• Journal of Genetic Medicine
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• v.2 no.1
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• pp.11-15
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• 1998

This paper reports 3 cases with 46,XX sex reversed male. Three 46,XX hypogonadal subjects showed complete sex reversal and had normal phallus and azoospermia. We studied them under clinical, cytogenetic and molecular aspects to find out the origin of the sex reversal. Patients had markedly elevated serum follicle-stimulating hormone (FSH) and lutenizing hormone (LH) and decreased or normal range of serum testosterone. The testicular volumes were small (3-8ml). Testicular biopsy showed Leydig cell hyperplasia and atrophy of seminiferous tubules. We obtained the results of normal 46,XX, and the presence of Y chromosome mosaicism was ruled out through XY dual fluorescent in situ hybridization (FISH). By using polymerase chain reaction (PCR), we amplified short arm (SRY, PABY, ZFY and DYS14), centromere (DYZ3), and heterochromatin (DYZ1) region of the Y chromosome. PCR amplification of DNA from these patients showed the presence of the sex-determining region of the Y chromosome (SRY) but didn't show the centromere and heterochromatin region sequence. The SRY gene was detected in all the three patients. Amplification patterns of the other regions were different in these patients; one had four amplified loci (PABY+, SRY+, ZFY+, DYS14+), another had two loci (SRY+, ZFY+) and the other had two loci (PABY+, SRY+). We have found that each patient's translocation elements had different breakpoints at upstream and downstream of the SRY gene region. We conclude that the testicular development in 46,XX male patients were due to insertion or translocation of SRY gene into X chromosome or autosomes.

• Korean Journal of Poultry Science
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• v.41 no.3
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• pp.217-225
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• 2014

Telomeres are the ends of the eukaryotic chromosomes and consist of a tandem repetitive DNA sequence and shelterin protein complex. The function of telomere is to protect chromosome. Telomere length in somatic cells tends to decrease with organismal age due to the end replication problem. However, several factors at the genetic, epigenetic and environmental level affect telomere length. In this study, we estimated heritability of telomere length and investigated inheritance of telomeres in a chicken. Telomere length of lymphocytes was analyzed by semi-quantitative polymerase chain reaction using telomere primer and quantitative fluorescence in situ hybridization using telomeric DNA probe. In results, heritability of telomere length was estimated 0.9 at birth by offspring-parent regression analysis and was estimated 0.03 and 0.04 at 10 and 30 weeks old, respectively, by parental variance analysis. There was a significant positive correlation in telomere length between father and their offspring (r=0.348), and mother and their offspring (r=0.380). In inheritance patterns of telomere length, the influence of paternal and maternal effect on their offspring was similar. The influence of inherited telomeres on male and female progeny was also roughly alike. These results implicated that imprinting of parental telomere length was regulated by autosomal genes, not sex linked genes. In addition, telomere length of offspring at birth did not differ along with their maternal age. Thus, maternal age does not affects telomere length in their offspring at birth owing to cellular reprogramming at early embryonic stage.

• Journal of Microbiology and Biotechnology
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• v.19 no.12
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• pp.1656-1664
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• 2009

Bioaugmentation of bioreactors focuses on the removal of numerous organics, with little attention typically paid to the maintenance of high and stable nitrite accumulation in partial nitrification. In this study, a bioaugmented membrane bioreactor (MBR) inoculated with enriched ammonia-oxidizing bacteria (AOB) was developed, and the effects of dissolved oxygen (DO) and temperature on the stability of partial nitrification and microbial community structure, in particular on the nitrifying community, were evaluated. The results showed that DO and temperature played the most important roles in the stability of partial nitrification in the bioaugmented MBR. The optimal operation conditions were found at 2-3 mgDO/l and $30^{\circ}C$, achieving 95% ammonia oxidization efficiency and nitrite ratio ($NO_2^-/{NO_x}^-$) of 0.95. High DO (5-6 mg/l) and low temperature ($20^{\circ}C$) had negative impacts on nitrite accumulation, leading to nitrite ratio drop to 0.6. However, the nitrite ratio achieved in the bioaugmented MBR was higher than that in most previous literatures. Denaturing gradient gel electrophoresis (DGGE) and fluorescence in situ hybridization (FISH) were used to provide an insight into the microbial community. It showed that Nitrosomonas-like species as the only detected AOB remained predominant in the bioaugmented MBR all the time, and coexisted with numerous heterotrophic bacteria. The heterotrophic bacteria responsible for mineralizing soluble microbial products (SMP) produced by nitrifiers belonged to the Cytophaga-Flavobacterium-Bacteroides (CFB) group, and $\alpha$-, $\beta$-, and $\gamma$- Proteobacteria. The fraction of AOB ranging from 77% to 54% was much higher than that of nitrite-oxidizing bacteria (0.4-0.9%), which might be the primary cause for the high and stable nitrite accumulation in the bioaugmented MBR.

