• 대한생식의학회:학술대회논문집
• /
• 대한불임학회 2003년도 제45차 추계학술대회
• /
• pp.21-30
• /
• 2003

As a result of the technological advance provided by intracytoplasmic sperm injection (ICSI) in 1992, the evaluation and treatment of the infertile male has changed significantly. Many men who were previously thought to be irreversibly infertile have the potential to initiate their own biologic pregnancy. However, not all men having impaired semen parameter are ideal candidates for ICSI for numerous reasons including a lack of addressing the underlying problem causing the male infertility, unknown genetic consequences, and cost-effectiveness issues. In this era of ICSI, the fundamental approach to the male with suspected subfertility is unchanged and is based on a history, physical examination, and focused laboratory testing. The urologist should approach the patient with an intent to identify remediable causes of subfertility given the specific clinical situation. For instance, should a gentleman have his varicocele repaired or vasectomy reversed, or should he proceed directly with ICSI? If no factors can be improved in a timely manner, then ICSI should be considered using the available sperm. Examples of recent advances include the diagnosis and treatment of ejaculatory duct obstruction, indications and techniques for performing testis biopsy, and technique for sperm harvesting. In addition, potential genetic causes of male subfertility should be diagnosed and discussed with the patient. Cystic fibrosis gene mutation, karyotype abnormallities, and Y-chromosome microdeletions all have recently been identified as causative for male infertility in otherwise phenotypically normal men. With recently evolved diagnostic and therapeutic techniques now available for the infertile couple, even the most severe male factor problems in patients previously considered irreversibly infertile are now potentially treatable. The physician should be aware of the availability and limitations of these new and exciting reproductive technologies because they will allow him to provide timely and more effective therapy for the infertile couple. An understanding of these advances by all physicians is important as we progress into the $21^{st}$ century

• 한국발생생물학회지:발생과생식
• /
• 제14권3호
• /
• pp.155-162
• /
• 2010

The trophectoderm is one of the earliest cell types to differentiate in the forming placenta. It is an important for the initial implantation and placentation during pregnancy. Trophoblast stem cells (TBSCs) develop from the blastocyst and are maintained by signals emanating from the inner cell mass. However, several limitations including rarity and difficulty in isolation of trophoblast stem cells derived from blastocyst still exist. To establish a model for trophoblast differentiation, we isolated TBSCs from human term placenta ($\geq$38 weeks) and characterized. Cell cycle was analyzed by measuring DNA content by FACS analysis and phenotype of TBSCs was characterized by RT-PCR and FACS analysis. TBSCs have expressed various markers such as self-renewal markers (Nanog, Sox2), three germ layer markers (hNF68, alpha-cardiac actin, hAFP), trophoblast specific markers (CDX-2, CK7, HLA-G), and TERT gene. In FACS analysis, TBSCs isolated from term placenta showed that the majority of cells expressed CD13, CD44, CD90, CD95, CD105, HLA-ABC, cytokeratin 7, and HLA-G. Testing for CD31, CD34, CD45, CD71, vimentin and HLA-DR were negative. TBSCs were shown to decrease the growth rate when cultured in conditioned medium without FGF4/heparin as well as the morphology was changed to a characteristic giant cell with a large cytoplasm and nucleus. In invasion assay, TBSCs isolated from term placenta showed invasion activities in in vivo using nude mice and in vitro Matrigel system. Taken together, these results support that an isolation potential of TBSCs from term placenta as well as a good source for understanding of the infertility mechanism.

