• 제목/요약/키워드: PGD

검색결과 128건 처리시간 0.034초

PB-Overexpression of OsZn15, a CCCH-tandem zinc finger protein, increases drought tolerance in rice

  • Seong, So Yoon;Jung, Harin;Choi, Yang Do;Kim, Ju-Kon
    • 한국작물학회:학술대회논문집
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    • 한국작물학회 2017년도 9th Asian Crop Science Association conference
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    • pp.115-115
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    • 2017
  • Zinc finger proteins constitute a large family which has been studied to have various functions in different organisms. Tandem CCCH zinc finger proteins (TZFs), members of the zinc finger protein family, are known to participate as post-transcriptional regulators of gene expression in eukaryotes. Here, we showed that the OsZn15, a gene for tandem CCCH zinc finger protein, is induced by abiotic stress and its overexpression in transgenic rice plants (PGD1:OsZn15) gains higher drought tolerance. Gene expression analysis of promoter:GFP plants revealed that OsZn15 is specifically expressed in anther and embryo, but not in vegetative organs. In-field evaluation, grain yield was higher in the PGD1:OsZn15 than nontransgenic plants under drought conditions. Interestingly, OsZn15 is shown to not only localize at nucleus but also co-localize with both processing bodies (PB) and stress granules (SG), two messenger ribo-nucleoprotein complexes which are known to activate by forming cytoplasmic foci under stress conditions. In sum, these results suggest that OsZn15 increases drought stress tolerance of rice probably by participating in RNA turnover in PB and SG.

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삼핵산 반복서열 질환인 헌팅톤병, 척수소뇌성 운동실조증, X-염색체 취약 증후군의 착상전 유전진단 방법에 대한 연구 (Optimized Methods of Preimplantation Genetic Diagnosis for Trinucleotide Repeat Diseases of Huntington's Disease, Spinocerebellar Ataxia 3 and Fragile X Syndrome)

  • 김민지;이형송;임천규;조재원;김진영;궁미경;송인옥;강인수;전진현
    • Clinical and Experimental Reproductive Medicine
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    • 제34권3호
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    • pp.179-188
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    • 2007
  • 목 적: 본 연구에서는 삼핵산 반복서열 확장에 의해 발병하는 헌팅톤병, 척수소뇌성 운동실조증과 X-염색체 취약 증후군 등에 대한 착상전 유전진단을 시행하기 위한 전임상 검사에서 진단 방법을 최적화하는 과정을 통해 얻은 결과들에 대해 기술하고자 한다. 연구방법: 단일 림프구를 이용한 임상전 검사에서는 서로 다른 allele를 갖고 있는 환자의 단일 세포를 사용하였으며, 헌팅톤병과 척수소뇌성 운동실조증에서는 fluorescent semi-nested PCR 시행 후 fragment analysis를 수행하였다. X-염색체 취약 증후군의 경우 multiple displacement amplification (MDA) 방법을 이용한 whole genome amplification에서 얻어진 MDA 산물로 fluorescent PCR을 시도하였다. 결 과: 헌팅톤병의 경우 단일 림프구 시료 모두에서 CAG repeats 증폭에 성공하여 100.0%의 증폭성공률과 14.0% allele drop-out (ADO) rate를, 척수소뇌성 운동실조증의 경우 94.7%의 증폭성공률과 5.6%의 ADO rate을 나타내었다. X-염색체 취약 증후군의 경우 fluorescent semi-nested PCR 방법만으로는 단일 림프구 시료에서 CGG repeats이 증폭되지 않았지만, MDA 산물을 이용한 fluorescent PCR 결과 84.2%의 증폭성공률과 31.3%의 ADO rate을 얻을 수 있었다. 결 론: 본 연구를 통해 헌팅톤병과 척수소뇌성 운동실조증의 착상전 유전진단에는 fluorescent semi-nested PCR 방법의 적용이 가능함을 확인하였으며, X-염색체 취약 증후군의 경우에는 MDA를 이용한 fluorescent PCR 방법을 사용해야 함을 알 수 있었다. 유전자의 변이에 대한 분석이 쉽지 않은 단일 유전자 이상에 대한 착상전 유전진단의 경우 다양한 유전자 분석 방법을 이용한 단일 세포에서의 진단 방법의 최적화 연구가 필수적으로 선행되어야 할 것으로 사료된다.