• Archives of Plastic Surgery
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• v.35 no.1
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• pp.13-19
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• 2008

Purpose: Human adipose tissue-derived mesenchymal stem cells(hATSCs) can be differentiated into multiple mesenchymal lineages, including bone, cartilage, and muscle. And growth hormone play important roles in the normal growth and development of the CNS. In this study, we explored whether the transplanted hATSCs and growth hormones could improve functional recoveries from rats with contusive spinal cord injury. Methods: We divided 30 female rats, which were subjected to a weight driven implant spinal cord injury, into 3 groups with 10 rats each; Group A as a control group, group B with hATSCs transplantation on injured region, and group C with hATSCs transplantation and GH administration for 7 days. Then, we researched their neurologic functional recoveries before and 2, 4, and 8 weeks after transplantation using Basso-Beattie-Bresnahan (BBB) locomotor rating scale. And we checked Y-chromosome positive cells by FISH(Fluorescent in situ hybridization) to identify the survival of transplanted mesenchymal stem cells. Results: After 4 weeks of transplantation, the group B and group C showed significant improvement of neurologic function on BBB locomotor rating scale in comparison with the group A(Group A: $13.1{\pm}0.58$, Group B: $14.6{\pm}0.69$, Group C: $14.9{\pm}0.56$). Moreover, the group C displayed meaningful recovery of neurologic function after 8 weeks in comparison with group B (Group B: $15.7{\pm}0.63$, Group C: $16.5{\pm}1.14$). The group A, the control one, improved for 5 weeks after injury, and had no more recovery. On the other hand, Group B and C showed the improvement of neurologic function continuously for 9 weeks after injury. Conclusion: In this study, we found out that hATSCs transplantation have an effect on neurologic functional recovery of spinal cord injured rat and GH injection seems to bring the synergistic results on this good tendency.

• Journal of Aquaculture
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• v.19 no.3
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• pp.157-165
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• 2006

Expression of major antioxidant enzyme (AOE) including Cu/Zn superoxide dismutase (Cu/Zn-SOD), catalase (CAT), glutathione-S-transferase (GST) and 3 glutathione peroxidase isotypes (GPXs) at mRNA levels during heat stress was examined in mud loach (Misgurnus mizolepis) liver. Based on the semi-quantitative RT-PCR, real-time RT-PCR and/or northern dot blot hybridization, the antioxidant enzyme genes were generally up-regulated during elevation of water temperature from $23^{\circ}C$ up to $32^{\circ}C$. GPXs and SOD displayed the most significant elevation of mRNA levels (up to 3 and 2 folds, respectively) while CAT showed the steady-state expression irrespective of thermal conditions. GST represented the relatively moderate response (1.3-fold increase) in its transcription to thermal stress. The transcriptional activation of AOE genes was not significant at the treatment temperature lower than $29^{\circ}C$. Increased mRNA levels of GPX (extracellular form) and SOD genes in the fish exposed to $32^{\circ}C$ was readily detectable 1 day after exposure to heat stress.

• Clinical and Experimental Reproductive Medicine
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• v.24 no.3
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• pp.393-398
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• 1997

Cytogenetic analysis was performed in 1321 couples and 141 women with history of abnormal reproductive outcome during 1988-1996. The use of high resolution banding technique and fluorescence in situ hybridization (FISH) in the chromosome analysis has made the precise evaluation of chromosome aberrations. The prevalence of balanced chromosomal translocation carriers were 3.74% (104/2783 patients). 70 cases (2.52%) were reciprocal translocation carriers and 34 (1.22%) had Robertsonian translocations. Chromosome aberrations were more frequent in women (73 cases) than in men (31 cases). No phenotypical abnormalities were found in all carriers, but they experienced abnormal reproductive outcomes such as recurrent spontaneous abortions, anomalous offsprings or infertility problem. Prenatal diagnosis was carried out on 36 subsequent pregnancies in balanced translocation carriers. The fetal karyotypes showed that 12 cases (33%) were normal, 22 (61%) were balanced translocations, and two (6%) were unbalanced translocations. It is concluded that the prevalence of balanced chromosomal translocations in patients with abnormal reproductive outcome is higher than that of the normal population. Most of the fetal samples showed normal karyotypes or balanced translocations. Although the incidence of chromosomal imbalance in the fetuses was relatively low in prenatal diagnosis, individuals with balanced translocations are predisposed to abnormal offspring with partial trisomy or monosomy. Therefore we recommend that genetic counselling and cytogenetic prenatal diagnosis for translocation carriers have to be offered to prevent recurrent chromosomal abnormal babies.

• Korean Journal of Poultry Science
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• v.35 no.3
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• pp.267-274
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• 2008

There are many kinds of anti-oxidant materials in natural plant resources. The Siberian ginseng and Eucommia are well known as anti-oxidant and medicinal plants. To investigate the effect of their anti-oxidant-like activity on telomere quantity and egg quality, diets containing Siberian ginseng leaf and Eucommia leaf at 0.5% and 1% were given Hyline Brown commercial laying hens during two periods of age: 20 to 30 wks and 60 to 70 wks. The amount of telomere in lymphocyte, liver, ovary, heart and lung was analyzed by quantitative fluorescence in situ hybridization using telomeric DNA probe. Egg weight, albumin height, Haugh unit, egg yolk color, egg shell color, egg shell thickness, egg shell weight and egg shell density were measured to analyze egg quality. The chickens consuming diets Siberian ginseng and Eucommia had higher telomeric DNA in lymphocytes than control chickens in younger layers whereas no significant differences were detected in all target cells analyzed from older layers. Egg quality was increased in younger hens with dietary supplementation as determined by egg weight, albumin height and Haugh unit but there were no effects in older hens. These results imply that dietary supplementation of Siberian ginseng and Eucommia in layers improves bio-activity and egg quality at early laying stage.