• 미생물학회지
• /
• 제47권4호
• /
• pp.381-385
• /
• 2011

Methicillin-resistant Staphylococcus aureus (MRSA)는 화농성 질환, 균혈증을 유발하고 병원내 감염의 주요 원인균으로 알려져 있다. 병원에서의 MRSA 분리율은 점차 증가하여 80% 이상으로 보고 되고 있으며 Methicillin 뿐만 아니라 다른 항균제에도 내성을 나타냄으로 치료를 위한 항균제 사용에 제한을 받고 있다. 이에 본 연구에서는 MRSA의 정확한 판정을 통해 항생제 남용을 막고자 대부분의 병원에서 사용하는 항균제 감수성 검사법과 경제적인 면으로 인해 병원내에서 많이 사용되고 있지 않지만 정확도가 높은 mecA 유전자 검출법을 서로 비교하였다. 그 결과 대조군인 Methicillin-susceptible Staphylococcus aureus와 실험군 MRSA 20 균주를 대상으로 항균제 감수성 검사법과 mecA 유전자 PCR 검출법을 실시한 결과 MRSA 20 균주는 Oxacillin과 Cefoxitin에 모두 내성을 나타냈으나 mecA 유전자 검출에서는 20 개 중 17 개에서만 유전자가 검출되어 염기서열분석 결과 mecA 유전자임을 확인하였다. 이런 결과로 보아 mecA(-) 3 균주는 mecA 유전자의 변이로 추측할 수 있기에 임상에서의 MRSA의 판정은 항균제 디스크법과 mecA 유전자 PCR 검출법을 동시에 사용함으로 정확한 MRSA 진단에 도움을 주고자 한다.

• Journal of Genetic Medicine
• /
• 제17권1호
• /
• pp.39-42
• /
• 2020

The Senior-Loken syndrome was first described in 1961 as an oculo-renal disease consisting of familial juvenile nephronophthisis and Leber congenital amaurosis. It is a rare autosomal recessive disorder with a prevalence of 1:1,000,000 caused by mutations in nine genes (NPHP 1-8 and NPHP 10). Ocular manifestations (e.g., photophobia, nystagmus, and extreme hyperopia) occur within the first few years of life while renal manifestations (e.g., formation of multiple cysts impairing kidney function and end-stage renal disease) appear in late childhood to adolescence. Here, we report a case of a Filipino male presenting with rotatory nystagmus and progressive deterioration of vision since childhood. He had congenital amaurosis and juvenile nephronophthisis that progressed to end stage renal disease by age 19. All laboratory and imaging findings were consistent with chronic kidney disease. Molecular genetic testing of ciliopathy-related genes was performed revealing a homozygous mutation in exon 11 of the IQCB1/NPHP5 gene, c.1090C>T (p.Arg364^⁎). This sequence change created a premature translational stop signal resulting in a truncated protein product, nephrocystin-5 and its consequent loss of function. His symptoms eventually improved with initiation dialysis. The prognosis of Senior-Loken syndrome remains dismal and a high index of suspicion, early diagnosis and timely intervention of renal complications are warranted.

• Journal of Genetic Medicine
• /
• 제17권1호
• /
• pp.27-33
• /
• 2020

Purpose: Duchenne muscular dystrophy (DMD) is the most common lethal muscular dystrophy and is caused by the genetic variants of DMD gene. Because DMD is X-linked recessive and shows familial aggregates, prenatal diagnosis is an important role in the management of DMD family. We present our experience of prenatal molecular diagnosis and carrier detection based on multiplex polymerase chain reaction (PCR), multiplex ligation-dependent probe amplification (MLPA), and linkage analysis. Materials and Methods: During study period, 34 cases of prenatal diagnosis and 21 cases of carrier detection were performed at the Seoul National University Hospital. Multiplex PCR and MLPA was used to detect the exon deletions or duplications. When the DMD pathogenic variant in the affected males is unknown and no DMD pathogenic variant is detected in atrisk females, linkage analysis was used. Results: The prenatal molecular diagnosis was offered to 34 fetuses. Twenty-five fetuses were male and 6 fetuses (24.0%) were affected. Remaining cases had no pathogenic mutation. We had 24 (80.0%) cases of known proband results; exon deletion mutation in 19 (79.2%) cases and duplication in 5 (20.8%) cases. Linkage analysis was performed in 4 cases in which 2 cases (50.0%) were found to be affected. In the carrier testing, among 21 cases including 15 cases of mother and 6 cases of female relative, 9 (42.9%) cases showed positive results and 12 (57.1%) cases showed negative results. Conclusion: Prenatal molecular diagnosis and carrier detection of DMD are effective and feasible. They are useful in genetic counseling for DMD families.

