• Clinical and Experimental Reproductive Medicine
• /
• v.26 no.3
• /
• pp.475-481
• /
• 1999

Objective: The purpose of this investigation is to determine the frequency of chromosomal or genetic causes of recurrent spontaneous abortion. Methods: A cytogenetic study was made in of 921 couples for 13 years from January 1984 to December 1997 in which the woman was ascertained to have had two or more spontaneous abortions at our Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University. Results: The overall incidence of chromosome anomaly was 80 out of 921 (8.7%). There were 34 cases (3.69%) of reciprocal balanced translocation and 13 cases (1.41%) of Robertsonian translocation. Also 17 cases (1.85%) of inversion and 5 cases (0.54%) of X chromosome mosiacism was observed. In the case of reciprocal balanced translocation, chromosome 8,6,7,13 were preferentially involved over others. And in the case of Robertsonian translocation, chromosome 13 was preferentially involved. Conclusion: Our study demonstrates that cytogenetic analysis is indicated in couples with 2 or more spontaneous abortion and about half of these disorders are reciprocal balanced or Robertsonian translocations.

• Clinical and Experimental Reproductive Medicine
• /
• v.32 no.2
• /
• pp.113-119
• /
• 2005

Objective: The purposes of this study were to investigate the types and the incidences of chromosomal abnormalities, and to provide an explanation for the genetic causations of recurrent spontaneous abortions in Korean population. Methods: Cytogenetic studies were carried out in 535 couples with at least two spontaneous first trimester abortions from January 1981 to December 2003. For karyotype analysis, we used modified Moorhead method by Giemsa staining and Giemsa-Trypsin-Giemsa banding Results: The overall incidence of chromosome abnormality was 32 out of 535 cases (5.98%). There were 25 cases (4.67%) of translocation and 7 cases (1.31%) of inversion. In translocation, 5 cases (0.93%) of Robertsonian translocation and 20 cases (3.74%) of reciprocal translocation were observed. In inversion, 6 cases (1.12%) of inversion of chromosome 9 and one case (0.19%) of inversion of chromosome 18 were found. Conclusion: In this study, overall chromosomal abnormality rate in couples with recurrent spontaneous abortions is much higher than that in the general population. So, chromosomal analysis should be offered for the prognostic information in genetic counseling such as prenatal diagnosis in couples with repetitive reproductive failure.

• Clinical and Experimental Reproductive Medicine
• /
• v.24 no.2
• /
• pp.199-210
• /
• 1997

A study has been carried out to elucidate the cytogenetic characteristics of Down's syndrome in Korea. This study includes 877 cases which were diagnosed as Down's syndrome by the chromosomal analyses at the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University for 13 years from January, 1984 to December, 1996. 1. 83.6% of cases were diagnosed under 1 year of age and 10.9% were between 1 and 4 years old. The overall sex ratio was 3 to 2 (male to female). 2. The most frequent indication for cytogenetic analyses was suspicion of Down's syndrome. The next were growth retardation, congenital heart diseases, congenital anomalies. 3. 88.4% of cases had free trisomy 21. In 6.5%, there was translocation, mostly Robertsonian t(14;21) or t(21;21). 3.9% of cases were mosaics mostly with one normal cell line. 4. Karyotyping was also performed in 204 parents of patients. 6 parents (2.9%) were seen to be translocation carriers of Down's syndrome. We find the unique features of Down's syndrome in Korea that the incidences of free trisomy 21 is relatively lower and that translocation is higher than western countries.

• Environmental Mutagens and Carcinogens
• /
• v.18 no.2
• /
• pp.109-115
• /
• 1998

Fluorscence in situ hybridization with chromosome-specific probe has been shown to be a valid and rapid method for detection of chromosome rearrangements induced by chemical and physical agents. This method is useful for quantifying structural aberrations, expecially for stable ones, such as translocation and insertion, which are difficult to detect with conventional method in human lymphocyte. In order to use the FISH method as a biodosimeter for monitoring human population exposed to various chemical and physical agent, baseline level of chromosome rearragement was established. Blood from forty four healthy adults were collected and analysed with whole chromosome-specific probes by human chromosome 1,2 and 4. The frequencies of stable translocation were 2.45 per 100 cell equivalent and those of insertion, color juction, acentric and dicentric were 0.32, 3.28, 0.23 and 0.27 per 100 cell equivalent respectively. The frequencies of chromosome rearragements increased with age in both sexes except for dicenrics. From above result, stable aberrations accumulate with age and it may reflect integrated lifetime exposure of adverse environment.

