• Proceedings of the Korean Society of Embryo Transfer Conference
• /
• 2007.05a
• /
• pp.39-50
• /
• 2007

Sexing from bovine embryos fertilized in vitro implicates a possibility of the sex controlled cattle production. This study was carried out to produce the sex determined cattle through the embryonic sexing by fluorescence in situ hybridization (FISH) technique. FISH was achieved in in vitro fertilized bovine embryos using a bovine Y-specific DNA probe constructed from the btDYZ-1 sequence. Using this probe, a male-specific signal was detected on 100% of Y-chromosome bearing metaphase specimens. The analyzable rate of embryonic sexing by FISH technique was about 93% (365/393) regardless of embryonic stages. As tested single blastomere by FISH and then karyotype with their biopsied embryos, the accuracy of sex determination with FISH was 97.6%. We tried the embryo transfer with sex determined embryos on 15 cattle. Among them, the 5 cattle delivered calf with expected sex last year.

• Clinical and Experimental Reproductive Medicine
• /
• v.33 no.3
• /
• pp.179-187
• /
• 2006

Objectives: The risk of aneuploidies of embryos increases in advanced maternal age or parental karyotype abnormality and it results in poor reproductive outcomes such as recurrent spontaneous abortion (RSA) or repeated implantation failure (RIF). Preimplantation genetic diagnosis for aneuploidy screening (PGD-AS) can be applied for better ART outcome by selecting chromosomally normal embryos. The aim of this study is to evaluate the clinical outcome of PGD-AS and which group can get much benefit from PGD-AS among the patients expected to have poor reproductive outcome. Methods: In 42 patients, 77 PGD cycles were performed for aneuploidy screening. Patients were allocated to 3 groups according to the indication of PGD-AS: group I-patients with old age (${\geq}37$) and RIF more than 3 times (n=11, mean age=42.2 yrs.), group II-patients with RSA (${\geq}3$ times) associated with aneuploid pregnancy (n=19, mean age=38.9 yrs.), group III-parental sex chromosome abnormality or mosaicism (n=18, mean age=29.6 yrs.) including Turner syndrome, Klinefelter syndrome and 47, XYY. PGD was performed by using FISH for chromosome 13, 16, 18, 21, X and Y in group I and II, and chromosome X, Y and 18 (or 17) in group III. Results: Blastomere biopsy was successful in 530 embryos and FISH efficiency was 92.3%. The proportions of transferable embryos in each group were $32.5{\pm}17.5%$, $23.0{\pm}21.7%$ and $52.6{\pm}29.2%$ (mean ${\pm}$ SD), respectively, showing higher normal rate in group III (group II vs. III, p<0.05). The numbers of transferred embryos in each group were $3.9{\pm}1.5$, $1.9{\pm}1.1$ and $3.1{\pm}1.4$ (mean ${\pm}$ SD), respectively. The clinical pregnancy rates per transfer was 0%, 30.0% and 20.0%, and it was significantly higher in group II (group I vs. group II, p<0.05). The overall pregnancy rate per transfer was 19.6% (10/51) and the spontaneous abortion rate was 20% (2/10) of which karyotypes were euploid. Nine healthy babies (one twin pregnancy) were born with normal karyotype confirmed on amniocentesis. Conclusion: Our data suggests that PGD-AS provides advantages in patients with RSA associated with aneuploidy or sex chromosome abnormality, decreasing abortion rate and increasing ongoing pregnancy rate. It is not likely to be beneficial in RIF group due to other detrimental factors involved in implantation.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.45 no.3
• /
• pp.386-392
• /
• 2018

Turner syndrome (TS) is a chromosomal disorder caused by monosomy of the X chromosome, with complete or partial absence of the second sex chromosome. Anomalies of root morphology have been found to occur more often in patients with TS, which make endodontic treatment challenging and requires special handling. The patients with TS may also have systematic problems such as cardiac or renal malformations, so in treating these patients it is important for clinicians not only to be aware of the characteristic intraoral findings, but also to make the patients have regular dental check-ups to prevent oral complications in advance. An 12-year-old girl who had been diagnosed with TS at the age of 10 years was referred due to discomfort in the bilateral mandibular premolar regions. Dens evaginatus and taurodontism were detected in all the mandibular premolars characteristically. The bilateral mandibular first premolars had three roots and the bilateral mandibular second premolars had periapical lesion with two roots. Due to the complexity of the root canal anatomy, root canal treatment were completed with a dental microscope to ensure adequate visualization. After 2 years of regular follow-up examinations, there were no clinical sign or symptom associated with the teeth, and no periapical lesion, was found. This case report describes the characteristic oral features and dental management of TS patients.