성선 이형성 환자 혈액 및 성선 조직에서 Y 염색체 모자이시즘의 진단 (Detection of Y Mosaicism in Blood and Gonad of Patients with Gonadal Dysgenesis)

  • 김진영;이상준;박기현;김정연;배상욱;이병석;김세광;김인규;조동제;송찬호;김재욱;이호준
    • Clinical and Experimental Reproductive Medicine
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    • 제26권3호
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    • pp.457-465
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    • 1999
  • Objective: The presence of Y chromosome in patients with gonadal dysgenesis is related to the risk of gonadoblastoma. Since the patients with abnormal sexual differentiation may have cryptic Y mosaicism, it is important to detect the presence of Y material in these patients. But sometimes it is difficult to detect Y material only with karyotyping. This study was performed to evaluate the usefulness of the SRY gene screening in blood and gonad by using PCR in detecting the presence of Y material and possible tissue mosaicism in patients with gonadal dysgenesis as Turner syndrome and 46,XY pure gonadal dysgenesis (PGD, Swyer syndrome). Method: In 26 patients with gonadal dysgenesis, we screened for Y material by using PCR for SRY gene in peripheral leukocytes and in gonadal tissues of some patients. They were 22 cases of Turner syndrome (7 45,XO, 2 46,Xi(Xq), 3 45,XO/46,XX, 5 45,XO/46,Xi(Xq), 1 45, XO/46,XY, 1 45,XO/46,Xi(Yq), 1 45,XO/47,XYY, 1 46,XX,del(X)(q24) and 1 46,X,+mar) and 4 cases of 46,XY pure gonadal dysgenesis. PCR for SRY gene in the gonadal tissue was performed in 5 Turner syndrome and 2 PGD to determine the cryptic Y mosaicism between blood and gonad. Results: By using PCR analysis for SRY, Y chromosome material was detected in the blood of 4 of 22 Turner syndrome patients (45,XO/46,Xi(Xq), 45,XO/46,Xi(Yq), 45,XO/46,XY, and 45, XO/47,XYY), 3 of 4 46,XY pure gonadal dysgenesis. Discrepancy between karyotyping and blood PCR for SRY was noted in 1 Turner syndrome (45,XO/46,Xi(Xq)) and 1 PGD. Laparoscopic gonadectomy was performed in Y containing or SRY positive cases. In addition, PCR analysis for SRY in the gonads of 5 Turner syndrome and 2 PGD showed discrepancy between blood and gonad or between both gonads in 3 Turner syndrome (45,XO/46,Xi(Xq), 45,XO/46,Xi(Y q), 45,XO/46,XY) and 2 PGD patients. Conclusion: In gonadal dysgenesis, PCR analysis for SRY gene is useful to detect the cryptic Y mosaicism that is sometimes undetected by karyotyping. And since there may be tissue mosaicism, it is necessary to evaluate Y mosaicism in various tissues even in the case without Y chromosome on karyotyping.

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Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K)

  • Park, Kyung Eui;Kim, Sung Ah;Kang, Moon Joo;Kim, Hee Sun;Cho, Sung Im;Yoo, Kyoung Won;Kim, So Yeon;Lee, Hye Jun;Oh, Sun Kyung;Seong, Moon-Woo;Ku, Seung-Yup;Jun, Jong Kwan;Park, Sung Sup;Choi, Young Min;Moon, Shin Yong
    • Clinical and Experimental Reproductive Medicine
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    • 제40권1호
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    • pp.42-46
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    • 2013
  • Hypochondroplasia (HCH) is an autosomal dominant inherited skeletal dysplasia, usually caused by a heterozygous mutation in the fibroblast growth factor receptor 3 gene (FGFR3). A 27-year-old HCH woman with a history of two consecutive abortions of HCH-affected fetuses visited our clinic for preimplantation genetic diagnosis (PGD). We confirmed the mutation in the proband (FGFR3:c.1620C>A, p.N540K), and established a nested allele-specific PCR and sequence analysis for PGD using single lymphocyte cells. We performed this molecular genetic analysis to detect the presence of mutation among 20 blastomeres from 18 different embryos, and selected 9 embryos with the wild-type sequence (FGFR3:c.1620C). A successful pregnancy was achieved through a frozen-thawed cycle and resulted in the full-term birth of a normal neonate. To the best of our knowledge, this is the first report of a successful pregnancy and birth using single-cell allele-specific PCR and sequencing for PGD in an HCH patient.

