• 제목/요약/키워드: ANEUPLOIDY

검색결과 95건 처리시간 0.026초

Clinical outcomes of preimplantation genetic testing for aneuploidy in high-risk patients: A retrospective cohort study

  • Jun Woo Kim;So Young Lee;Chang Young Hur;Jin Ho Lim;Choon Keun Park
    • Clinical and Experimental Reproductive Medicine
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    • 제51권1호
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    • pp.75-84
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    • 2024
  • Objective: The purpose of this study was to evaluate the impact of preimplantation genetic testing for aneuploidy (PGT-A) on clinical outcomes among high-risk patients. Methods: This retrospective study involved 1,368 patients and the same number of cycles, including 520 cycles with PGT-A and 848 cycles without PGT-A. The study participants comprised women of advanced maternal age (AMA) and those affected by recurrent implantation failure (RIF), recurrent pregnancy loss (RPL), or severe male factor infertility (SMF). Results: PGT-A was associated with significant improvements in the implantation rate (IR) and the ongoing pregnancy rate/live birth rate (OPR/LBR) per embryo transfer cycle in the AMA (39.3% vs. 16.2% [p<0.001] and 42.0% vs. 21.8% [p<0.001], respectively), RIF (41.7% vs. 22.0% [p<0.001] and 47.0% vs. 28.6% [p<0.001], respectively), and RPL (45.6% vs. 19.5% [p<0.001] and 49.1% vs. 24.2% [p<0.001], respectively) groups, as well as the IR in the SMF group (43.3% vs. 26.5%, p=0.011). Additionally, PGT-A was associated with lower overall incidence rates of early pregnancy loss in the AMA (16.7% vs. 34.3%, p=0.001) and RPL (16.7% vs. 50.0%, p<0.001) groups. However, the OPR/LBR per total cycle across all PGT-A groups did not significantly exceed that for the non-PGT-A groups. Conclusion: PGT-A demonstrated beneficial effects in high-risk patients. However, our findings indicate that these benefits are more pronounced in carefully selected candidates than in the entire high-risk patient population.

Bleomycin이 처리된 사람 섬유아세포에서 극저주파 전자기장의 효과 (The Effect of Extremely Low Frequency Electromagnetic Fields on the Chromosomal Instability in Bleomycin Treated Fibroblast Cells)

  • 조윤희;김양지;이중원;김계은;정해원
    • Journal of Radiation Protection and Research
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    • 제33권4호
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    • pp.161-166
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    • 2008
  • 극저주파 전자기장의 노출과 여러 암 발생과의 연관성을 구명하기 위해 많은 연구가 이루어지고 있으나 아직도 결론을 내리기에는 논란이 있다. 본 연구에서는 극저주파 전자가장이 소핵, 이수성 및 염색제 재배열과 같은 염색체 손상을 유도하는지 여부와 bleomycin (BLM) 에 악해 유발된 염색체 손상 빈도를 증진시키는지 확인하기 위해 사람 섬유아세포에 BLM과 0.8mT 세기의 극저주파 전자가장을 노출시킨 후 micronucleus - centromere 분석을 수행하였다. BLM의 농도에 따라 소핵, 이수성 및 염색체 재배열의 빈도가 유의하게 증가하 였으며(p<0.05), 0.8 mT 세기의 극저주파 전자기장은 단독으로 사람 섬유아세포에 염색체 손상을 유도하지 않았으나, BLM에 의해 유발된 소핵과 이수성의 빈도를 유의하게 증가시켰다(p<0.05). 따라서 극저주파 전자기장은 단독으로 사람 섬유아세포에 유전독성을 일으키지 않으나 BLM에 의한 소핵과 이수성 빈도를 증폭하는 효과를 나타낸다.

