• Asian-Australasian Journal of Animal Sciences
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• 제17권11호
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• pp.1491-1495
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• 2004

Small Tail Han Sheep has significant characteristics of high prolificacy and non-seasonal ovulatory activity and is an excellent local sheep breed in P. R. China. Recently a novel member of the transforming growth factor $\beta$ (TGF$\beta$) superfamily termed bone morphogenetic protein 15 (BMP15) was shown to be specifically expressed in oocytes and to be essential for female fertility. Therefore, BMP15 is a candidate gene for reproductive performance of Small Tail Han Sheep. The whole genomic nucleotide sequence of BMP15 gene in Small Tail Han Sheep was searched for polymorphisms by PCR-SSCP and direct sequencing, and only one polymorphism was found. The polymorphism was a result of a 3 base pair deletion, which eliminated a single Leu codon (CTT). The allelic frequencies for A (without deletion) and B (with a codon deletion) are 0.73 and 0.27 respectively. The effects of BMP15 genotype on litter size were evaluated using the least squares model. This indicated that there was a significant association between litter size of Small Tail Han Sheep and a deletion in BMP15 gene (p=0.02<0.05). Small Tail Han Sheep ewes with AA and AB genotype produce on average 0.5 and 0.3 more lambs per litter than those ewes with BB genotype.

• Tuberculosis and Respiratory Diseases
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• 제45권5호
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• pp.975-983
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• 1998

연구배경: 3p는 종양억제유전자의 존재가 강력히 의심되는 염색체의 부위로 폐암을 비롯한 여러 암에서 변이가 관찰되고 있다. 본 연구에서는 한국인의 비소세포폐암을 대상으로 3p의 4부위의 microsatellite locus에 대한 PCR-LOH를 시행하여 deletion의 빈도를 관찰하고 그 임상적 의의를 알아보고자 하였다. 방 법: 3p의 3부위의 CA repeat [D3S1228 (3p14.1-14.3), D3S1067 (3p14.3-21.1), D3S1029 (3p21.1-21.3)] 및 1부위의 tetra repeat [D3S1537 (3p22-24.2)] 의 microsatellite를 대상으로 PCR을 시행한 후 polyacrylamide gel에서 전기영동 후 X-ray film에 현상하였다. 정상 폐의 DNA의 PCR product와 폐암 DNA의 PCR product의 band를 비교하여 LOH가 있는 경우를 관찰하였다. 결 과: 62명의 비소세포폐암환자 중 59명에서 informative case이었고 이중 31명 (52.5%)에서 PCR-LOH를 보여 3p의 deletion이 있음을 관찰하였다. 3p deletion의 유무에 따라 환자의 흡연력, 병기 및 병리소견의 차이(squamous cell carcinoma : 55%, adenocarcinoma : 47%)를 관찰할 수 없었다. 또한 3p deletion의 유무는 비소세포폐암환자의 생존기간에도 영향을 주지 못 했으며 squamous cell carcinoma 및 adenocarcinoma로 나눈 군에서도 생존기간에 차이가 없었다. 결 론: 본 연구의 결과로 3p deletion은 한국인의 비소세포폐암 환자에서 많이 관찰되어 중요 역할을 하고 있으나 임상적인 특정과의 연관성은 관찰할 수 없었다.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.10-13
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• 2016

Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.14-18
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• 2016

Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000-10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of epilepsy with profound developmental delay and characteristic phenotypes. A 7-year-and 6-month-old boy experienced afebrile generalized seizure at the age of 5 years and 3 months. He had recurrent febrile seizures since 12 months of age and showed severe global developmental delay, remarkable hypotonia, short stature, and dysmorphic features such as microcephaly; small, low-set ears; dark, straight eyebrows; deep-set eyes; flat nasal bridge; midface hypoplasia; and a small, pointed chin. Previous diagnostic work-up, including conventional chromosomal analysis, revealed no definite causes. However, array-comparative genomic hybridization analysis revealed 1p36 deletion syndrome with a 9.15-Mb copy loss of the 1p36.33-1p36.22 region, and fluorescence in situ hybridization analysis (FISH) confirmed this diagnosis. This case highlights the need to consider detailed chromosomal study for patients with delayed development and epilepsy. Furthermore, 1p36 deletion syndrome should be considered for patients presenting seizure and moderate-to-severe developmental delay, particularly if the patient exhibits dysmorphic features, short stature, and hypotonia.

• Journal of Microbiology and Biotechnology
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• 제27권1호
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• pp.72-76
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• 2017

Detection of exon 19 deletion mutation in the epidermal growth factor receptor (EGFR) gene, which results in increased and sustained phosphorylation of EGFR, is important for diagnosis and treatment guidelines in non-small-cell lung cancer. Here, we have developed a simple and convenient detection system using the interaction between G-quadruplex and fluorophore thioflavin T (ThT) for discriminating EGFR exon 19 deletion mutant DNA from wild type without a label and quencher. In the presence of exon 19 deletion mutant DNA, the probe DNAs annealed to the target sequences were transformed into G-quadruplex structure. Subsequent intercalation of ThT into the G-quadruplex resulted in a light-up fluorescence signal, which reflects the amount of mutant DNA. Due to stark differences in fluorescence intensity between mutant and wild-type DNA, we suggest that the induced G-quadruplex structure in the probe DNA can report the presence of cancer-causing deletion mutant DNAs with high sensitivity.