• 농업과학연구
• /
• 제46권1호
• /
• pp.113-124
• /
• 2019

Insect-resistant transgenic (Bt-9) rice was generated by inserting mCry1Ac1, a modified gene from the soil bacterium Bacillus thuringiensis, into the genome of a conventional variety of rice (Ilmi). With regard to potential problems such as safety, an evaluation of non-target organisms is necessary as an essential element of an environmental risk assessment of genetically modified (GM) crops. We studied the effects of the Bt-9 rice on the survival of cantor Daphnia magna, a commonly used model organism in ecotoxicological studies. D. magna fed on the Bt-transgenic rice (Bt-9) and its near non-GM counterparts (Ilmi) grown in the same environment (a 100% ground rice suspension). The Bt-9 rice was confirmed to have the inserted T-DNA and protein expression evident by the PCR and ELISA analyses. The feeding study showed a similar cumulative immobility and abnormal response of the Daphnia magna between the Bt-9 rice and Ilmi. Additionally, the 48 h-EC50 values of the Bt-9 and Ilmi rice were 4,400 mg/L (95% confidence limits: 3861.01 - 5015.01 mg/L) and 5,564 mg/L (95% confidence limits: 4780.03 - 6476.93 mg/L), respectively. The rice NOEC (No observed effect concentration) value for D. magna was suggested to be 1,620 mg/L. We conclude that the tested Bt-9 and Ilmi have a similar cumulative immobility for D. magna, a widely used model organism, and the growth of Bt-9 did not affect non-target insects.

• Clinical and Experimental Pediatrics
• /
• 제62권2호
• /
• pp.55-61
• /
• 2019

Purpose: Myotonic dystrophy, also known as dystrophia myotonica (DM), is an autosomal dominant disorder with 2 genetically distinct forms. DM type 1 (DM1) is the more common form and is caused by abnormal expansion of cytosine/thymine/guanine (CTG) repeats in the DM protein kinase (DMPK ) gene. Our study aimed to determine whether the age of onset is correlated with CTG repeat length in a population of pediatric patients with DM1. Methods: We retrospectively identified 30 pediatric patients with DM1 that underwent DMPK testing, of which the clinical data of 17 was sufficient. The cohort was divided into 2 subgroups based on the clinical phenotype (congenital-onset vs. late-onset) and number of CTG repeats (<1,000 vs. ${\geq}1,000$). Results: We found no significant difference between the age of onset and CTG repeat length in our pediatric patient population. Based on clinical subgrouping, we found that the congenital-onset subgroup was statistically different with respect to several variables, including prematurity, rate of admission to neonatal intensive care unit, need for respiratory support at birth, hypotonia, dysphagia, ventilator dependence, and functional status on last visit, compared to the late-onset subgroup. Based on genetic subgrouping, we found a single variable (poor feeding in neonate) that was significantly different in the large CTG subgroup than that in the small CTG subgroup. Conclusion: Clinical variables exhibiting statistically significant differences between the subgroups should be focused on prognosis and designing tailored management approaches for the patients; our findings will contribute to achieve this important goal for treating patients with DM1.

