• Title/Summary/Keyword: 유전적 소인

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Nevoid Basal Cell Carcinoma Syndrome : A Case Report (기저세포모반증후군 : 증례 보고)

  • Lee, Yoonjung;Park, Jaehong;Choi, Sungchul;Lee, Sooeon;Kim, Kwangchul
    • Journal of the korean academy of Pediatric Dentistry
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    • v.41 no.1
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    • pp.34-39
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    • 2014
  • Nevoid basal cell carcinoma syndrome(NBCCS) is a autosomal dominant disorder, and its major manifestations are multiple basal cell carcinoma, keratocystic odontogenic tumor, rib anomalies, palmer and plantar pits, calcification of the falx cerebri. Keratocystic odontogenic tumor(KCOT) is defined as intraosseous tumor of odontogenic origin with a characteristic lining of parakeratinized stratified squamous epithelium and potential aggressive behavior. We report a case of a 3-year-old patient with nevoid basal cell carcinoma syndrome who initially presented with unilocular keratocystic odontogenic tumor in maxillary canine region. Keratocystic odontogenic tumor was treated by enucleation, and periodic follow-up check will be required for early diagnosis of additional diseases related with this syndrome.

ORAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1: CASE REPORT (제1형 신경섬유종증 환아의 구강내 병소의 치험례)

  • Gwon, Sun-Yeon;Kim, Tae-Wan;Kim, Young-Jin;Kim, Hyun-Jung;Nam, Soon-Hyeun
    • Journal of the korean academy of Pediatric Dentistry
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    • v.35 no.3
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    • pp.556-561
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    • 2008
  • Neurofibromatosis is an autosomal dominant disorder caused by a mutation of a tumor supressor gene on the long arm of chromosome 17. There are two types of neurofibromatosis, and development of neurofibroma is one of clinical diagnostic criteria for neurofibromatosis. The clinical signs of neurofibromatosis include as skin lesions, bone deformities, and tumors involving central nervous system. About 25% of neurofibromatosis involves oral neurofibroma. Radiographically, oral neurofibroma is well-defined unilocular radiolucency, which involves mandibular canal, mandibular foramen and mental foramen. When a lesion is small and approachable, complete resection, including 1cm of marginal connective tissue, is feasible. However, there are studies reporting that the recurrence rate after surgical resection is high and frequent recurrence may even increase the risk of malignant transformation. This case reports a patient with neurofibromatosis type I, accompanying oral neurofibroma, who shows a favorable result after surgical resection of the oral lesion.

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The Relationship between MDR1 Polymorphisms and the Response to Etoposide/Cisplatin Combination Chemotherapy in Small Cell Lung Cancer (소세포폐암에서 Multidrug Resistance-1 유전자의 다형성과 Etoposide-cisplatin 항암화학요법 반응의 관계)

  • Sohn, Ji Woong;Lee, Shin Yup;Lee, Su Jung;Jeon, Hyo-Sung;Lee, Jae Hee;Park, Jae Hyung;Kim, Eun Jin;Kang, Young Mo;Lee, Jae-Tae;Cha, Seung Ick;Kim, Chang Ho;Jung, Tae Hoon;Park, Jae Yong
    • Tuberculosis and Respiratory Diseases
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    • v.58 no.2
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    • pp.135-141
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    • 2005
  • 배경 및 목적 : Multidrug Resistance-1 (MDR1) 유전자는 다약제내성에 관여하는 P-glycoprotein을 암호화한다. MDR1 유전자의 다형성은 P-glycoprotein의 발현과 기능의 차이를 일으켜 항암화학요법 반응에 영향을 미칠 수 있을 것이다. 저자들은 소세포폐암 환자에서 MDR1 유전자의 다형성과 일배체형에 따른 항암화학요법에 대한 반응을 조사하였다. 대상 및 방법 : 경북대학병원에서 병리적으로 소세포폐암으로 진단받고 etoposide-cisplatin 항암화학요법을 받은 54명을 대상으로 하였다. 전혈 5cc에서 DNA를 추출하고 PCR-RFLP법을 통해 MDR1 유전자 엑손 21의 2677G>T 다형성과, 엑손 26의 3435C>T 다형성을 조사하고 다형성과 일배체형에 따른 항암화학요법의 반응을 조사하였다. 결 과 : 2677G>T 유전자형에 따른 항암화학요법의 반응은 유의한 차이가 없었다. 3435 CC 유전자형은 3435 CT+TT 형에 비해 치료 반응율이 유의하게 높았다 (P = 0.025). 유전자형 분석 결과와 일치되게 2677G/3435C 일배체형은 다른 일배체형에 비해 치료반응을 보이는 경우가 유의하게 많았다 (P = 0.015). 결 론 : 소세포폐암에서 MDR1 유전자의 2677G>T와 3435C>T 다형성 및 이들 다형성의 일배체형은 etoposide-cisplatin 항암화학요법의 반응을 예측할 수 있는 지표로 사용될 수 있을 것으로 생각된다.

