쥐 계통 군은 각각 2년간 같은 핵형의 Pc를 유지하였다. (이 연구는 한국과학재단 1990년도 일반과제 연구비 지원에 의하여 수행되었음)

• 한국국방경영분석학회지
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• 제36권3호
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• pp.29-42
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• 2010

운용과학의 군사 응용 분야 중 하나인 무장-표적 할당문제는 NP-complete 문제로 알려져 있어 주어진 시간내에 최적해를 구할 수 없으므로 휴리스틱 방법에 의해 빠른 시간 내에 우수한 해를 구하는 것이 더 의미가 있다. 본 연구에서는 보다 효율적으로 해를 도출할 수 있는 방법을 개발하기 위해 전형적인 문제를 재구성하여 단순화 시켰다. 이러한 문제 하에서 두가지 유전자 알고리즘인 표적번호 표현 방법과 순열 표현방법을 비교하였고, 구성적 휴리스틱, 향상적 휴리스틱들을 개발하여 비교하였다. 무장의 파괴확률 간에 이행성 규칙이 존재하는 경우를 대상으로 실험을 수행한 결과 구성적 휴리스틱의 해를 초기해로 하여 교환에 기초한 향상적 계산 시간이나 해의 질 측면에서 가장 우수한 해를 생성하였다. 그러나, 구성적 휴리스틱의 효율성은 무장 성능 간 이행성 규칙에 민감한 결과를 나타내었다.

• BMB Reports
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• 제33권2호
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• pp.184-187
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• 2000

Prostaglandin $E_2$ ($PGE_2$) plays an important role in the regulation of various gastric functions, and the growth-inhibitory activities on tumor cells are studied in vitro and in vivo. Although the mechanisms have attracted many researchers in the past decade, the molecular mechanisms of cell cycle arrest, or induction of apoptosis by $PGE_2$, is unclear. We investigated the effects of $PGE_2$ on the growth of the human gastric carcinoma cell line SNU1 and genes that are regulated by $PGE_2$ and isolated them using differential display RT-PCR (DD RT-PCR). FACS analysis suggested that SNU1 cells were arrested at the G1 phase by $PGE_2$ treatment. This growth inhibitory effect was in a time- and dose-dependent manner. Treatment of SNU1 cells with $10\;{\mu}g/ml$ $PGE_2$, followed by DD RT-PCR analysis, revealed differently expressed bands patterns from the control. Among the differently expressed clones, we found an unidentified cDNA clone (HGP-27) overexpressed in $PGE_2$-treated cells. The full-length cDNA of HGP-27 was isolated using RACE, which consisted of a 30-nt 5'-noncoding region, a 891-nt ORF encoding the 296 amino acid protein, and a 738-nt 3'-noncoding region including a poly(a) signal. This gene was localized on the short arm of chromosome number 11. Using the Motif Finder program, a myb-DNA binding repeat signature was detected on the ORF region. The COOH-terminal half was shown to have similarity with the $NH_3$-terminal domain of thioredoxin (Trx). This relation between HGP-27 and Trx implied a potential role for HGP-27 in modulating the DNA binding function of a transcription factor, myb.