소세포 폐암에서 DNA 배수성과 생존 기간과의 관계 (Relationship between DNA ploidy and Survival Time in Small Cell Lung Cancer)

  • 송중호;양세훈;정병학;정은택
    • Tuberculosis and Respiratory Diseases
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    • 제42권3호
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    • pp.314-321
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    • 1995
  • 연구배경: 종양세포는 세포의 비정상적인 분열성장이 증가되므로, 세포내의 DNA가 양적인 변화를 일으킨다. DNA의 양적변화인 DNA ploidy 여부는 종양의 생물학적 특성을 반영하므로, 소세포 폐임에서 DNA ploidy의 변화와 생존기간을 비교하였다. 방법: 1990년 1월부터 1991년 12월까지 원광의대 부속병원에서 원발성 소세포 폐암으로 조직병리학적 진단을 받고나서, 2회 이상의 화학요법을 실시받은 후, 최소 2년이상의 후향적 추적에 의해 사망이 확인된 42례를 대상으로 하였다. DNA ploidy 분석방법은 paraffin에 보관된 병리조직을 이용하여 유식세포 분석법에 의한 DNA histogram으로 분석하였다. DNA ploidy 여부와 평균 생존기간을 비교하였으며, 다시 TNM 병기, PS scale, 화학요법 실시 횟수 등으로 세분하여 DNA ploidy 여부와 생존기간과의 관계를 재비교하였다. 결과: 1) 전 군의 평균 생존기간은 190(${\pm}156$)일이었으며, TNM 병기, PS scale이 진행할 수록 생존기간은 단축되었다. 2) 전 군에서 DNA aneuploidy의 발현 비율은 60%(26/42)였으며, 암의 진행정도와는 관계없었다. 3) 전 군에서의 평균 생존기간은 diploidy군이 272(${\pm}197$)일로서 aneuploidy 군의 138(${\pm}90$)일보다 유의하게 연장되었다(p<0.001). 4) DNA ploidy 여부에 의한 생존기간의 차이에 대한 TNM 병기, PS scale의 영향은 없었다. 결론: 소세포 폐암 환자에서 DNA aneuploidy 군은 diploidy 군보다 유의하게 생존기간이 짧았으며, DNA ploidy 여부는 TNM 병기, PS scale과는 무관한 예후추정 인자로서 임상적 이용아 가능하다고 생각된다.

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형광직접보합법을 이용한 미배양 양수세포에서 산전 이수배수체 확인 (Prenatal Aneuploidy Detection in Uncultured Amniotic Fluid Interphase Cells by Fluorescence in situ Hybridization (FISH))

  • 설혜원;고희정;송남희;김숙령;이화진;오선경;박중신;전종관;윤보현;신희철;문신용
    • Clinical and Experimental Reproductive Medicine
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    • 제30권3호
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    • pp.223-231
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    • 2003
  • Objective: The aim of the present study was to evaluate the clinical efficiency of fluorescent in situ hybridization (FISH) in the prenatal diagnosis of chromosomal aneuploidy. Methods: We reviewed data of 268 cases to identify women undergoing genetic amniocentesis at cytogenetic laboratory, from January 2000 to December 2002. Amniotic fluid was submitted for both rapid FISH on uncultured interphase amniocytes using a commercially available DNA probe for chromosome 13, 18, 21, X, Y and standard karyotyping on cultured metaphase amniocytes. Results from FISH and full karyotype were compared. Results: There were 251 cases (84%) normal and 17 cases (16%) abnormal in FISH results. All 17 cases of trisomy 13, 18, 21 including two cases of mosaicism and sex chromosome aneuploidies which are detected by FISH were confirmed with conventional cytogenetics and there was no false positive result. Twenty two cases had karyotypically proven abnormalities that could not have been detected by the targeted FISH. Conclusion: Interphase FISH analysis of uncultured amniotic fluid cells has been shown to be an effective and reliable technique for rapid fetal aneuploidy screening during pregnancy as an adjunctive test to conventional cytogenetics.

유두상 갑상선암에서 예후인자와 DNA배수성의 상관관계 (Assessment of DNA Ploidy Patterns in Connection with Prognostic Factors in Patients with Papillary Thyroid Carcinoma)