HYPERACTIVE BEHAVIORAL CHARACTERISTICS BY PARENTAL REPORTS IN ALLERGIC CHILDREN (부모보고에 의한 알레르기 환아의 과잉 행동특성)

  • Choi, Bo-Moon;Lee, Joon-Sung;Park, Nan-Sook
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.4 no.1
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    • pp.98-105
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    • 1993
  • Objective ' The purpose of this study was to investigate the behavioral characteristics of children with allergic disease Method : In a population of 80 children who were registered at a pediatric allergic clinic in Kangnam St Mary's hospital, parents completed a standardized child behavior checklist (CBCL) to evaluate their children Clinical factors associated with allergy were examined in relation to the rated scores of CBCL Results : Allergic children were rated significantly more aggressive and delinquent, and less withdrawned on the CBCL rating when compared to the age- and sex-matched normal control children. Within the allergic population, children who had family history of allergic disease had higher scores of CBCL in hyperactivity and aggressive behavior than the children without family history. Conclusion : The results were discussed with the respect to familial traits of allergy and temperament as risk factors for the emergence of behavior problems in childhood allergy

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Establishment of Genetic Characteristics and Individual Identification System Using Microsatellite loci in Domestic Beef Cattle (초위성체 DNA표지인자를 이용한 국내 육우집단의 품종특성 및 개체식별 체계설정)

  • Kim, Sang-Wook;Jang, Hee-Kyung;Kim, Kwan-Suk;Kim, Jong-Joo;Jeon, Jin-Tae;Yoon, Du-Hak;Kang, Seong-Ho;Jung, Hyo-Il;Cheong, Il-Cheong
    • Journal of Animal Science and Technology
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    • v.51 no.4
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    • pp.273-282
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    • 2009
  • DNA marker information is used to identify or distinguish cattle breeds or individual animal. The purpose of this study was to apply Bovine Genotypes Kit Version 1.1/2.1 to bovine DNA samples (National Institute of Animal Science) taken from Australian / American beef (n=148), Holstein beef (n=170) and Hanwoo cattle (n=177) bred in Jeongeub, Jeonbuk, Korea, so that it could distinguish Hanwoo breed. The Bovine Genotype Kits consist of 16 ISAG MS markers, which were used to build a database of genotypes in each group. Genotyping results were analyzed using MS Tool kit and Phylip program to create phylogenetic tree. The GeneClass 2.0 was used to estimate breed identification. These analyses found that this kit had 100% capacity to distinguish Hanwoo beef, 95.3% capacity to differentiate Australian / American beef and 90% capacity to identify Korean Holstein steer beef. Hence, it is expected that 16 commercial microsatellite markers is useful to categorizegenetic characteristics of Hanwoo breed and also identify Hanwoo individuals and the origin of beef. In particular, it is expected that these markers will be advantageous in discriminating domestic Holstein beef from Australian / Americanbeef.

