• Title/Summary/Keyword: PGD

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Preimplantation Genetic Diagnosis for Single Gene Disorders (단일 유전자 질환에 대한 착상전 유전진단)

  • Lee, Hyoung-Song;Kim, Min-Jee;Kang, Inn-Soo
    • Journal of Genetic Medicine
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    • v.6 no.2
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    • pp.131-145
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    • 2009
  • Preimplantation genetic diagnosis (PGD) has become an assisted reproductive technique for couples who are at risk that enables them to have unaffected baby without facing the risk of pregnancy termination after invasive prenatal diagnosis. The molecular biology and technology for single-cell genetics has reached an extremely high level of accuracy, and has enabled the possibility of performing multiple diagnoses on one cell using whole genome amplification. These technological advances have contributed to the avoidance of misdiagnosis in PGD for single gene disorders. Polymerase chain reaction (PCR)-based PGD will lead to a significant increase in the number of disorders diagnosed and will find more widespread use, benefiting many more couples who are at risk of transmitting an inherited disease to their baby. In this review, we will focus on the molecular biological techniques that are currently in use in the most advanced centers for PGD for single gene disorders, including biopsy procedure, multiplex PCR and post-PCR diagnostic methods, and multiple displacement amplification (MDA) and the problems in the single cell genetic analysis.

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Genetic studies of blood markers in Cheju horses II. Blood protein types (제주마의 혈액형에 관한 연구 II. 혈액 단백질형)

  • Cho, Gil-jae;Kim, Bong-hwan;Lee, Du-sik;Lee, Kyoung-kap
    • Korean Journal of Veterinary Research
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    • v.40 no.2
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    • pp.283-290
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    • 2000
  • The present study was carried out to investigate the blood markers of Cheju horses. The blood protein types (biochemical polymorphism) were tested from 73 Cheju native horses (CNH) and 118 Cheju racehorses(CRH) by horizontal polyacrylamide gel electrophoresis (HPAGE), isoelectric focusing (IEF) and starch gel electrophoresis (SGE). At the same time, their phenotypes and gene frequencies were studied. The biochemical polymorphism phenotypes observed with high frequency were A1B-KK(97.3%), ALB-AB(49.3%), AP-SS(100%), ES-II(30.1%), GC-FF(87.7%), HB-BIBI(49.3%), TF-F2R(41.1%), TF-EF2(8.2%), PGD-FF(97.3%), PGM-SS(50.7%), GPI-II(74.0%) in CNH, While A1B-KK(99.2%), ALB-BB(50.8%), AP-SS(99.2%), ES-II(42.4%), ES-IS(14.4%), GC-FF(95.8%), HBB-IB II(39.8%), TF-F2R(21.2%), PGD-FF(77.1%), PGD-SS(4.3%), PGM-SS(72.9%), GPI-II(90.7%) in CRH. Alleles observed with high frequency were $AlB^{K}$(0.986), $ALB^{B}$(0.616), $AP^{S}$(1.000), $ES^{I}$(0.479), $ES^{F}$(0.274), $GC^{F}$(0.938), $GPI^{I}$(0.856), $HB^{BI}$(0.685), $PGD^{F}$(0.993), $PGM^{S}$(0.753), $TF^{F2}$(0.404), $TF^{R}$(0.397) in CNH and $AlB^{K}$(0.996), $ALB^{B}$(0.720), $AP^{S}$(0.996), $ES^{I}$(0.661), $ES^{F}$(0.203), $GC^{F}$(0.979), $GPI^{I}$(0.936), $HB^{BI}$(0.534), $PGD^{F}$(0.864), $PGM^{S}$(0.852), $TF^{F2}$(0.428), $TF^{R}$(0.272) in CRH. $TF^{E}$(0.041) allele and silent gene($ES^{I{^*}}$ : 0.014) were observed in CNH. The mean heterozygosity in CNH and CRH was observed 0.2974 and 0.2864, respectively.

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Does blastomere biopsy in preimplantation genetic diagnosis affect early serum ${\beta}$-hCG levels?

  • Cho, Yeon-Jean;Kim, Jin-Yeong;Song, In-Ok;Lee, Hyung-Song;Lim, Chun-Kyu;Koong, Mi-Kyoung;Kang, Inn-Soo
    • Clinical and Experimental Reproductive Medicine
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    • v.38 no.1
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    • pp.31-36
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    • 2011
  • Objective: To determine whether the serum ${\beta}$-human chorionic gonadotropin (hCG) profile following preimplantation genetic diagnosis (PGD) is lower than that of intracytoplasmic sperm injection (ICSI) cycles. Methods: A total of 129 PGD cycles and 1,161 age-matched ICSI cycles, which resulted in pregnancy (serum ${\beta}-hCG{\geq}5$ mIU/mL) on post-ovulation day (POD) 12 were included. We compared the mean serum ${\beta}$-hCG levels on POD 12, 14, 21, and 28, doubling time of serum hCG, and created a cut-off value for predicting a singleton pregnancy in each group. Results: The mean serum ${\beta}$-hCG concentration of the PGD group was significantly lower than that of the control group on POD 12, 14, and 21. The doubling time of serum ${\beta}$-hCG at each time interval showed no significant difference. The cut-off-value of serum ${\beta}$-hCG for predicting a single viable pregnancy was 32.5 mIU/mL on POD 12 and 113.5 mIU/mL on POD 14 for the PGD group, which was lower than that for the control group. Conclusion: Blastomere biopsy may decrease the ${\beta}$-hCG-producing activity of the trophoblasts, especially in early pregnancy. Setting a lower cut-off value of serum ${\beta}$-hCG for predicting pregnancy outcomes in PGD may be needed.