  • 정웅윤;이종훈;박정수
    • 대한두경부종양학회지
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    • 제12권2호
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    • pp.153-160
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    • 1996
  • Regardless of the prognostic factors in papillary thyroid cancer, such as sex, age, size of tumor, extent of disease, and distant metastasis, the prognosis of papillary thyroid cancer is sometimes difficult to predict from clinical and microscopic analysis alone and additional prognostic indicators are needed. Recent studies of thyroid cancer have indicated that DNA aneuploidy may be correlated to the biological behavior of malignancy and inversely correlated to the prognosis, but it still remains contraversal. We performed this study to assess DNA ploidy patterns in relation with the previously known prognostic factors in AMES scoring system and lateral neck node metastasis in papillary thyroid cancer. A series of 132 patients with papillary thyroid cancer and 80 patients with benign thyroid tumor(27 follicular adenomas and 53 adenomatous goiters) as a control group from October 1993 to Feburary 1995 were analyzed and their nuclear DNA content was measured with flow cytometry using fresh tissue specimens. DNA aneuploidy was found in 8(6.1%) in papillary cancer and 8(10%) in benign tumor. S-phase traction(SFP) and proliferative index(PI) were higher in thyroid cancers, being 2.18$\pm$4.24%, 6.34$\pm$4.94% in the papillary thyroid cancers and 1.97$\pm$2.93%, 4.44$\pm$3.80% in the benign tumors, respectively. However there was no significant difference of values between two groups(p>0.05). Among variable prognostic factors studied(age, sex, size of tun or, extent of disease, distant metastasis in AMES scoring system and lateral neck node metastasis), DNA aneuploidy was found to be common in distant metastasis(p<0.001) and in lateral neck node metastasis(p>0.035), but there was no significant difference between the high risk and low risk group according to the AMES scoring system(p<0.08). In our study, DNA aneuploidy was not valuable in determining the presence of malignancy and did not correlate to the AMES scoring system. However, follow-up study of more cases will be needed for accurate information about the DNA ploidy as a independent prognostic factor.

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Korean physicians' attitudes toward the prenatal screening for fetal aneuploidy and implementation of non-invasive prenatal testing with cell-free fetal DNA

  • Kim, Soo Hyun;Kim, Kun Woo;Han, You Jung;Lee, Seung Mi;Lee, Mi-Young;Shim, Jae-Yoon;Cho, Geum Joon;Lee, Joon Ho;Oh, Soo-young;Kwon, Han-Sung;Cha, Dong Hyun;Ryu, Hyun Mee
    • Journal of Genetic Medicine
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    • 제15권2호
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    • pp.72-78
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    • 2018
  • Purpose: Physicians' attitudes may have a strong influence on women's decision regarding prenatal screening options. The aim of this study is to assess the physicians' attitudes toward prenatal screening for fetal aneuploidy including non-invasive prenatal testing (NIPT) in South Korea. Materials and Methods: Questionnaires were distributed and collected at several obstetrics-gynecological conferences and meetings. The questionnaire included 31 multiple choice and 5 fill-in-the-blank questions. Seven questions requested physicians' demographic information, 17 questions requested information about the NIPT with cell-free fetal DNA, and 12 questions requested information about general prenatal screening practices. Results: Of the 203 obstetricians that completed the survey. In contrast with professional guidelines recommending the universal offering of aneuploidy screening, only 53.7% answered that prenatal aneuploidy testing (screening and/or invasive diagnostic testing) should be offered to all pregnant women. Physicians tended to have positive attitudes toward the clinical application of NIPT as both primary and secondary screening methods for patients at high-risk for fetal trisomy. However, for patients at average-risk for fetal trisomy, physicians tended to have positive attitudes only as a secondary screening method. Physicians with more knowledge about NIPT were found to tend to inform their patients that the detection rate of NIPT is higher. Conclusion: This is the first study to investigate expert opinion on prenatal screening in South Korea. Education of physicians is essential to ensure responsible patient counseling, informed consent, and appropriate management after NIPT.

유식세포분리기와 세포유전학적 방법에 의한 염색체이상 분석에 관한 연구 (Study on the Analysis of Chromosome Abnormality by Flow Cytometric and Cytogenetic Methods)

  • 백청순;김묘경;이상민;김진희;백용균;이훈택;정길생
    • Clinical and Experimental Reproductive Medicine
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    • 제23권1호
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    • pp.73-79
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    • 1996
  • 골수나 유산물질에 대한 세포유전학적 검사에 있어 통상적인 염색체검사는 검사에 적합한 중기핵상을 얻기 어려워 실패하는 경우가 많다. 이러한 경우에 진단이나 치료에 도움을 줄 수 있는 방법으로 유식세포분리기를 사용하여 단일 세포내 DNA량에 따른 aneuploidy를 추적할 수 있는 가를 확인하기 위해 본 실험을 실시하였다. 79 (혈액 30, 골수 37, 유산물 12)예에서 염색체 검사와 유식세포 분리검사를 동시에 실시하여 각각의 결과를 비교한 결과 79.7% (63/79)의 일치율을 얻었다. 그러나 염색체의 손실이 없는 전좌와 역위의 경우는 물론 작은 조각의 염색체 부분이 늘어나거나 줄어든 경우에 있어서는 유식세포분리방법에 의해서 추적되지 못하였지만, 염색체 검사의 결과를 얻는데 실패한 경우에는 유식세포분리방법이 DNA량의 변화에 대한 정보를 얻을 수 있다는 것을 확인할 수 있었다. 따라서 본 연구결과는 세포유전학적 검사에서 유식세포분리방법이 염색체 검사보다 신속하며 염색체검사가 불가능한 시료에서도 DNA양에 따른 aneuploidy의 추적이 가능하다는 것을 시사한다.