Identification of a SNP in Cattle HGD Gene with its Effect on Economic Trait in Hanwoo (한우 HGD 유전자내 변이지역과 경제형질간의 연관성 분석)

  • Han, Jung-Min;Kong, Hong Sik
    • Journal of Life Science
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    • v.24 no.11
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    • pp.1168-1173
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    • 2014
  • The homogentisate 1,2-dioxygenase (HGD) gene, which consists of 14 exons and spans approximately 42630bp on Bos taurus autosome 1 (BTA 1), is one of the six enzymes required for catabolism of the aromatic amino acids tyrosine and phenylalanine. It has been reported that BTA1 harbors quantitative trait loci that effect marbling score (MS), carcass weight (CW), and longissimus muscle area (LMA) in cattle. The aim of this study was to identify the single nucleotide polymorphisms (SNPs) in the HGD gene and to analyze their association with economic traits in Korean cattle (Hanwoo). Genetic polymorphisms were screened by direct sequencing, which detected 10 SNPs (T11187C, T11301A, T11398G, G29833A, G34256T, G34257C, T34284C, T42333G, T42348C, and T42468C). Six polymorphic sites were selected for genotyping, and economic traits were analyzed using a general linear model in Korean cattle (n=90). The observed genotype frequencies for G34256T were 0.5843(GG), 0.3708(GT), and 0.0449(TT). In addition, 0.3596(GG), 0.3708(GC), and 0.2697(CC) were observed for the G34257C mutation. Statistical association analysis revealed that G34256T polymorphisms were significantly associated with MS, and G34257C polymorphisms were significantly associated with MS and LMA (p<0.05). Further study is needed in order to use the genetic variant as a marker for marker-assisted selection in Korean cattle.

Analysis of Potential Toxigenicity and Phylogeny using Target Genes in Aphanizomenon flos-aquae (Cyanophyceae) strains isolated from the Nakdong River (낙동강에서 분리된 Aphanizomenon flos-aquae (Cyanophyceae) 균주의 목표 유전자를 이용한 잠재적 독소 생성능 및 계통학적 분석)

  • Ryu, Hui-Seong;An, Sung-Min;Lim, Chang-Kun;Shin, Ra-Young;Park, Jong-Guen;Lee, Jung-Ho
    • Korean Journal of Ecology and Environment
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    • v.50 no.1
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    • pp.137-147
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    • 2017
  • The identity of toxin producers remains only hypothesis unless there were identified by strain isolation and analytical confirmation of both the cyanotoxin production and the genetic identity of the monoculture. The purposes of this study were to identify a morphologic and phylogenetic classification in Aphanizomenon flos-aquae strains isolated from the Nakdong River and to investigate the potential ability of the strains to produce toxins such as saxitoxin and cylindrospermopsin using target genes. The 16S rRNA and sxtA, sxtI, cyrA, cyrJ genes were analyzed on two strains (DGUC001, DGUC003) isolated from the Nakdong River. Morphological features of the strains were observed a shape of aggregated trichomes in parallel fascicles which can reach up to macroscopic size and a hyaline terminal cell without aerotope. In addition, the 16S rRNA phylogenetic analyses showed that the strains were identified as the same species with high genetic similarity of 98.4% and grouped within a monospecific andsupported cluster I of Aphanizomenon flos-aquae selected from GenBank of the NCBI. The cyrA and cyrJ genes encoding for the cylindrospermopsin-biosynthesis were not detected in the present study. The sxtA gene was in detected both the two strains, whereas the sxtI gene which had been suggested as a suitable molecular marker to detect saxitoxin-producing cyanobacteria was not found both the strains. Thus, the two strains isolated from Nakdong River were identified as the same species of Aphanizomenon flos-aquae Ralfs ex Bornet et Flahault 1888, the two strains were confirmed as potential non-producing strains of the saxitoxin and cylindrospermopsin.