• 한국식품과학회지
• /
• 제51권3호
• /
• pp.295-299
• /
• 2019

본 연구에서는 형태학적으로 판별이 어려운 옥돔과 옥두어의 종 특이 primer를 개발, 검증한 후 모니터링을 통해 위변조 된 옥돔의 유통을 예방하고자 하였다. 옥돔과 옥두어 염기서열은 clustal omega 프로그램을 이용하여 정리하였고, primer3 프로그램을 이용하여 primer를 설계하였다. Multiplex PCR 결과는 옥돔과 옥두어에 대한 종 특이적 증폭이 확인되었고, PCR 반응을 확인하기 위한 공통 유전자에 대한 증폭이 확인되었다. 옥돔을 288 bp, 옥두어를 159 bp, 공통 유전자를 502 bp로 증폭되어 각각 PCR product 사이에 100 bp 이상 차이가 나타나 정확하게 판별이 가능하였다. Multiplex PCR 민감도 실험결과 옥돔 primer가 1 ng, 옥두어 primer가 1 ng, 공통 유전자 primer가 1 ng까지 밴드가 확인되었다. 모니터링 실험결과, 옥돔 38건, 옥두어 13건으로 판정되어 시료의 어종과 실험결과가 100% 일치함을 확인하였고, 위변조 사례는 나타나지 않았다. 본 실험에서 개발된 multiplex PCR 방법은 특이도와 민감도가 확보되었고 모니터링을 통해 유통, 판매되고 있는 옥돔과 옥두어의 판별에 적합함을 확인하였다.

• 식품과학과 산업
• /
• 제54권4호
• /
• pp.293-300
• /
• 2021

식품안전사고는 2009년 이후 해마다 5천건 이상 매년 2%씩 증가하고 있는 추세이며 환경오염 및 농수산물 원산지표시 위반 등이 증가하고 있어 먹거리 안전에 대한 국민 불안은 가중되고 있는 실정이다. 식품안전사고를 예방할 수 있는 가장 좋은 방법은 빨리 검사하는 방법이라고 대부분 알고 있지만 식품생산 및 유통 현장에 분석 비전문가 수준에서 활용할 수 있는 검사기술이 부족한 실정이다. 최근 현장진단기술 중 시료에서 검사까지 가능한 STA 기술을 중심으로 유전자 기반 식중독균을 검사하는 방법에 대해 소개하였다. 사람이 아닌 원격지 무인으로 식품위해인자를 직접적으로 검사하여 식품안전정보를 위변조 없이 생성할 수 있다면 현재의 빅데이터와 인공지능 기술로부터 보다 정확한 위험을 예측할 수 있어 오염원을 관리할 수 있다. 이러한 정보 처리는 현재 클라우드 기술을 이용하여 스마트폰에서도 활용 가능한 수준이기 때문에 영세사업장이나 공공 단체급식 등에 활용 가능할 것으로 판단된다.

• Journal of Forest and Environmental Science
• /
• 제38권2호
• /
• pp.102-109
• /
• 2022

This study was conducted to test the significant difference of fertility variation among families and to select superior families for acorn production in the breeding seedling seed orchards (BSSOs) of Quercus acuta and Quercus glauca. The seed orchards were located in Jeju island and established by seedlings raised from selected parents for genetic testing in 2006. In the spring of 2021, the numbers of female and male flower were counted from 5 to 10 individuals per family in the BSSOs. To test statistical significance of which parameter is not satisfied through the normality test, we used a nonparametric analysis. Correlation analysis was performed to quantify the association between female and male flower production. As the results, the significant difference of flower production among families was found in both seed orchards. The averages of female flower production were 65.3 and 181.9 in Q. acuta and Q. glauca. The positive Spearman's rank correlation was existed between male and female flower production. Broad-sense heritability on female and male flower production were 0.191 and 0.147 in Q. acuta, and 0.285 and 0.068 in Q. glauca, respectively. Sexual asymmetry (e.g., maleness index) between female and male, and contribution variation among families (e.g., parental balance) were analyzed to find reasonable alternatives in the management of seed orchards. Effective population size of seed crops was predicted as a concept of status number. Loss of gene diversity (accumulation of group coancestry) would not be alarming in the BSSOs. Our results would be helpful to select breeding materials for establishing new seed orchards and to supply genetically improved seeds of evergreen oaks, which is one of the backbones of the strategy of carbon sink in the 2050 Carbon Neutrality of Korea Forest Service.