• 자연과학논문집
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• 제19권1호
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• pp.57-64
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• 2008

바실러스 서브틸리스 fsrA 유전자는 대장균의 ryhB 유전자와 유사한 역할을 하는 유전자로 철 조절 유전자인 fur 유전자의 조절을 받는다. 철의 농도가 높을 때에는 ryhB 유전자의 전사가 fur에 의해 억제되지만 철의 농도가 낮아지면 세포내의 철을 보다 효율적으로 절약하기 위하여 ryhB의 전사 억제가 풀려 ryhB small RNA가 생성되고 이는 철을 함유하는 sdhCDAB (succinate dehydrogenase) 유전자의 발현을 억제한다. 본 연구에서는 바실러스에서 이에 상응하는 유전자인 fur와 fsrA의 결실 균주들을 대상으로 여러 TCA 회로의 유기산을 탄소원에서의 이들 균주들의 성장을 측정하였다. 실험 결과 대장균의 fur/ryhB와 마찬가지로 succinate를 탄소원으로 할 경우 바실러스 fur 결실 균주는 성장이 매우 적었지만 fur/fsrA 결실 균주는 정상적으로 성장하였다. 또한 succinate 이외에 citrate, fumarate의 경우도 succinate와 유사한 결과를 보이는 반면에 malate의 경우 fur나 fur/fsrA의 결실 균주들에서 성장이 큰 차이를 보이지 않았다. 이 결과 TCA 회로에서 succinate 상부에 해당하는 유전자들은 fsrA에 의해 억제되나 succinate 하부에 해당하는 유전자들은 fsrA에 의해 억제되지 않는 것으로 생각된다.

• Animal cells and systems
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• 제5권1호
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• pp.65-69
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• 2001

Obtaining mutant animals is important for studying the function of a particular gene. A chemical mutagenesis was first carried out to generate mutations in C. elegans. In this study, we used ultraviolet-activated 4,5',8-trimethylpsoralen to induce small deletion mutations. A library of mutagenized worms was prepared for recovery of candidate animals and stored at $15^{\circ}C$ during screening instead of being made into a frozen stock library. In order to isolate deletion mutations in target genes, a polymerase chain reaction (PCR)-based screening method was used. As a result, two independent mutants with deletions of approximately 1.0 kb and 1.3 kb were isolated. This modified and improved reverse genetic approach was proven to be effective and practical for isolating mutant animals to study gene function at the organismal level.

• Clinical and Experimental Pediatrics
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• 제59권1호
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• pp.16-23
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• 2016

Purpose: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.

• 한국정보과학회논문지:컴퓨팅의 실제 및 레터
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• 제13권6호
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• pp.422-426
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• 2007

휴대전화, MP3플레이어 및 PMP, USB 메모리 저장장치와 같은 개인용 멀티미디어 및 저장용 이동기기의 사용이 보편화되면서 이동기기에 저장되는 데이타에 대한 안전성이 요구되고 있다. 요구되는 안전성 중 한 가지는 안전한 파일 삭제인데, 이것은 파일의 내용이 완전히 삭제되어 악의적으로 복구될 수 없도록 하는 것이다. 본 논문에서는 이동기기의 저장매체로써 주로 사용되는 플래시 메모리에서 어떻게 안전한 삭제를 할 수 있는지에 대하여 연구한다. 이를 위하여 0으로 덮어쓰기와 가비지 컬렉션을 이용하는 두 가지 안전한 파일 삭제 정책을 고려하였으며, 각 정책들이 플래시 메모리 파일 시스템의 성능에 미치는 영향을 분석하였다. 또한 두 가지 정책들의 장점을 취한 적응적인 파일 삭제 기법을 제안한다. 구체적으로 크기가 작은 파일들에 대해서는 0으로 덮어쓰기 기법을, 크기가 큰 파일들에 대해서는 가비지 컬렉션기법을 적용하였다. 그리고 실제 실험 구현 및 결과를 통해 제안된 기법들이 안전하고 효율적으로 파일을 삭제할 수 있음을 보인다.

• Animal cells and systems
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• 제3권4호
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• pp.393-397
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• 1999

Length variations in human mitochondrial DNA (mtDNA) offer useful markers in the study of female aspects of human population history. One such length variation is a 9-bp deletion in the small noncoding segment located between the COII and Iysine tRNA genes (COII/tRNA/$^{Lys}$ intergenic region) which usually contain two tandemly arranged copies of a 9-bp sequence (ccccctcta) in human mtDNA. The mtDNA 9-bp deletion and polymorphic variants of expanded 9-bp repeat motif in the intergenic COII/tRNA$^{Lys}$ region have been found at varying frequencies among different human ethnic groups. We have examined the length variation of the mtDNA COII/tRNA$^{Lys}$ intergenic region from a total of 813 individuals in east Asian populations. The occurrence of the 9-bp deletion was found to be relatively homogeneous in northeast Asian populations (Chinese, 14.2%; Japanese, 14.3%: Koreans, 15.5%), with the exception of Mongolians (5.1%). In contrast, Indonesians (25.0%) and Vietnamese (23.2%) of the southeast Asian populations appeared to have relatively high frequencies of the 9-bp deletion. We identified the existence of a new expanded 9-bp repeat motif which likely resulted from a slipped mispairing insertion of six more cytosines in the intergenic COII$^{Lys}$ region. It was present at low frequencies in the Korean (2/349) and Japanese populations (2/147). Based on the results of this study, the Korean population may reflect a close genetic affinity with the Japanese and Chinese populations than the others surveyed east Asian populations.