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한국산 벼멸구 생태형의 염색체 변이 (Chromosomal Variation among Brown Planthopper, Nilaparvata lugens (Stal), Biotypes in Korea)

  • 고현관
    • 한국응용곤충학회지
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    • 제31권4호
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    • pp.366-370
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    • 1992
  • 벼멸구 수컷 정소에서 염색체의 변이정도를 생태형 별로 관찰하였다. 세포 분열 지수는 생태형 3에서 가장 높았고 그 다음으로 생태형 1, 생태형 2이었다. Agmatoploidy, aneuploidy, 성염색체의 loose pairings과 같은 염색체의 구조적 변화는 생태형 1, 생태형 2, 생태형 3순으로 높았다. 감수분열 제1분열기 중기는 성염색체가 상염색체로부터 현격하게 분리되어 있는 세포의 수는 생태형 2에서 가장 높았다.

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Meiotic chromosome numbers of five Carex taxa in Korea (Cyperaceae)

  • CHUNG, Kyong-Sook;IM, Hyoung-Tak
    • 식물분류학회지
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    • 제48권3호
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    • pp.201-205
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    • 2018
  • Carex L. (Cyperaceae) is the largest angiosperm genus in the temperate zones with more than 2,000 species worldwide. Unusual chromosome structures, called holocentric chromosomes, have been postulated to contribute to species diversity in the genus. In Korea, this genus has the greatest number of species, but chromosome information as it pertains to the taxa is mostly unknown. Here, we report meiotic chromosome numbers of five Carex taxa in Korea. The following observations are made: Carex jaluensis Kom. ($n=27_{II}$, $28_{II}$, $29_{II}$, $30_{II}$), C. japonica Thunb. ($n=28_{II}$, $29_{II}$), C. planiculmis Kom. ($n=30_{II}$), C. miyabei Franch. ($n=33_{II}$, $36_{II}$), C. neurocarpa Maxim. ($n=51_{II}$, $53_{II}$, $54_{II}$). Except for C. planiculmis, all of the species exhibit variations in chromosome numbers within individuals and/or taxa. The findings with regard to chromosome number diversity in Carex suggest that chromosome number variation (aneuploidy, agmatoploidy and/or symploidy) plays an important role in the richness of the species in the genus. Further cytological investigations are needed for a better understanding of sedge diversity in Korean flora.

Karyomorphological Studies on the Genus Spirogyra Link (Conjugales, Chlorophyta) from Korea

  • Kim, Jee-Hwan;Chaudhary, B.R.;Kim, Young-Hwan;Lee, In-Kyu
    • 생태와환경
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    • 제42권2호
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    • pp.192-199
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    • 2009
  • Freshwater green algae are one of the important sources of bioenergy in the future. Spirogyra is a conjugating filamentous zygnematacean green algal genus that is widely distributed worldwide with more than 400 species. Despite its widespread occurrence throughout the world, cytological studies of the genus have been limited. We investigated karyological features and chromosome numbers for seven Korean Spirogyra species. Most of the species examined in the present study showed significant karyological features, inner organization of nucleolus, heavily stainable nucleolar substance and the diffuse-centric nature of chromosomes, typical of the Conjugales. Chromosome number ranged from n=12 in S. varians to n=38 in S. africana. Aberrant cytokinesis resulted in binucleate and tetranucleate cells, which sometimes provide cytological explanation for different morphology and ploidal changes in clonal culture of Spirogyra or even different cells within the same filament. The present chromosome data also substantiates the earlier held assumption that aneuploidy must have been the chief driving force for speciation and evolution of the genus Spirogyra.