• 한국작물학회:학술대회논문집
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• 한국작물학회 2017년도 추계학술대회
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• pp.247-247
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• 2017

• 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.

• 한국축산식품학회지
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• 제31권4호
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• pp.537-542
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• 2011

Biological or physiological genes that regulate metabolism and energy partitioning have the potential to influence economically important traits such as carcass and meat quality traits in beef cattle. The neuropeptide Y (NPY) functions as a central appetite stimulator and plays a major role in feed intake and energy-balance control. Therefore, the NPY gene is an excellent biological and physiological candidate gene for body weight, feeding, fatness or growth related traits in beef cattle. The objective of this study was to identify single nucleotide polymorphisms (SNPs) in the NPY gene and to evaluate the association of NPY SNP markers with carcass and meat quality traits in Korean cattle. The genomic region (711 bp) including intron 2 of NPY gene was amplified and sequenced, and five SNPs, g.4389 Del(C), g.4371Del(C), g.4271T>C, g.1899A>G and g.1517A>C, were identified. The PCR-RFLP method was then developed to genotype the individuals examined. The g.4271T>C SNP was significantly associated with M. Longissimus dori area (LDA) value (p<0.027). Animals with the TT ($78.144{\pm}0.950\;cm^2$) genotype had higher LDA than those with the CC ($72.266{\pm}2.039\;cm^2$), and animals with TC genotype showed intermediate value. This SNP genotype also showed a highly significant additive genetic effect for the LDA (p<0.01). No significant associations, however, was detected between any of the SNP genotype and other carcass traits measured in this study. In conclusion, SNP genotype of the NPY gene may be used as DNA markers to select animals that have a higher meat yield.

• 한국육종학회지
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• 제50권4호
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• pp.396-405
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• 2018

본 연구에서는 dVB 특이적인 202개 InDel 마커를 이용하여 강원도에서 육성된 콩 품종의 바코드 데이터베이스 구축 및 유전분석을 수행하였다. 강원도에서 육성된 품종의 202개 InDel의 다형성을 기존의 147 품종과 비교한 결과 강원도 품종이 명확하게 구분되었다. 이는 식량원에서 개발된 콩 품종 인식 시스템이 강원도 품종의 보급종 체계에서 품종의 균일성과 안정성 평가에 적용 가능함을 나타낸다. 153개 품종의 유전형을 이용하여 집단구조를 분석한 결과, '흑청', '호반', '청아'는 subgroup 1으로, '기찬', '대왕', '햇살', '강일'은 admixture로 구분되었다. 강원도 재래종의 숙기를 앞당기 위하여 subgroup 3의 유전 영역이 도입되었으며, 강원도의 특이 환경 및 기후변화 대응에는 subgroup 4가 주로 이용되었음이 유전분석집단에서 확인되었다. 특히, 다양한 소비자의 욕구를 충족과 함께 지역 환경에 적응성을 높이기 위해서 신품종 육성에 유전구조가 다른 다양한 재래종(혹은 품종)의 유전 영역이 지속적으로 도입되어 admixture 집단이 증가한 것으로 판단된다. 결론적으로 강원도 품종의 바코드 데이터베이스 구축은 품종 식별 정확성과 효율성을 향상시켜 품종의 권리 보호와 함께 종자산업 경쟁력을 보다 높일 수 있을 것으로 기대된다. 향후 dVB에 연관된 양적/질적 형질에 대한 추가 연구와 함께 202개 InDel 마커를 이용하여 실험실 수준에서 교배모부본의 잠재적 가능성을 평가할 수 있기 때문에 품종 육성의 효율을 더욱 높일 수 있을 것이다.

• Journal of Microbiology and Biotechnology
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• 제30권5호
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• pp.662-667
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• 2020

Epidermal growth factor receptor (EGFR) mutations are not only genetic markers for diagnosis but also biomarkers of clinical-response against tyrosine kinase inhibitors (TKIs) in non-small cell lung cancer (NSCLC). Among the EGFR mutations, the in-frame deletion mutation in EGFR exon 19 kinase domain (EGFR exon 19-del) is the most frequent mutation, accounting for about 45% of EGFR mutations in NSCLCs. Development of sensitive method for detecting the EGFR mutation is highly required to make a better screening for drug-response in the treatment of NSCLC patients. Here, we developed a fluorometric tandem gene amplification assay for sensitive detection of low-abundance EGFR exon 19-del mutant genomic DNA. The method consists of pre-amplification with PCR, thermal cycling of ligation by Taq ligase, and subsequent rolling circle amplification (RCA). PCR-amplified DNA from genomic DNA samples was used as splint DNA to conjugate both ends of linear padlock DNA, generating circular padlock DNA template for RCA. Long stretches of ssDNA harboring multiple copies of G-quadruplex structure was generated in RCA and detected by thioflavin T (ThT) fluorescence, which is specifically intercalated into the G-quadruplex, emitting strong fluorescence. Sensitivity of tandem gene amplification assay for detection of the EGFR exon 19-del from gDNA was as low as 3.6 pg, and mutant gDNA present in the pooled normal plasma was readily detected as low as 1% fraction. Hence, fluorometric detection of low-abundance EGFR exon 19 deletion mutation using tandem gene amplification may be applicable to clinical diagnosis of NSCLC patients with appropriate TKI treatment.