Species Composition and Distribution of Native Korean Conifers (한반도에 자생하는 침엽수의 종 구성과 분포)

  • Kong Woo-Seok
    • Journal of the Korean Geographical Society
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    • v.39 no.4
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    • pp.528-543
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    • 2004
  • The biogeographical approach on the species composition, distributional range, and life form of native Korean conifers suggests that the Korean Peninsula harbors 4 families 10 genera 30 species. Early-evolved conifers maintain high species diversity and broad distribution. During the glacial periods, the ranges of cold-tolerant conifers expanded, on the other hand, those of warmth-tolerant ones reduced. Presence of endemic subalpine conifers might be the result of long-term isolation of conifers on high mountains. Horizontal and vertical ranges of native Korean conifers are classified into alpine, subalpine, montane, coastal, insular and disjunctive types, and then subdivided into twelve sub-types. Typical life form of native Korean conifers is evergreen tree, blooms in spring, and fruits ripe in autumn or following autumn. Oval and elliptical seeds with wing might be beneficial for their dispersal. Further works on the migration, dispersal, genetics, ecology of native Korean conifers are required for the better understanding of the biogeography of conifers.

Cloning and Characterization of a Novel Carboxylesterase Gene from Cow Rumen Metagenomic Library (소 반추위 메타게놈에서 새로운 carboxylesterase 유전자 클로닝 및 유전산물의 특성)

  • Asraful Islam, Shah Md.;Kim, Min-Keun;Renukaradhya, K. Math;Srinivasa, Reddy R.N.;Kim, Eun-Jin;Kim, Jung-Ho;Kim, Hoon;Yun, Han-Dae
    • Journal of Life Science
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    • v.20 no.9
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    • pp.1306-1313
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    • 2010
  • The gene encoding esterase enzyme was cloned from a metagenomic library of cow rumen bacteria. The esterase gene (est1R) was 2,465 bp in length, encoding a protein of 366 amino acid residues, and the molecular weight of the enzyme was 61,166 Da. Est1R of rumen cosmid library shared 5.9% amino acid identity with Est1R (P37967) of PNB carboxylesterase, 6.1% with Est1R (1EEAA) of acetylcholinesterase and 6.1% with Est1R (1H23A) of chain A. BlastP in NCBI database analysis of Est1R revealed that it was not homologous to previous known lipases and esterases. Est1R showed optimum activity at pH 7.0 and $40^{\circ}C$. On the other hand, the enzyme was found to be most active without organic solvent, followed by 95% activity with methanol, and the enzyme activity was highly affected by hexane (lost 51% activity). Therefore, the novel esterase gene est1R is likely obtainable from cow rumen metagenome and may be utilized for industrial purposes.

Status and Prospect of Lactic Acid Bacteria with Antibiotic Resistance (항생제 내성을 가진 유산균의 현황과 전망)

  • Chon, Jung-Whan;Seo, Kun-Ho;Bae, Dongryeoul;Jeong, Dongkwan;Song, Kwang-Young
    • Journal of Dairy Science and Biotechnology
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    • v.38 no.2
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    • pp.70-88
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    • 2020
  • Lactic acid bacteria (LAB) form an essential part of the intestinal microbiota of the human body and possess the ability to stabilize the intestinal microbiota, strengthen immunity, and promote digestion as well as intestinal synthesis of vitamins, amino acids, and proteins. Hence, LAB are currently widely used in various products. However, due to the indiscriminate overuse of antibiotics in humans and livestock, bacterial resistance to antibiotics has been increasing rapidly, which has led to serious problems in the treatment of bacterial infections. Additionally, several reports have revealed that antibiotic-resistant LAB may infect people whose immune systems are not fully developed or whose immune systems are temporarily weakened. Therefore, it is imperative to consider the possibility of antibiotic-resistant LAB causing diseases in humans and animals, investigate the mechanism of action between antibiotics and LAB, and determine the relevant regulations for the safe use of LAB.