• Title/Summary/Keyword: Reproductive genetics

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A Study of Protein S Deficiency in Antiphospholipid Syndrome (항인지질증후군에서 S단백질 결핍증에 대한 연구)

  • Nam, Yoon-Sung;Kim, Nam-Keun;Kang, Myung-Seo;Oh, Do-Yeon;Cha, Kwang-Yul
    • Clinical and Experimental Reproductive Medicine
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    • v.28 no.2
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    • pp.105-110
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    • 2001
  • Objective: To evaluate the abnormality of protein S in patients with recurrent spontaneous abortion due to antiphospholipid syndrome. Material and Method: Antigen and activity of protein S were analyzed by enzyme immunoassay and clotting method, respectively. Results: Of 18 patients with antiphospholipid syndrome, 4 patients were found to have no abnormality of protein S. There were 14 cases of protein S abnormality. Among them, there were 8 cases of type 1, 1 case of type 2, and 5 cases of type 3 protein S deficiency. Conclusion: So in the workup of patients with recurrent spontaneous abortion due to antiphospholipid syndrome, the evaluation for protein S is required.

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Association of Length of Pregnancy with Other Reproductive Traits in Dairy Cattle

  • Nogalski, Zenon;Piwczynski, Dariusz
    • Asian-Australasian Journal of Animal Sciences
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    • v.25 no.1
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    • pp.22-27
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    • 2012
  • The experiment involved observations of 2,514 Holstein-Friesian cows to determine the effects of environmental factors (cow's age, calving season, weight and sex of calves, housing system) and genetic factors on gestation length in dairy cattle and the correlation between gestation length and other reproductive traits (calving ease, stillbirth rates and placental expulsion). Genetic parameters were estimated based on the sires of calved cows (indirect effect) and the sires of live-born calves (direct effect). The following factors were found to contribute to prolonged gestation: increasing cow's age, male fetuses and growing fetus weight. Optimal gestation length was determined in the range of 275-277 days based on calving ease and stillbirth rates. The heritability of gestation length was estimated at 0.201-0.210 by the direct effect and 0.055-0.073 by the indirect effect. The resulting genetic correlations suggest that the efforts to optimize (prolong) gestation length could exert an adverse influence on the breeding value of bulls by increasing perinatal mortality and calving difficulty. The standard errors of the investigated parameters were relatively high, suggesting that any attempts to modify gestation length for the purpose of improving calving ease and reducing stillbirth rates should be introduced with great caution.

Factors Affecting Seed Yield in Larix (낙엽송(落葉松)의 종자결실(種子結實)에 영향(影響)을 미치는 요인(要因))

  • Shin, Dongill;Karnosky, David F.
    • Journal of Korean Society of Forest Science
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    • v.84 no.2
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    • pp.207-217
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    • 1995
  • Various factors reducing seed yield in 4 Larix species throughout the whole reproductive cycle were investigated and partitionate losses attributed to them were determined. Pollen quality, lack of pollination, and degeneration of female gametophyte played minor roles in reducing seed yield. Failure of pollinated ovules to be fertilized was an important factor causing seed loss. Embryo degeneration was also a major factor causing seed loss in all 4 species. Strobili abortion, which causes loss of all potential seeds in a cone, was the most important factor in reducing seed loss in this study. Based on the results obtained from this studs, hybridizations in either direction between European larch and Japanese larch are likely to resulting viable seed. However, hybridization between tamarack as a mother tree and European larch are not likely to result in viable seeds being produced.

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Gonadal Maturation and Main Spawning Period of Haliotis gigantea (Gastropoda: Haliotidae)

  • Shin, So Ryung;Kim, Hyeon Jin;Lee, Dong Han;Kim, Hyejin;Sohn, Young Chang;Kim, Jae Won;Lee, Jung Sick
    • Development and Reproduction
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    • v.24 no.2
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    • pp.79-88
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    • 2020
  • This study was carried out to obtain information on the developmental biology and the management of biological resources of the abalone Haliotis gigantea in Korea. The sex ratio (female:male) in the present study was 1:1.7 and the proportion of females was 36.6% (n=106/290). Their gonadal structures displayed definitive seasonal changes which were similar in pattern to the changes in the gonad index (GI). The GI showed a pattern of definitive seasonal changes in both males and females it was high in the fall and low in the spring. The reproductive cycle could be categorized into the following six stages: inactive, early active, late active, ripe, spent, and degenerative stage. Based on the monthly changes in GI and stages of gonadal development, October to November was determined to be the main spawning period for H. gigantea on Jeju Island, Korea.

A Case of Recurrent Spontaneous Abortion Successfully Delivered by Using Preimplantation Genetic Diagnosis (착상전 유전진단을 이용하여 성공적으로 분만한 반복자연유산 1례)

  • Nam, Yoon-Sung;Lee, Sook-Hwan;Oum, Ki-Bung;Lee, Eun-Jung;Chung, Hyung-Min;Cha, Kwang-Yul
    • Clinical and Experimental Reproductive Medicine
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    • v.27 no.3
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    • pp.307-311
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    • 2000
  • Objective: To report the successful delivery in a patient of recurrent spontaneous abortion caused by chromosomal abnormality. Material and Method: Case report. Results: Twelve oocytes were obtained by in vitro fertilization. Of eleven oocytes fertilized, two embryos turned out to be normal by using fluorescent in situ hybridization on blastomere biopsy. The patient succeeded in pregnancy and the result of amniocentesis was found to be normal. She delivered the healthy female baby by cesarean section. Conclusions: The successful delivery is possible in recurrent spontaneous abortion related with reciprocal translocation by using preimplantation genetic diagnosis.

