• 과학기술학연구
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• 제3권2호
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• pp.83-104
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• 2003

최근 질병관련 영역 못지않게 유전정보 이용이 눈에 띄게 증가하고 있는 분야가 개인식별 영역이다. 일부 국가에서는 범죄자유전자은행이 구축되어 운영되고 있으며, 군대, 이민국 등에서도 유전정보를 이용하고 있다. 국내에서도 이미 90년대 중반부터 친자확인, 사체확인, 범죄수사에 활용되고 있고 수사기관들은 신원확인을 위한 유전자정보은행을 준비하고 있다. 그런데 질병과 관련된 유전자 검사에 대한 높은 관심과는 달리 유전정보를 개인식별에 이용하는 것에 대해서는 사회적 관심이 별로 높지 않고 법적 윤리적 논의 또한 부족한 상황이다. 그러나 유전정보를 신원확인에 이용하는 과정에서도 개인의 프라이버시 침해, 유전정보의 오남용, 국가의 시민 감시체계확장 등 다양한 문제가 발생할 수 있다. 특히 유전자 감식을 개별적으로 사용하는데 그치지 않고 이를 데이터베이스로 구축할 경우 더욱 다양한 문제들이 발생할 수 있다. 본 논문에서는 그 동안 사회적으로 잘 알려지지 않았던 신원확인 유전자정보은행(DNA databank)의 추진 현황과 사회적 쟁점을 국내 논의 중심으로 살펴보고자 한다. 이를 위해 유전정보의 특징과 수사기관이 추진하고 신원확인 유전자정보은행에 대해서 살펴본다. 이어서 유전자정보은행 구축으로 인해 발생할 수 있는 사회적 문제를 검토해 본 후 논쟁이 건설적으로 이루어지기 위한 방안을 모색한다.

• Translational and Clinical Pharmacology
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• 제25권2호
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• pp.63-66
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• 2017

Allopurinol-induced severe cutaneous adverse reactions (SCARs) such as Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN), and drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome are reportedly associated with the $HLA-B^{\star}58:01$ genotype. Three patients who developed SCARs after allopurinol administration were subjected to HLA-B genotyping and lymphocyte activation test (LAT) to evaluate genetic risk and to detect the causative agent, respectively. All three patients given allopurinol to treat gout were diagnosed with DRESS syndrome. Symptom onset commenced 7-24 days after drug exposure; the patients took allopurinol (100-200 mg/d) for 2-30 days. HLA-B genotyping was performed using a polymerase chain reaction (PCR)-sequence-based typing (SBT) method. All patients had a single $HLA-B^{\star}58:01$ allele: $HLA-B^{\star}13:02/^{\star}58:01$ (a 63-year-old male), $HLA-B^{\star}48:01/^{\star}58:01$ (a 71-year-old female), and $HLA-B^{\star}44:03/^{\star}58:01$ (a 22-year-old male). Only the last patient yielded a positive LAT result, confirming that allopurinol was the causative agent. These findings suggest that patients with $HLA-B^{\star}58:01$ may develop SCARs upon allopurinol administration. Therefore, HLA-B genotyping could be helpful in preventing serious problems attributable to allopurinol treatment, although PCR-SBT HLA-B genotyping is time consuming. A simple genotyping test is required in practice. LAT may help to identify a causative agent.

• Parasites, Hosts and Diseases
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• 제58권6호
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• pp.681-687
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• 2020

