• 한국균학회지
• /
• 제26권2호통권85호
• /
• pp.135-143
• /
• 1998

CHEF (Contour-Clamped homogeneous electric field) gel electrophoresis를 이용하여 Fusarium section Sporotrichiella, Liseola, Gibbosum, Discolor와 Martiella에 속하는 10종의 electrophoretic karyotype을 비교하였다. Intact chromosomal DNA는 균류의 원형질체로부터 추출하였으며, 크기에 따라 다양한 조건을 주어 DNA 분자를 분리시켰다. Fusarium속에 속하는 종의 염색체는 0.78Mb에서 7.20Mb의 크기를 가진 염색체가 종에 따라 $5{\sim}13$개였다. 각 종의 total genome 크기는 18.32Mb에서 48.20Mb였다. Electrophoretic karyotype을 비교한 후 F. oxysporum formae speciales lilii로부터 무작위로 선택하여 만든 genomic DNA를 probe로 하여 Southern hybridization 분석을 수행하였다.

• Journal of Genetic Medicine
• /
• 제15권1호
• /
• pp.43-47
• /
• 2018

Partial hydatidiform mole and coexisting fetus is a rare entity with antecedent high risk of maternal and fetal complications, and risk of persistent trophoblastic disease in later life. Here, we report a case of twin pregnancy with live fetus identified as 45,X and normal placenta and another partial mole. Ultrasound scan at 10 weeks showed a hydrops fetus with a focal area of multicystic placenta. The patient underwent chorionic villus sampling and amniocentesis for chromosomal analysis, and the result was 45,X. Based on these finding, the patient then underwent induced abortion. Pathological examination (immunohistochemical staining) of the placenta confirmed the partial mole. This report suggests that careful prenatal ultrasonography and appropriate karyotyping in a molar pregnancy and coexisting fetus enable early diagnosis and may be beneficial for prognosis.

• Clinical and Experimental Pediatrics
• /
• 제53권3호
• /
• pp.273-285
• /
• 2010

Completion of the human genome project has allowed a deeper understanding of molecular pathophysiology and has provided invaluable genomic information for the diagnosis of genetic disorders. Advent of new technologies has lead to an explosion in genetic testing. However, this overwhelming stream of genetic information often misleads physicians and patients into a misguided faith in the power of genetic testing. Moreover, genetic testing raises a number of ethical, legal, and social issues. Diagnostic genetic tests can be divided into three primary but overlapping categories: cytogenetic studies (including routine karyotyping, high-resolution karyotyping, and fluorescent in situ hybridization studies), biochemical tests, and DNA-based diagnostic tests. DNA-based testing has grown rapidly over the past decade and includes preandpostnatal testing for the diagnosis of genetic diseases, testing for carriers of genetic diseases, genetic testing for susceptibility to common non-genetic diseases, and screening for common genetic diseases in a particular population. Theoretically, once a gene's structure, function, and association with a disease are well established, the clinical application of genetic testing should be feasible. However, for routine applications in a clinical setting, such tests must satisfy a number of criteria. These criteria include an acceptable degree of clinical and analytical validity, support of a quality assurance program, possibility of modifying the course of the diagnosed disease with treatment, inclusion of pre-and postnatal genetic counseling, and determination of whether the proposed test satisfies cost-benefit criteria and should replace or complement traditional tests. In the near future, the application of genetic testing to common diseases is expected to expand and will likely be extended to include individual pharmacogenetic assessments.

• 한국동물생명공학회지
• /
• 제37권2호
• /
• pp.80-86
• /
• 2022

The ability to determine the sex of bovine embryos before the transfer is advantageous in livestock management, especially in dairy production, where female calves are preferred in milk industry. The milk production of female and male cattle benefits both the dairy and beef industries. Pre-implantation sexing of embryos also helps with embryo transfer success. There are two approaches for sexing bovine embryos in farm animals: invasive and non-invasive. A non-invasive method of embryo sexing retains the embryo's autonomy and, as a result, is less likely to impair the embryo's ability to move and implant successfully. There are lists of non-invasive embryo sexing such as; Detection of H-Y antigens, X-linked enzymes, and sexing based on embryo cleavage and development. Since it protects the embryo's autonomy, the non-invasive procedure is considered to be the safest. Invasive methods affect an embryo's integrity and are likely to damage the embryo's chances of successful transformation. There are different types of invasive methods such as polymerase chain reaction, detection of male chromatin Y chromosome-specific DNA probes, Loop-mediated isothermal amplification (LAMP), cytological karyotyping, and immunofluorescence (FISH). The PCR approach is highly sensitive, precise, and effective as compared to invasive methods of farm animal embryonic sexing. Invasive procedures, such as cytological karyotyping, have high accuracy but are impractical in the field due to embryonic effectiveness concerns. This technology can be applicable especially in the dairy and beef industry by producing female and male animals respectively. Enhancing selection accuracy and decreasing the multiple ovulation embryo transfer costs.