• Clinical and Experimental Reproductive Medicine
• /
• v.30 no.3
• /
• pp.223-231
• /
• 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.

• Journal of Aquaculture
• /
• v.8 no.2
• /
• pp.141-148
• /
• 1995

For the mass production of all-female triploid rainbow trout during fall season, treatment of short-term daylength from 30th of August, 1994 and chromosome manipulation by heat shock were performed with 3-year-old fish. After treatment of short-term daylength to fish, we successfully obtained the fertilized eggs from all treated fishes. However, hatching rate were significantly lower than that of natural spawning season (P<0.05). Hormonal treatment using 3mg of $17\alpha-methyltestosterone$ per kg of diet for 55 days at $16.5^{\circ}C$ gave $100\%$ of sex-reversed male (masculinized female) population. When the fertilized eggs were treated with the various conditions of heat shocks survival rates and triploid incidencies were varied, and ranged from 15.0 to $88.2\%$ and 36.7 to $100\%$, respectively.

• Journal of Animal Science and Technology
• /
• v.50 no.4
• /
• pp.445-456
• /
• 2008

Telomeres consist of TTAGGG tandem repeated DNA sequences with specific proteins and locate at chromosome ends. Telomeres are essential for chromosome stability and are related with cell senescence, apoptosis and cancer. Telomerase is a ribonucleoprotein which has a template for the synthesis of telomeric DNA. This study was carried out to analyze the amount of telomeric DNA and telomerase activity in cattle cells. Analysis of the quantity of telomere in lymphocytes was done at different ages, sex and among Korean cattle and Holstein breeds. The telomerase activity was also analyzed in liver, brain, heart, kidney, and testis tissues of fetal calf and of 18 month old cattle. The amount of telomeres in lymphocytes and other tissue cells was analyzed by Quantitative-Fluorescence in situ Hybridization (Q-FISH) technique using a telomeric DNA probe. Telomerase activity was analyzed by Telomeric Repeat Amplification Protocol assay (TRAP). The amount of telomeric DNA on the lymphocytes during the whole life span was decreased along with age. Quantity of telomeres in Korean cattle was significantly higher than that in Holstein breed. The amount of telomeric DNA in males was significantly higher than that in females. Telomerase activity was up-regulated in most bovine tissues during fetal stage, but was down-regulated in most tissues at mature 18 month age except the testis cells. This study indicates that the amount of telomeres and telomerase activity of cells can be used as an age marker or/and a physiological marker of cattle.

• Clinical and Experimental Reproductive Medicine
• /
• v.26 no.1
• /
• pp.43-54
• /
• 1999

Klinefelter's syndrome is a very important disease in gynecologic endocrinologic fields, because the patients with this karyotype complain of infertility, azospermia and ambiguous genitalia. Y chromosome is an important chromosome which determine genetic sex and the structure of gonad and genitalia. In this study, to elucidate the cytogenetic characteristics and clinical features of Klinefelter's syndrome and Y chromosomal abnormalities in Korea, we studied 303 cases of Klinefelter's syndrome and 11 cases of Y chromosomal abnormalities which were diagnosed by chromosomal analysis at the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University for 12 years from January 1984 to December 1996. The results of this study showed as follows: 1. In a total of 9275 cases, there were 303 cases (3.3%) of Klinefelter's syndromes, 11 cases (0.1%) of Y chromosomal abnormalities. 2. In 102 cases of patients showed typical clinical features of Klinefelter's syndrome, 101 cases (99%) of them were diagnosed to Klinefelter's syndrome in karyotyping. 3. In 303 cases of Klinefelter's syndrome, there were 277 cases (91.4%) of 47,XXY complement, 16 cases (5.3%) of mosaicism, 2 cases (0.7%) of 48,XXXY, 5 cases (1.7%) of 48,XXYY and 3 cases (1.0%) of 49,XXXXY. 4. In 303 cases of Klinefelter's syndrome, 284 cases (93.7%) of them were diagnosed after puberty and only 19 cases (6.3%) of them were diagnosed before puberty. 5. In 303 cases of Klinefelter's syndrome, there were 146 cases (48.2%) of patients with infertility-associated chief complaints, 101 cases (33.3%) of patients with typical clinical features of Klinefelter's syndrome, 22 cases (7.3%) of patients with ambiguous genitalia. 6. In patients with Klinefelter's syndrome, 48,XXYY and 49,XXXXY had serious symptoms such as mental retardation, developmental delay, Down syndrome-like features, congenital anomalies, but 48,XXYY and other mosaicisms had infertility-associated symptoms or ambiguous genitalia. 7. The 8 cases of polysomy Y (XYY complement) showed several serious symptoms such as Down syndrome-like features, mental retardation, fragile X syndrome-like feature, congenital anomalies, ambiguous genitalia which could be detected before puberty.

