• Journal of Genetic Medicine
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• 제14권2호
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• pp.56-61
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• 2017

Purpose: Neurofibromatosis type 2 (NF2) is characterized by multiple tumors, including vestibular schwannoma (VS) and others affecting cranial and peripheral nerves. NF2 is caused by mutation of the NF2 gene. The mutation spectrum of NF2 has not been characterized in Korean patients. In the current study, the clinical and genetic characteristics of Korean NF2 patients were analyzed. Materials and Methods: Twenty-five unrelated Korean families were enrolled according to the Manchester criteria. Genetic analysis was performed by direct sequencing and multiplex ligation-dependent probe amplification methods using genomic DNA from peripheral lymphocytes or tumor tissues. Results: All patients had bilateral/unilateral VS and/or other cranial and peripheral nerve tumors. Two patients were familial cases and the other 24 patients were sporadic. Germline NF2 mutations were detected in peripheral lymphocytes from both familial cases, but only in 26.1% of the 23 sporadic families. Somatic mutations were also found in tumor tissues from two of the sporadic families. These somatic mutations were not found in peripheral lymphocytes. A total of 10 different mutations including 2 novel mutations were found in 40.0% of studied families. Five mutations (50.0%) were located in exon 6 of NF2, the FERM domain coding region. Conclusion: Family history was an important factor in identifying germline NF2 mutations. Further study is required to investigate whether exon 6 is a mutation hotspot in Korean NF2 patients and its correlation to phenotypic severity.

• Journal of Audiology & Otology
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• 제23권1호
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• pp.20-26
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• 2019

Background and Objectives: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. Subjects and Methods: Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project). Results: A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p<0.001). Conclusions: Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population.

• 대한청각학회지
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• 제23권1호
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• pp.20-26
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• 2019

Background and Objectives: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. Subjects and Methods: Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project). Results: A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p<0.001). Conclusions: Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population.

• 한국인터넷방송통신학회논문지
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• 제9권1호
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• pp.75-87
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• 2009

본 논문에서 이미지 선명도 함수의 최적화에 의해 융합 법칙이 유도되는 새로운 이미지 융합 접근법을 제안한다. 선명도 함수에 비교하여 소스 이미지로부터 최적 블록을 통계적으로 선택하기 위하여 유전자 알고리듬이 사용되었다. 변이 연산에 의해 만들어진 유전인자들의 포격을 통해서 찾아진 재능 유전 인자를 갖는 새로운 네스티드 유전자 알고리듬을 설계하였고 구현하였다. 알고리듬의 수렴은 해석적으로, 실험적으로 그리고 통계적으로 3개의 테스트 함수를 사용하여 표준 GA와 비교하였다. 결과의 GA는 변수와 집단 크기에 불변이며, 최소 20 개체이면 시험에 충분하다는 것을 알 수 있었다. 융합 응용에서 모집단내의 각 개체는 입력 블록을 나타내는 유한한 이산 값을 갖는 개체이다. 이미지 융합 실험에 제안한 기법의 성능은 출력 품질 척도로 상호 정보량(MI)으로 특징지워진다. 제안한 방법은 C=2 입력 이미지에 대해 테스트되었다. 제안한 방법의 실험 결과는 현재의 다중 초점 이미지 융합 기법에 대한 실제적이고 매력적인 대안이 됨을 보여준다.

• Journal of Genetic Medicine
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• 제11권1호
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• pp.22-26
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• 2014

Maple syrup urine disease (MSUD) is a disorder that involves the metabolism of branched chain amino acids, arising from a defect in branched-chain ${\alpha}$-keto acid dehydrogenase complex. Mutations have been identified in the BCKDHA, BCKDHB, or DBT genes, which encode different subunits of the BCKDH complex. Although encephalopathy and progressive neurodegeneration are its major manifestations, the severity of the disease may range from the severe classic type to milder intermediate variants. We report two Korean siblings with the milder intermediate MSUD who were diagnosed with MSUD by a combination of newborn screening tests using tandem mass spectrometry and family genetic screening for MSUD. At diagnosis, the patients' plasma levels were elevated for leucine, isoleucine, valine, and alloisoleucine, and branched-chain ${\alpha}$-keto acids and branched-chain ${\alpha}$-hydroxy acids were detected in their urine. BCKDHA, BCKDHB, and DBT analysis was performed, and two novel mutations were identified in BCKDHB. Our patients were thought to have the milder intermediate variant of MSUD, rather than the classic form. Although MSUD is a typical metabolic disease with poor prognosis, better outcomes can be expected if early diagnosis and prompt management are provided, particularly for milder forms of the disease.