Giardia lamblia is a common enteric pathogen associated with diarrheal diseases. There are some reports of G. lamblia infection among different breeds of cattle in recent years worldwide. However, it is yet to know whether cattle in Jiangxi province, southeastern China is infected with G. lamblia. The objectives of the present study were to investigate the prevalence and examine the multilocus genotypes of G. lamblia in cattle in Jiangxi province. A total of 556 fecal samples were collected from 3 cattle breeds (dairy cattle, beef cattle, and buffalo) in Jiangxi province, and the prevalence and genotypes of G. lamblia were determined by the nested PCR amplification of the beta-giardin (bg) gene. A total of 52 samples (9.2%) were positive for G. lamblia. The highest prevalence of G. lamblia was detected in dairy cattle (20.0%), followed by that in beef cattle (6.4%), and meat buffalo (0.9%). Multilocus sequence typing of G. lamblia was performed based on sequences of the bg, triose phosphate isomerase and glutamate dehydrogenase loci, and 22, 42, and 52 samples were amplifiable, respectively, forming 15 MLGs. Moreover, one mixed G. lamblia infection (assemblages A and E) was found in the present study. Altogether, 6 novel assemblage E subtypes (E41*-E46*) were identified for the first time. These results not only provided baseline data for the control of G. lamblia infection in cattle in this southeastern province of China, but also enriched the molecular epidemiological data and genetic diversity of G. lamblia in cattle.

• 한국미생물·생명공학회지
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• 제49권2호
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• pp.239-248
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• 2021

The emergence of multidrug-resistant Acinetobacter baumannii has partly increased treatment failure and patient mortality. Class D β-lactamases is an important mechanism of resistance to beta-lactam antibiotics in this species. This study aimed to investigate the relationship between the presence oxacillinase gene and genetic fingerprints of A. baumannii isolates from the intensive care unit of an Egyptian tertiary care hospital. One hundred and twenty A. baumannii clinical isolates were collected. Multiplex PCR was performed to detect genes encoding oxacillinases (OXA-23, OXA-24, OXA-51, OXA-58 and OXA-143). Molecular typing of all collected isolates was performed using random amplified polymorphic DNA (RAPD)-PCR assay. Out of 120 examined isolates, 92, 88 and 84% were resistant to ertapenem, imipenem and meropenem, respectively. The species-specific, commonly present OXA-51 gene was found in all isolates while OXA-23 showed a high prevalence of 88% of isolates. OXA-24 and OXA-143 genes were detected in 3% and 1% of isolates, respectively. No OXA-58 gene was detected. Five clusters consisting of 19 genotypes were detected using RAPD-PCR. Genotype A was the most prevalent, it was observed in 62% of the isolates followed by genotype B (12%). These results revealed that genotypes A and B are common in the hospital. Results also demonstrate that RAPD-PCR is a rapid and reliable method for studying the clonal similarity among A. baumannii isolated from different clinical specimens.

• Journal of Interdisciplinary Genomics
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• 제6권1호
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• pp.6-13
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• 2024

Background: ABO typing is crucial for ensuring safe blood transfusion and is commonly performed by examining antigen-antibody interactions. Determining ABO blood group can be difficult when dealing with ABO discrepancy and ABO subgroups. ABO genotyping may be necessary to resolve ABO discrepancy. ABO genotyping primarily involves direct sequencing, with the possibility of using other molecular methods. Methods: PCR and direct sequencing of exons 6 and 7 were performed for total 108 samples from June 2010 to December 2019. Also, other molecular methods including cloning sequencing and short tandem repeat analysis were carried out just in case. Sequencing data were compared with allele information of blood group antigen mutation databases. Results: The predominant causal allele among 108 ABO discrepant cases was cis-AB01, with 28 cases. This was followed by rare ABO alleles (B309, B306, A204, Bw29, and Ax01) with 14 cases, and blood chimera with 5 cases. Five new alleles were identified during the investigation. Conclusion: This study reaffirms that cis-AB is the most common cause of inherited ABO discrepancies, and cis-AB01 is the most prevalent cis-AB allele in the Korean population, also in the southeastern region. In addition, we discovered five new alleles and five blood chimeras by adopting sequencing analysis and additional molecular techniques to resolve ABO discrepancies, which provide regional data on rare alleles. This study presents rare and new ABO alleles and blood chimeras identified over a ten-year period at two major university hospitals in Southeastern Korea.