Antiplatelet Activity of NQ12 May Be Mediated by Inhibition of Cyclooxygenase and Generation of 12-HETE

  • Jin, Yong-Ri;Shin, Hye-Jun;Cho, Mi-Ra;Ryu, Chung-Kyu;Yun, Yeo-Pyo
    • 대한약학회:학술대회논문집
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    • 대한약학회 2002년도 Proceedings of the Convention of the Pharmaceutical Society of Korea Vol.2
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    • pp.278.1-278.1
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    • 2002
  • In the previous study, we reported that NQ12, a vitamin K antagonist. showed a potent antithrombotic and antiplatelet activities. In order to elucidate the antiplatelet activity of NQ12. we investigated the effect of NQ12 on arachidonic acid cascade parameters such as cPLA2. cyclooxygenase (COX), and the downstream production such as TxA2, PGD2 and 12-HETE. N012 inhibited COX activity in a concentration-dependent manner in U937 cells. (omitted)

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은행나무의 몇가지 다형적(多形的) 동위효소(同位酵素)의 유전양식(遺傳樣式) 및 연관(連關) (Inheritance and Linkage of Some Polymorphic Isozymes in Ginkgo biloba L.)

  • 권해연;김진수
    • 한국산림과학회지
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    • 제89권4호
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    • pp.527-535
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    • 2000
  • 감자전분젤을 매개로 한 수평식 전기영동장치를 이용하여 은행나무(Ginkgo biloba L.)의 megagametophyte로부터 15개 동위효소의 변이가 분석되었다. 분석된 효소 가운데서 ADH, G6PD, IDH, MPI, UGPP의 5개 효소에서는 변이가 나타나지 않았으며, 나머지 10개 효소의 11개 동위효소 구역(ACON-A, FST-B, GDH-A, GOT-B, MDH-B, MDH-C, MNR-A, PGI-B, PGM-A, 6PGD-B, SKDH-B)에서 다형성이 관찰되었다. 이중 MDH-B를 제외한 모든 구역에서 관찰된 동위효소 변이들이 1 : 1의 독립적 분리비를 보임으로써, 이들이 단일 유전자좌에 의해 조절되는 공우성 대립유전자임을 추정할 수 있었다. 한편, 동위효소 유전자좌의 3가지 조합(ACON-A : MDH-B, GOT-B : PGI-B, MNR-A : SKDH-B)에서 약한 연관관계가 관찰되었으며, 이들의 재조합 비율은 0.38-0.40로 계산되었다 (p<0.05).

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Outcomes of preimplantation genetic diagnosis using either zona drilling with acidified Tyrode's solution or partial zona dissection

  • Kim, Hyun Jung;Kim, Chung Hyon;Lee, Soo Min;Choe, Seung Ah;Lee, Joong Yeup;Jee, Byung Chul;Hwang, Doyeong;Kim, Ki Chul
    • Clinical and Experimental Reproductive Medicine
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    • 제39권3호
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    • pp.118-124
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    • 2012
  • Objective: To review the outcomes of preimplantation genetic diagnosis (PGD) using zona drilling with acid Tyrode's solution (chemical zona pellucida drilling, chemical ZD) and those of partial zona dissection (PZD). Methods: Clinical outcomes of seventy-one couples undergoing 85 PGD cycles from January 2005 to December 2010 were included. Blastocyst formation and the hatching rate, clinical pregnancy rate, ongoing pregnancy rate, implantation rate, and fetal gender ratio of the PZD and chemical ZD groups were compared. Results: Application of PZD resulted in a significantly higher rate of clinical pregnancy (40.7% vs. 15.4%, p=0.022), ongoing pregnancy (35.6% vs. 11.5%, p=0.023), and implantation (18.1% vs. 5.7%, p=0.007) compared with chemical ZD. Among non-transferred embryos, the rate of blastocyst formation on day 5 (49.1% vs. 39.5%, p=0.016) and hatching on day 6 (47.2% vs. 26.5%, p<0.001) were also significantly higher in the PZD group. Conclusion: The mechanical zona dissection (ZD) method showed better outcomes than chemical ZD in terms of the blastocyst development and pregnancy rate. In this study, the fact that chemical ZD was conducted in different period from mechanical method should be considered in interpreting the result.