• 식물분류학회지
• /
• 제38권2호
• /
• pp.151-162
• /
• 2008

제주도 특산식물인 한라참나물의 염색체수를 재조사하기 위해 핵형분석과 bicolor FISH를 수행하였다. 한라참나물의 체세포 염색체수는 2n=2x=22로 관찰되었고, 염색체의 길이는 $3.58-5.82{\mu}m$였다. 염색체의 구성은 2쌍의 중부 염색체(염색체 1과 2번), 4쌍의 차중부 염색체 (염색체 3, 4, 6, 8번), 그리고 5쌍의 차단부 염색체(염색체 5, 7, 9, 10, 11번)로 확인되었다. Bicolor FISH를 통해 3쌍의 5S와 4쌍의 45S rDNA 위치를 확인하였으며, 5S rDNA의 경우 염색체 4번의 장완 말단 부위에서 2쌍과 염색체 6번의 장완 중심과 동원체 사이에서 1쌍의 signals가 관찰되었다. 45S rDNA signals는 염색체 4, 6, 10 그리고 11번의 단완 말단에서 각각 확인되었다. 본 종의 염색체수가 핵형분석 및 FISH를 통해 이전의 연구결과와 다르게 분석됨으로써 한라참나물의 염색체수의 재고가 필요하다고 사료되었다.

• 식물분류학회지
• /
• 제39권3호
• /
• pp.193-198
• /
• 2009

국내에 자생하는 Maackia속 2종(솔비나무, 다릅나무)의 염색체수 및 핵형을 분석하고 5S와 45S rDNAs를 이용한 bicolor FISH를 수행하였다. 솔비나무와 다릅나무의 체세포 염색체수는 동일하게 2n = 2x = 18로 관찰되었고, 염색체의 길이는 $3.58{\sim}5.82{\mu}m$이였다. 솔비나무의 염색체 조성은 2쌍의 중부 염색체(염색체 1과 7번), 4쌍의 차중부 염색체(염색체 4, 6, 8, 9번), 그리고 3쌍의 차단부 염색체(염색체 2, 3, 5번)로 확인되었다. 다릅나무의 염색체는 4번이 차단부 염색체, 7번이 차중부 염색체로 솔비나무와 차이를 보였으나 다른 염색체의 동원체 위치는 유사하게 관찰되었다. 5S와 45S rDNA를 이용한 FISH 결과, 45S rDNA 유전자는 솔비나무와 다릅나무에서 각각 1쌍으로 관찰되었고 2번 염색체의 2차 협착 부위에서 확인되었다. 5S rDNA유전자를 이용한 물리지도 작성에서는 두 종 사이를 구별할 수 있는 결과를 확인할 수 있었다. 솔비나무의 경우 염색체 7번과 8번의 동원체 부위에서 2쌍이 각각 관찰되었고, 다릅나무에서는 염색체 7번과 8번뿐만 아니라 3번과 4번 염색체에서도 관찰되어 모두 4쌍으로 확인되었다. 따라서, 5S rDNA유전자를 이용한 FISH방법을 통해 세포학적으로 두 종을 구분할 수 있었다.

• 한국약용작물학회:학술대회논문집
• /
• 한국약용작물학회 2011년도 춘계학술발표회
• /
• pp.138-139
• /
• 2011

• 한국수정란이식학회:학술대회논문집
• /
• 한국수정란이식학회 2003년도 제3회 발생공학 국제심포지움 및 학술대회
• /
• pp.92-92
• /
• 2003

• Journal of Genetic Medicine
• /
• 제19권2호
• /
• pp.43-48
• /
• 2022

A prenatal chromosomal microarray (CMA) is generally recommended when a major anomaly is suspected on prenatal ultrasonography. As it can overcome the limitations of conventional karyotyping, it is expected that the number of prenatal CMA test requests will gradually increase. However, given the specificity of prenatal diagnosis, there are practical considerations compared to postnatal testing, such as the validation of prenatal specimens, maternal cell contamination, precautions when reporting variants of uncertain significance, and the need for comprehensive genetic counseling considering secondary findings. The purpose of this article is to provide necessary information to health care providers in consideration of these issues and to provide appropriate genetic counseling to patients.

• Journal of Genetic Medicine
• /
• 제16권2호
• /
• pp.49-54
• /
• 2019

Purpose: Potocki-Lupski syndrome (PTLS), is a recently identified, rare genomic disorder. The patients are affected by infantile hypotonia, poor growth and developmental delay. Facial dysmorphism may not be obvious in some patients. PTLS is associated with microduplication at chromosome 17p11.2. In the current study, three Korean patients are reported with their clinical and genetic features. Materials and Methods: The clinical findings of each patient were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were done for genetic diagnoses. Results: All the patients did not have the characteristic dysmorphic features, such as broad forehead, triangular face, asymmetric smile and palpebral fissures. On the other hand, all three patients were affected by variable degree of developmental delay, poor oral intake, failure to thrive, and language development disorders. Chromosome 17p11.2 duplication was identified by conventional karyotyping analysis only in one patient, whereas the other confirmed by MLPA analyses. Conclusion: Delayed development was mostly commonly observed in our patients without distinct dysmorphic facial features. In this respect, genomic screening in patients with developmental delay would identify more cases with PTLS to understand their long-term clinical courses with the development of adequate psychological and rehabilitation education program.