• Tuberculosis and Respiratory Diseases
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• 제54권4호
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• pp.367-377
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• 2003

연구배경 : 결핵균에 감염된 사람 중 약 10%만이 임상적으로 발병하는 것으로 보아 결핵의 발병 감수성에 숙주의 유전적 인자가 작용할 것으로 생각되고 있다. 저자들은 한국인 폐결핵 환자를 대상으로 고해상도 HLA 형별검사를 이용한 대립유전자 수준의 HLA-DR 및 DQ 유전자의 연관성에 대해 분석해 보았다. 방 법 : 이전 결핵 치료력이 없는 결핵 환자 67명(약제감수성군 38명, 다제내성군 29명)과 200명의 정상대조군을 대상으로 하였으며 HLA-DRB1 형별검사는 reverse SSO (sequence specific oligonucleotide)와 PCR-SSCP (single strand conformational polymorphism) 방법으로, DQB1 형별검사는 PCR-RFLP (restriction fragment length polymorphism), PCR-SSCP 및 PCR-SSP (sequence specific primer) 방법으로 시행하였다. 결 과 : 결핵환자군 중 다제내성군에서 대조군에 비해 DRB1*0701과 *08032의 빈도가 약 2배 정도 증가되는 경향을 보였고 이들 대립유전자와 연관된 DQB1*0202와 *0601(15.5% vs 34.5%, p=0.01)이 증가되었다. DQB1*0609는 결핵환자군에서 대조군에 비해 유의하게 증가되었고(4.0% vs 14.9%, p=0.004), 약제감수성군과 다제내성군에서 유사한 정도의 증가를 보였다. 폐병변의 중증도와 HLA의 연관성을 보면 덜 진행된 군(약제감수성군의 경증, 다제내성군의 중등증)에 비해 더 진행된 군(약제감수성군의 중등증+중증, 다제내성군의 중증)에서 DRB1*08032(4.2% vs 32.6%, p=0.007)와 DQB1*0601(12.5% vs 34.9%, p=0.047)이 유의하게 증가되었다. DQB1*0609는 다제내성군에서는 중증군에서, 약제감수성군에서는 경증군에서 대조군에 비해 유의하게 증가되었고 DRB1*0701과 DQB1*0202는 다제내성군의 중등증군에서만 유의하게 증가되어 이들 대립유전자는 폐병변의 중증도와 일정한 연관을 보이지는 않았다. 결 론 : HLA-DRB1*08032 및 DQB1*0601 대립유전자는 한국인에서 다제내성 결핵의 유전적 감수성인자로 생각되며 질환의 중증도와도 연관을 보이는 것으로 나타났다.

• 생명과학회지
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• 제22권5호
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• pp.600-604
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• 2012

인천지역 병 의원에 내원한 급성위장염환자의 대변 검체 총 11,607건을 효소 면역법(ELISA)을 이용하여 group A rotavirus의 계절별 발생 양상을 조사한 결과 2005년부터 2010년간 인천지역에서는 1~2월이 가장 많이 발생하였으나, 기간별로 차이가 존재했다. 또, group A rotavirus 양성 검체 160건에 유전자 분석 결과 VP4는 P8형, VP7는 G1형, G와 P 조합형으로는 G1P8이 가장 많았다. 그러나 이전의 연구와 비교했을 때 연구 지역과 기간에 따라 혈청형과 유전형의 변화가 빈번하였으므로 효율적인 방역을 위해 지속적인 모니터링이 필요하다고 사려된다. 또 이번 연구는 현재 유통 중인 rotavirus 백신의 효율적인 사용의 기초 자료가 될 것이다.

• Parasites, Hosts and Diseases
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• 제51권3호
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• pp.363-367
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• 2013

The prevalence of Toxoplasma gondii infection in birds has epidemiological significance because birds are indeed considered as a good indicator of environmental contamination by T. gondii oocysts. In this study, the prevalence of T. gondii in 313 house sparrows in Lanzhou, northwestern China was assayed by the modified agglutination test (MAT). Antibodies to T. gondii were positive in 39 (12.46%) of 313 samples (MAT titer ${\geq}$ 1:5). Tissues of heart, brain, and lung from the 39 seropositive house sparrows were tested for T. gondii DNA, 11 of which were found to be positive for the T. gondii B1 gene by PCR amplification. These positive DNA samples were typed at 9 genetic markers, including 8 nuclear loci, i.e., SAG1, 5'- and 3'-SAG2, alternative SAG2, SAG3, GRA6, L358, PK1, c22-8 and an apicoplast locus Apico. Of them, 4 isolates were genotyped with complete data for all loci, and 2 genotypes (Type II variants; ToxoDB #3 and a new genotype) were identified. These results showed that there is a potential risk for human infection with T. gondii in this region. To our knowledge, this is the first report of T. gondii seroprevalence in house sparrows in China.