• The Korean Journal of Zoology
• /
• v.12 no.3
• /
• pp.85-93
• /
• 1969

The frequencies of chromosomal aberrations, unmerical variations at various time intervals and DNA synthetic patterns after the treatment with steroids in synchronized human kidney cells treated with 5-AU were investigated in the present experiment. 1. In 5-AU treated group, the frequency of chromosomal aberrations per cell was 0.131, 3 times of control group. In 5-AU + progesterone and 5-AU + testosterone groups, the frequency of chromosomal aberrations per cell was 0.340 and 0.452 respectively. 2. In 5-AU treated group, the frequency of cells with abnormal chromosome number was 0.8%, which was distributed throughout the time regardless of time interval. In 5-AU + progesterone and 5-AU + testosterone groups, the frequencies of cells with abnormal chromosome number were 2.2% and 4.3% respectively and they increased with the time. In 5-AU + progesterone group, the frequency of chromosomal aberrations exhiited the peaks at 12 and 18 hour stage after the treatment with steroids and, in 5-AU + testosterone group, it decreased with the time and in 5-AU treated group no significant difference was observed 3. The increase of labeled metaphases and labelling intensities in 5-AU treated cells are the result of the accumulation of cells at S stage by 5-AU. The decrease of labeled metaphases, labelling intensities and the delay of DNA synthetic time were observed in steroid groups. DNA synthetic pattern of sex chromosomes differs according to the step of cell cycle and DNA synthetic time is irregular because of double treatments with 5-AU and steroids.

• Journal of Aquaculture
• /
• v.8 no.4
• /
• pp.295-306
• /
• 1995

The present study was performed to produce supermales and superfemales in Oreochromis niloticus by combination of induced sex reversal and diploid gynogenesis. More than $95\%$ of female was obtained by oral administration of $17\beta-estradiol$ (480 mg/kg diet) to the eutheroembryonic larvae of this species. The result of progeny tests with XY pseudofemales showed that incidences of male progeny were ranged from $71.4\%\;to\;73.7\%$. p.opo.lion of male from XY pseudofemale was not significantly different (P>0.05) from that of $\chi^2$ (1:3), but it was significantly different (P<0.01) from that of $\chi^2$(1:1) Gynogenetic diploids were produced by applying cold shocks 3 min after insemination to the eggs of XY pseudofemale sperms were genetically inactivated by ultraviolet rays of 4,050 $erg/mm^2$. Fertilization rates of gynogenetic diploids were not different from that of their controls, however, hatching rates and early survival rates were silghtly lower than those of controls. In the cytogenetic studies, there was no difference in the size of cell and nucleus between the gynogenetic diploids and the controls. At 80 days after hatching, frequencies of gynogenetic male were higher than those of gynogenetic female (P<0.01) in their population.

• Reproductive and Developmental Biology
• /
• v.37 no.3
• /
• pp.161-167
• /
• 2013

The karyotype of Korean short-hair cat was presented using the G-, C- and NOR-banding techniques. For chromosomes preparation, the fetus skin fibroblast cells were cultured and metaphases were obtained. In results, the Korean short-hair cat had 38 chromosomes with XX or XY, which consisted of 5 pairs of metacentric chromosomes(Group A and C), 3 pairs of submetacentric chromosomes (Group B), 6 pairs of medium metacentric chromosomes except for 1 pair of medium submetacentric D2 chromosomes (Group D, E), 2 pairs of acrocentric chromosomes(Group F) and metacentric X and Y sex chromosomes. In G-banding analysis, the Korean short-hair cat exhibited a typical and identical G-banding pattern in each homologous chromosome. Total number of bands and landmarks on the G-banded chromosomes of Korean short-hair cat well correspond to those of international standardization of karyotype of domestic cat. The heterochromatins of Korean short-hair cat chromosomes distributed at terminal and/or centromere regions on almost chromosomes by C-banding analysis. In addition, the C-banding pattern showed greatly heteromorphic in some chromosomes. Using the AgNOR-staining, we found the nucleolar organizer regions(NORs) of Korean short-hair cat located at chromosomes 1p12 site in E group. The quantity and number of NORs were constant among cells.