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A Vertical Transmission, de novo, and Expansion of Y chromosome Microdeletion in Male Fetuses Pregnant after Intracytoplasmic Sperm Injection (미세정자주입술로 임신이 된 남자태아의 Y 염색체 미세결실의 Vertical Transmission, de novo, 그리고 Expansion의 연구)

  • Kim, Huyn-Ah;Lee, Sook-Hwan;Cho, Sung-Won;Jeong, Hye-Jin;Son, Soo-Min;Kang, Soo-Jin;Bae, Seong-Keun;Kim, Soo-Hee;Yoon, Tae-Ki
    • Clinical and Experimental Reproductive Medicine
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    • v.31 no.2
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    • pp.105-110
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    • 2004
  • Objectives: Despite severe oligospermia, males with Y chromosome microdeletion can achieve conception through ICSI (Intracytoplasmic Sperm Injection). However, ICSI may not only result in the transmission of microdeletions but also the expansion of deletion to the offspring. The purpose of this study was to screen vertical transmission, expansion of microdeletions and de novo deletion in male fetuses conceived by ICSI. Materials and Methods: A total of 32 ICSI treated patients with their 33 (a case of twin) male fetuses conceived by ICSI were used to make this study group. Sequence-tagged sites (STSs)-based PCR analyses were performed on genomic DNA isolated from peripheral blood of fathers and from the amniocytes of male fetuses. Ten primer pairs namely, sY134, sY138, MK5, sY152, sY147, sY254, sY255, SPGY1, sY269 and sY158 were used. The samples with deletions were verified at least three times. Results: We detected a frequency of 12.5% (4 of the 32 patients) of microdeletions in ICSI patients. In 4 patients with detected deletions, two patients have proven deletions on single STS marker and their male fetuses have the identical deletion in this region. Another two patients have two and three deletions, but their male fetuses have more than 3 deletions which include deletions to their father's. Meanwhile, seven male fetuses, whose fathers were analyzed to have all 10 STS markers present, have deletions present in at least one or more of the markers. Conclusions: Although the majority of deletions on the Y chromosome are believed to arise de novo, in some cases a deletion has been transmitted from the fertile father to the infertile patient. In other cases the deletion was transmitted through ICSI treatment, it is likely that one sperm cell is injected through the oocyte's cytoplasm and fertilization can be obtained from spermatozoa. Our tests for deletion were determined by PCR and our results show that the ICSI treatment may lead to vertical transmission, expansion and de novo Y chromosome microdeletions in male fetuses. Because the sample group was relatively small, one should be cautious in analyzing these data. However, it is important to counsel infertile couples contemplating ICSI if the male carries Y chromosomal microdeletions.

Expression of N-Methylpurine-DNA Glycosylase Gene during Fetal Development and Adult in Mice (생쥐 태아 및 성체 조직에서의 N-Methylpurine-DNA Glycosylase 유전자의 발현)

  • Sohn, Tae-Jong;Kim, Nam-Keun;Lee, Sook-Hwan;Han, Sei-Yul;Ko, Jung-Jae;Park, Chan;Lee, Woo-Sik;Lee, Chan;Lee, Yong-Hee;Cha, Kwang-Yul
    • Development and Reproduction
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    • v.3 no.1
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    • pp.101-105
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    • 1999
  • N-Methylpurine-DNA glycosylase (MPG) removes N-methylpurine and other damaged purines in DNA. RT-PCR analysis revealed MPG mRNA expression at various tissues of fetal development from day 8 to day 18 fetus and day 400 mature adult. The MPG transcripts were abundant during fetal development in mice. In placenta, the MPG mRNA was continuously decreased from day 8 post coitum (p.c) to day 18 p.c. fetus. The high level of mRNA in fetal brain and liver was drastically declined in day 400 mature adult. The expression of MPG, originally characterized by its highest level of expression in the epididymis of adult mouse, was detected with high level in several other reproductive organ, including the ovary, oviduct, testis, vas deference, uterus, and seminal vesicles. These results demonstrate developmental stage- and tissue-specific variation of MPG gene expression.