• 대한의생명과학회지
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• 제16권2호
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• pp.75-82
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• 2010

The molecular epidemiological characteristics of methicillin-resistant Staphylococcus aureus (MRSA) isolates have demonstrated their genetic diversity and evolution. A total of 137 strains of MRSA clinical isolates was collected from Korean healthcare facility in 2007. The MRSA clinical isolates were analyzed by molecular typings (SCCmec element and agr locus typing), virule nce factor gene detections {(Panton-Valentine leukocidin (PVL), enterotoxin, exfoliative toxin and toxic shock syndrome toxin-1), and amplified fragment length polymorphism (AFLP)}. The MRSA clinical isolates were classified as SCCmec type II-agr type 1 (2 strains), type II-agr type 2 (79 strains), type III-agr type 1 (24 strains), type III-agr type 2 (2 strains), type IV-agr type 1 (27 strains), type IV-agr type 2 (2 strains), and non-typable (1 strain, agr type 3). Based on SCCmec types, SCCmec type II (95.1%) and III (88.5%) indicated higher multidrug resistance rate than SCCmec type IV (10.3%) (P<0.001). The most common enterotoxin genes were seg (83.8%), sei (83.1%), and sec (80.2%). The tst gene was present in 86 out of 137 (62.8%) MRSA isolates. All MRSA isolates were negative for PVL and exfoliative toxin genes. The combinations of toxin genes were observed in particular SCCmec types; 97.6% of SCCmec type II strains carried sec, seg, sei and tst genes, 73.0% of SCCmec type III strains carried sea gene, and 89.7% of SCCmec type IV strains carried sec, seg and sei genes. Each of the SCCmec types of MRSA isolates had distinct AFLP profile. In conclusion, SCCmec type II, agr type 1 and 2 have demonstrated to be the most common types in Korea, and the results indicated that the virulence factors are closely associated with their molecular types (SCCmec and agr types).

• 한국식품과학회지
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• 제37권4호
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• pp.611-617
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• 2005

본 연구에서는 E. coli. Salmonella, Shigella, Vibrio 등 4속의 주요 식중독유발 그람 음성 세균들을 대상으로 반복성 염기서열인 REP DNA sequence를 응용한 REP-PCR을 실시하였다. 이전의 보고에서 이들 4속의 식중독 유발세균 중 각각 혹은 일부를 대상으로 반복성 염기서열을 이용한 PCR을 적용한 사례는 있지만 그때 적용한 primer, PCR 반응조건 및 전기영동조건 등이 다양하였다. 그러므로 본 연구에서는 이와같은 4속의 세균들에 대하여 최적화된 동일한 primer와 PCR 반응조건 및 전기영동조건을 표준조건으로서 적용하였다. 그 결과로서 모든 4속의 식중독 세균 균주마다 REP-PCR 후 생성되는 fingerprinting pattern에서 속마다 1-3개의 공통적이며 독특한 band가 생성되는 것이 확인되어 이러한 pattern을 이용한 속 수준의 분리 동정과 그와 같은 주요 band들 이외의 부수적인 band들을 고려하여 종 수준까지의 분리도 가능함을 확인하였다. 따라서 본 연구를 통하여 반복적 DNA 염기서열을 이용한 REP-PCR이 주요 식중독 세균의 분리 동정 방법으로 사용될 수 있음을 확인하였다. 또한 본 연구를 통하여 얻은 결과는 더 많은 속(genus)의 식중독세균을 대상으로 한 새로운 분리 동정 방법을 확립하기 위하여 사용될 수 있을 것이다.