Prostaglandin D2 contributes to cisplatin-induced neuropathic pain in rats via DP2 receptor in the spinal cord

  • Li, Yaqun;Kim, Woong Mo;Kim, Seung Hoon;You, Hyun Eung;Kang, Dong Ho;Lee, Hyung Gon;Choi, Jeong Il;Yoon, Myung Ha
    • The Korean Journal of Pain
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    • v.34 no.1
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    • pp.27-34
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    • 2021
  • Background: Chemotherapy-induced peripheral neuropathy (CIPN) is a major reason for stopping or changing anticancer therapy. Among the proposed pathomechanisms underlying CIPN, proinflammatory processes have attracted increasing attention. Here we assessed the role of prostaglandin D2 (PGD2) signaling in cisplatin-induced neuropathic pain. Methods: CIPN was induced by intraperitoneal administration of cisplatin 2 mg/kg for 4 consecutive days using adult male Sprague-Dawley rats. PGD2 receptor DP1 and/or DP2 antagonists were administered intrathecally and the paw withdrawal thresholds were measured using von Frey filaments. Spinal expression of DP1, DP2, hematopoietic PGD synthase (H-PGDS), and lipocalin PGD synthase (L-PGDS) proteins were analyzed by western blotting. Results: The DP1 and DP2 antagonist AMG 853 and the selective DP2 antagonist CAY10471, but not the DP1 antagonist MK0524, significantly increased the paw withdrawal threshold compared to vehicle controls (P = 0.004 and P < 0.001, respectively). Western blotting analyses revealed comparable protein expression levels in DP1 and DP2 in the spinal cord. In the CIPN group the protein expression level of L-PGDS, but not of H-PGDS, was significantly increased compared to the control group (P < 0.001). Conclusions: The findings presented here indicate that enhanced PGD2 signaling, via upregulation of L-PGDS in the spinal cord, contributes to mechanical allodynia via DP2 receptors in a cisplatin-induced neuropathic pain model in rats, and that a blockade of DP2 receptor activation may present a novel therapeutic target for managing CIPN.

Allozyme Variation of 6-Phosphogluconate Dehydrogenase in the Freshwater Snail Genus Gyraulus (Pulmonata : Planorbidae)

  • Younghun Jung;Park, Yun-Kyu;Chung, Pyung-Rim
    • The Korean Journal of Malacology
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    • v.16 no.1_2
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    • pp.11-16
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    • 2000
  • The electrophoretic banding patterns of 6-phosphogluconate dehydrogenase (PGD) in the two different chromosomal ploidy groups of Gyraulus were compared. The monomeric or dimeric banding patterns or allelic variations in a locus of PGD were observed in four diploid populations (Osan, Sohre, Kimpo and Kangwha) of G. convexiusculus occurring in Korea, whereas the isozyme banding patterns encoded by at least 3 different loci were shown in the tetraploid populations of G. (Torquis) groups collected from Michigan, the U.S.A. Of 3 different tetraploid groups, G. (T.) circumstriatus group showed 3 monomorphic isozyme banding patterns, and the other 2 populations showed some allelic variations. Such results provided good evidence to differentiate tetraploid subgenus Torquis group from the diploid Gyraulus populations.

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Anti-platelet Effect of Carvacrol Extracted from Thuja Orientalis L.;A Possible Mechanism Through Arachidonic Acid Pathway (백자인에서 추출된 Carvacrol의 항혈소판 효과)

  • Ahn, Byeong-Joon;Song, Ho-Sueb
    • Journal of Acupuncture Research
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    • v.24 no.2
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    • pp.31-38
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    • 2007
  • 목적 : 백자인에서 추출된 Carvacrol이 혈소판 활성화와 혈액 응고에 미치는 영향에 대해 알아보고자 하였다. 방법 : Carvacrol의 항혈소판 효과의 기제를 밝히기 위해 토끼 혈소판으로 Arachidonic Acid 유리,TXB2, PGD2, 12-HETE의생성을 방사선 크로마토그래피 분석을 사용하여 측정하였다. 결과 : 1. U46619를 제외하고 Collagen과 AA에 의해 유발된 응고는 Carvacrol 농도에 따라 억제되었다. 2. Collagen으로 인하여 자극된 AA 유리에 대한 Carvacrol의 유의한 억제 효과는 나타나지 않았다. 3. AA로 유발된 TXB2, PGD2와 12-HETE의 생성억제에 대한 실험에서 Carvacrol은 유의한 억제가 있는 것으로 나타났으며,농도의존적으로 억제되었다. 결론 : Carvacrol은 항혈소판 작용이 있는 것으로 볼 수 있다. 이는 한의학에서 활혈거어 작용으로 해석될수 있으며,타박상,윌경곤란증,탈모증 등 어혈질환의 예방 및 치료와 관련된 약침개발에 기초가 될수 있을 것으로 사료된다.

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