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Efficacy of Duplex-nested PCR and Fluorescent PCR in the Preimplantation Genetic Diagnosis for Duchenne Muscular Dystrophy (근이영양증에 대한 착상전 유전진단에서 Duplex-nested PCR과 Fluorescent PCR 방법의 효용성)

  • Lee, Hyoung-Song;Choi, Hye Won;Lim, Chun Kyu;Park, So Yeon;Kim, Jin Young;Koong, Mi Kyoung;Jun, Jin Hyun;Kang, Inn Soo
    • Clinical and Experimental Reproductive Medicine
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    • v.32 no.1
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    • pp.17-26
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    • 2005
  • Objective: Preimplantation genetic diagnosis (PGD) is reserved for couples with a risk of transmitting a serious and incurable disease, and hence avoids the undesirable therapeutic abortion. In this study, we evaluated the efficacy of PGD for Duchenne muscular dystrophy (DMD) cases by the fluorescent PCR with polymorphic linked markers and the conventional duplex-nested PCR methods. Methods: Biopsy of one or two blastomeres was done from the embryos fertilized by ICSI on the third day after fertilization. We performed two cases of PGD-DMD by the duplex-nested PCR for the causative mutation loci and the SRY gene on Y chromosome. The triplex fluorescent PCR for the mutation loci, the SRY gene and the polymorphic microsatellite marker on X chromosome was applied for two cases of PGD-DMD. Results: By the duplex-nested PCR, successful diagnosis rate was 95.5% (21/22), but we could not discriminate the female embryos whether normal or carrier in this X-linked recessive disease. However, the triplex fluorescent PCR method showed 100% (27/27) of successful diagnosis rate, and all female embryos (n=17) were distinguished normal (n=10) from carrier (n=7) embryos. Unaffected and normal embryos were transferred into mother's uterus after diagnosis. A healthy normal male was achieved after PGD with the duplex-nested PCR method and a twin, a male and a female, were delivered with triplex fluorescent PCR method. The normality of dystrophin gene was confirmed by amniocentesis and postnatal genetic analysis in all offsprings. Conclusion: The fluorescent PCR with polymorphic marker might be useful in improving the specificity and reliability of PGD for single gene disorders.

Possible Involvement of Photoperiodic Regulation in Reproductive Endocrine System of Female Olive Flounder Paralichthys olivaceus

  • Kim, Hyun Chul;Lee, Chi Hoon;Hur, Sung Pyu;Kim, Byeong Hoon;Park, Jun Young;Lee, Young Don
    • Development and Reproduction
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    • v.19 no.1
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    • pp.11-17
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    • 2015
  • This study investigated possible involvement of photoperiodic regulation in reproductive endocrine system of female olive flounder. To investigate the influence on brain-pituitary axis in endocrine system by regulating photoperiod, compared expression level of Kisspeptin and sbGnRH mRNA in brain and FSH-${\beta}$, LH-${\beta}$ and GH mRNA in pituitary before and after spawning. Photoperiod was treated natural photoperiod and long photoperiod (15L:9D) conditions from Aug. 2013 to Jun. 2014. Continuous long photoperiod treatment from Aug. (post-spawning phase) was inhibited gonadal development of female olive flounder. In natural photoperiod group, the Kiss2 expression level a significant declined in Mar. (spawning period). And also, FSH-${\beta}$, LH-${\beta}$ and GH mRNA expression levels were increasing at this period. However, in long photoperiod group, hypothalamic Kiss2, FSH-${\beta}$, LH-${\beta}$ and GH mRNA expression levels did not show any significant fluctuation. These results suggest that expression of hypothalamic Kiss2, GtH and GH in the pituitary would change in response to photoperiod and their possible involvement of photoperiodic regulation in reproductive endocrine system of the BPG axis.

Nutritional Management for Buffalo Production

  • Sarwar, M.;Khan, M.A.;Nisa, M.;Bhatti, S.A.;Shahzad, M.A.
    • Asian-Australasian Journal of Animal Sciences
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    • v.22 no.7
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    • pp.1060-1068
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    • 2009
  • The buffalo (Bubalus bubalis) is an important contributor to milk, meat, power, fuel and leather production in many developing countries. Buffaloes can be categorized into Asian and Mediterranean buffaloes. Asian buffalo includes two subspecies known as Riverine and Swamp types. Riverine (water buffalo) and Swamp buffaloes possess different genetics (50 vs. 48 chromosomes, respectively), morphology (body frame, body weight, horn shape and skin color) and behavior (wallowing in mud or water) and thus, are reared and used for different purposes. Low per head milk yield, poor reproductive performance (seasonal breeding behavior, anestrous, and longer calving interval) and low growth rate in buffaloes have been attributed to insufficient supply of nutrients. In many parts of Asia, where the buffalo is an integral part of the food chain and rural economy, irregular and inadequate availability of quality feedstuffs and their utilization are hampering the performance of this unique animal. Balanced nutrition and better management can enhance buffalo productivity. Many efforts have been made in the last few decades to improve nutrient supply and utilization in buffaloes. Recent research on locally available feed resources such as crop residues, and industrial by-products, dietary addition of micronutrients, use of performance modifiers and use of ruminally protected fat and protein sources have shown significant potential to improve growth, milk yield and reproductive performance of buffaloes. However, a number of issues, including establishment of nutrient requirements for dairy and beef, development of buffalo calf feeding systems, nutritional management of metabolic and reproductive anomalies, and understanding and exploitation of the buffalo gut ecosystem, need to be addressed. Extensive coordinated research and extension efforts are required for improved buffalo nutrition in developing countries.