• Asian Pacific Journal of Cancer Prevention
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• 제16권16호
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• pp.7071-7076
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• 2015

Epidermal growth factor receptor (EGFR) is one of the targeted molecular markers in many cancers including lung malignancies. Gefitinib and erlotinib are two available therapeutics that act as specific inhibitors of tyrosine kinase (TK) domains. We performed a case-control study with formalin-fixed paraffin-embedded tissue blocks (FFPE) from tissue biopsies of 167 non-small cell lung carcinoma (NSCLC) patients and 167 healthy controls. The tissue biopsies were studied for mutations in exons 18-21 of the EGFR gene. This study was performed using PCR followed by DNA sequencing. We identified 63 mutations in 33 men and 30 women. Mutations were detected in exon 19 (delE746-A750, delE746-T751, delL747-E749, delL747-P753, delL747-T751) in 32 patients, exon 20 (S786I, T790M) in 16, and exon 21 (L858R) in 15. No mutations were observed in exon 18. The 63 patients with EFGR mutations were considered for upfront therapy with oral tyrosine kinase inhibitor (TKI) drugs and have responded well to therapy over the last 15 months. The control patients had no mutations in any of the exons studied. The advent of EGFR TKI therapy has provided a powerful new treatment modality for patients diagnosed with NSCLC. The study emphasizes the frequency of EGFR mutations in NSCLC patients and its role as an important predictive marker for response to oral TKI in the south Indian population.

• 한국유기농업학회지
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• 제26권4호
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• pp.745-757
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• 2018

We analyzed the nuclear ribosomal internal transcribed spacer (ITS) sequence of common buckwheat, Fagopyrum esculentum and tartary buckwheat, F. tataricum. The diversity of the nucleotides and haplotypes, Tajima's D, and Fu's Fs was analyzed and compared among the varieties of common buckwheat and tartary buckwheat. The diversity of nucleotides and haplotypes indicated that the buckwheat populations had undergone rapid population expansion but D and Fs did not support their expansion statistically. The phylogenetic analysis of ITS sequences did not clearly establish the phylogenetic relationships between the varieties of common buckwheat. The In/Del sequence of ITS-1 region could, therefore, be used as a DNA marker to distinguish raw or manufactured products derived from common buckwheat and tartary buckwheat.

• 정보처리학회논문지B
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• 제9B권1호
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• pp.129-138
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• 2002

본 논문에서는 모션캡쳐를 위해 컬러 스테레오 카메라를 이용한 거리 측정 알고리즘을 제안하였다. 현실공간의 연기자 각 관절 부위에 컬러마커를 부탁시키고 이를 컬러 스테레오 카메라를 이용해 촬영한 후, 본 논문에서 제안한 컬러 매칭방법과 컬러 영역중심의 분석방법에 의해 카메라로부터 마커가지의 거리를 계산한다. 스테레오 영상에서 마커의 컬러영역을 추출하기 위해 국부지역내의 각 픽셀의 RGB(red, green, blue) 컬러 정보를 CIE(Commission Internationale de1'Eclairage) 컬러 공간으로 변환시켜 컬러의 파장을 계산하고, 국부지역의 우월 파장이 마커의 컬러파장과 일치하는지를 검색한다. 가상공간에서의 캐릭터의 움직임은 시간에 따른 마커의 위치 변화정보를 처리하는 프로그램에 의하여 제어된다.

• Ocean and Polar Research
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• 제26권3호
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• pp.531-537
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• 2004

In this study we discuss some problems that emerged from paleolimnological and paleontological investigations of terrestrial Holocene ecosystems on King George Island (South Shetland Islands) conducted by an Argentine-Polish research group. Biological and geochemical markers commonly used in standard analytical procedures are considered insufficient in tracing overlapping records of past environmental changes preserved in peat banks, lake sediments and ornithogenic remnants. Records that might be explained by predictable natural events (related to glacio-isostatic uplift of land), roughly predictable events (ecological succession), or unpredictable events (volcanic eruptions or accidental destruction of aquatic moss) may overlap or interfinger one with another providing that signals of regional and/or global climatic changes, are hardly identifiable. A more sophisticated and more selective methods are recommended to do discrimination between records of local and regional/golbal processes in studies on Holocene climatic history of the South Shetland Islands.