• Genomics & Informatics
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• 제6권4호
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• pp.166-172
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• 2008

A multitude of protein-coding sequence variations (CVs) in the human genome have been revealed as a result of major initiatives, including the Human Variome Project, the 1000 Genomes Project, and the International Cancer Genome Consortium. This naturally has led to debate over how to accurately assess the functional consequences of CVs, because predicting the functional effects of CVs and their relevance to disease phenotypes is becoming increasingly important. This article surveys and compares variation databases and in silico prediction programs that assess the effects of CVs on protein function. We also introduce a combinatorial approach that uses machine learning algorithms to improve prediction performance.

• Toxicological Research
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• 제34권4호
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• pp.297-302
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• 2018

Cells are constantly exposed to endogenous and exogenous chemical and physical agents that damage their genome by forming DNA lesions. These lesions interfere with the normal functions of DNA such as transcription and replication, and need to be either repaired or tolerated. DNA lesions are accurately removed via various repair pathways. In contrast, tolerance mechanisms do not remove lesions but only allow replication to proceed despite the presence of unrepaired lesions. Cells possess two major tolerance strategies, namely translesion synthesis (TLS), which is an error-prone strategy and an accurate strategy based on homologous recombination (homology-dependent gap repair [HDGR]). Thus, the mutation frequency reflects the relative extent to which the two tolerance pathways operate in vivo. In the present paper, we review the present understanding of the mechanisms of TLS and HDGR and propose a novel and comprehensive view of the way both strategies interact and are regulated in vivo.

• 한국산업정보학회논문지
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• 제10권4호
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• pp.16-25
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• 2005

본 논문에서는 최적의 이진 위상 컴퓨터형성홀로그램을 설계하기 위해 SA 및 GA를 합성한 새로운 방법을 제안하였다. 블럭단위 탐색을 하는 GA의 교배연산 및 돌연변이 연산과정 후에 화소단위의 면밀한 탐색을 하는 SA 알고리듬을 삽입하므로써 BPCGH의 성능을 개선시켰다. 컴퓨터 시뮬레이션에서 제안된 합성 반복 알고리듬이 기존의 SA 알고리듬보다 회절효율이 향상됨을 보였다.

• Structural Monitoring and Maintenance
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• 제1권4호
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• pp.427-449
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• 2014

A hybrid optimization method for the identification of state-space models is presented in this study. Hybridization is succeeded by combining the advantages of deterministic and stochastic algorithms in a superior scheme that promises faster convergence rate and reliability in the search for the global optimum. The proposed hybrid algorithm is developed by replacing the original stochastic mutation operator of Evolution Strategies (ES) by the Levenberg-Marquardt (LM) quasi-Newton algorithm. This substitution results in a scheme where the entire population cloud is involved in the search for the global optimum, while single individuals are involved in the local search, undertaken by the LM method. The novel hybrid identification framework is assessed through the Monte Carlo analysis of a simulated system and an experimental case study on a shear frame structure. Comparisons to subspace identification, as well as to conventional, self-adaptive ES provide significant indication of superior performance.

• Journal of Microbiology and Biotechnology
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• 제5권5호
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• pp.250-256
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• 1995

The ddh gene encoding meso-diaminopimelate (meso-DAP)-dehydrogenase (DDH) in Brevibacterium lactofermentum was isolated by complementation of the Escherichia coli dapD mutation. It was supposed from subcloning experiments and complementation tests that the evidence for DDH activity appeared in about 2.5 kb Xhol fragmented genome. The 2.5 kb Xhol fragment containing the ddh gene was sequenced, and an open reading frame of 960 bp encoding a polypeptide comprising 320 amino acids was found. Computer analysis indicated that the deduced amino acid of the B. lactofermentum ddh gene showed a high homology with that of the Corynebacterium glutamicum ddh gene.