• The Korean Journal of Zoology
• /
• v.8 no.2
• /
• pp.9-14
• /
• 1965

The frequency of reicprocal translocation damage in males of D. melanogaster irradiated with X-rays was observed in this study. The frequencies were checked at four periods with two days intervals and duration spermatogenesis after irradiation. (1) Modification in the percentage of the reciprocal translocation damage were not obtained at interval after irradiated with 500r and 1500r of X-rays respectively. (2) In two experimental groups irradiated with 50-0r and 1500r of X-rays, the frequencies showing in the spermatogenesis were 0.50%(500r), 3.85%(1500r) in mature sperm, and 1.59%, 8.10% in the spermatocyte. (3) The frequency of reciprocal translocation between the Y and 3 rd chromosomes was the highest, but in accordance with dosage increase that of 2nd and 3rd chromosomes relatively increased from 9.34 % to 30.49% while decreased from 68.75% to 46.80% in the group of the Y and 3 rd chromosomes. (4) It was supposed that these modifications of the frequency were due to heavy damage of the 2nd chromosomes than other chromosomes in accordance with dosage increase. (5) Spontaneous reciprocal translocations involving the Y, 2nd and 3rd chormosomes was 0.23%.

• Korean Journal of Plant Taxonomy
• /
• v.53 no.1
• /
• pp.1-8
• /
• 2023

Sustainable habitats play a significant role in determining the survival and habitat preservation of endangered species. To conserve the endangered species Iris dichotoma Pall. and its habitat in Taeanhaean National Park, we collected seeds from a natural population and germinated and propagated them in a greenhouse. In 2019, the propagated individuals of I. dichotoma were transplanted at two study sites in Taeanhaean National Park. After conservation translocation, annual monitoring was conducted from 2020 to 2022, and factors related to the survival and growth of I. dichotoma (clonal propagation rate [%], the flowering rate [%], the population density [individual/m²], the maximum leaf bundle length [height; cm], the maximum leaf bundle width [cm], and the pedicel length [cm]) were measured. According to the results of the monitoring of the flowering and fruiting periods for three years after transplantation, 82.4% of individuals in total were found to have survived. During 2020 to 2022, the mean population density (individual/m²) increased from 0.36 to 0.42 and the size of the leaf bundle length and the width both decreased compared to the corresponding figures in 2019 (p < 0.05). According to the findings here, the transplanted population of I. dichotoma is considered to have adapted successfully to its new site in Taeanhaean National Park.

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

• Clinical and Experimental Reproductive Medicine
• /
• v.13 no.2
• /
• pp.145-151
• /
• 1986

The purpose of this study is to investigate the cytogenetic characteristics of Down's syndrome in Korea. For this study, selected were 92 patients who were diagnosed as Down's syndrome by the chromosomal analyses, among 115 patients who were supected of Down's syndrome and referred to the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University, for 2 years from January 1984 to December 1985. Among 92 patients with Down's syndrome 83 (90.2%) had G-trisomy, 4 (4.3%) had translocation, and 2 (2.2%) had mosaicism of normal and G-trisomic cell lines. Two patients of the remaining 3 had both G-trisomic and translocation, 47, XX, t (1:21) (p32:q22), +21, 47, XX, t (9:11) (q34:q14), +21. The remaining 1 patient had 47, XY, +mar.

• Korean Journal of Plant Taxonomy
• /
• v.49 no.4
• /
• pp.275-281
• /
• 2019

One key step in the plant restoration process is the collection of seeds from the field. For the selection of source populations of target plant species for translocation purposes (reintroduction or reinforcements), several approaches are possible. A practical method involves the use of data from reciprocal transplant studies. If no direct data are available, knowledge of population genetics and the phylogeography of the target species can serve as an alternative. In this short review, we briefly propose guidelines for those collecting seeds for plant species restoration based on population genetics theory, focusing on two main questions: Where does the plant material come from and how are sources designated, and how are seeds efficiently collected from local populations? While genetic data on a larger scale (phylogeography and population genetics) are needed to form a reply to the first question, similar data on a smaller scale (fine-scale genetic structures within populations) are necessary to shed light on the second issue.

• Korean Journal of Ichthyology
• /
• v.35 no.4
• /
• pp.217-223
• /
• 2023

The 886-bp sequence of the mitochondrial region encoding the cytb gene was used to identify the origin of the Goryeong (GR) population of Pungitius kaibarae and to characterize genetic diversity and structure among wild populations. The GR population showed the lowest haplotype diversity (H_d=0.000), while the highest haplotype diversity was confirmed at 0.755 among the Goseoung (GS) population. Nucleotide diversity ranged was the highest diversity at 0.00291 in the GS population and the lowest diversity at 0.00000 in the GR population. The GR population was genetically closest to the Pohang (PH) population. The haplotype network confirmed that the GR population was most similar to the PH population. The GR population also clustered with the PH population with high bootstrap support (98%) in a phylogenetic tree. We thus conclude that the GR population is derived from a population similar to the PH population.