• The Korean Journal of Zoology
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• v.24 no.1
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• pp.1-7
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• 1981

1. A total of 969 flies were tested and 19 different inversions were found from the present samples collected three times at yearly intervals in an area. 2. Of the 19 polymorphisms, except for the six common paracentric types of cosmopolitan inversions, 13 were endemic. Among this latter group, one was X-chromosomal, 4 were on second chromosome and 8 on third chromosome. 3. Beside two overlapping inversions all the others were identified as single ones. And the inversion frequency on an average in every three samples tested was 38.9%. 4. The high distribution of the inversions apeared to the second chromosome suggests that a differential adaptive force may be present between the second and third chromosome.

• Clinical and Experimental Reproductive Medicine
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• v.49 no.2
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• pp.101-109
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• 2022

Objective: Y chromosome microdeletions are the second most common genetic cause of male infertility after Klinefelter syndrome. The aim of this study was to determine the patterns of Y chromosome microdeletions among infertile Mongolian men. Methods: A descriptive study was performed on 75 infertile men from February 2017 to December 2018. Y chromosome microdeletions were identified by polymerase chain reaction. Semen parameters, hormonal levels, and testis biopsy samples were examined. Results: Among 75 infertile men, two cases of Y chromosome microdeletions were identified. The first case had an AZFa complete deletion and the other had an AZFc partial deletion. This study found that the proportion of Y chromosome microdeletions among infertile Mongolian men was 2.66%. Conclusion: The findings can be applied to in vitro fertilization and assisted reproductive technology, and our results will help clinicians improve treatment management for infertile Mongolian couples.

• Clinical and Experimental Pediatrics
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• v.54 no.3
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• pp.106-110
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• 2011

In pediatric patients with acute lymphoblastic leukemia (ALL), the Philadelphia chromosome translocation is uncommon, with a frequency of less than 5%. However, it is classified as a high or very high risk, and only 20-30% of Philadelphia chromosome-positive (Ph+) children with ALL are cured with chemotherapy alone. Allogeneic hematopoietic stem cell transplantation from a closely matched donor cures 60% of patients in first complete remission. Recent data suggest that chemotherapy plus tyrosine kinase inhibitors (TKIs) may be the initial treatment of choice for Ph+ ALL in children. However, longer observation is required to determine whether long-term outcome with intensive imatinib and chemotherapy is indeed equivalent to that with allogeneic related or alternative donor hematopoietic stem cell transplantation (HSCT). Reports on the use of second-generation TKIs in children with Ph+ ALL are limited. A few case reports have indicated the feasibility and clinical benefit of using dasatinib as salvage therapy enabling HSCT. However, more extensive data from clinical trials are needed to determine whether the administration of second-generation TKIs in children is comparable to that in adults. Because Ph+ ALL is rare in children, the question of whether HSCT could be a dispensable part of their therapy may not be answered for some time. An international multicenter study is needed to answer the question of whether imatinib plus chemotherapy could replace sibling allogeneic HSCT in children with Ph+ ALL.

• Journal of Life Science
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• v.11 no.3
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• pp.279-283
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• 2001

Amyotrophic lateral sclerosis(ALS) is a progressive neurologic disorder resulting from the degeneration of upper and lower motor neurons, and is inherited in 10% of cases. About 20% of familial ALS, clinically indistinguishable from sporadic ALS, is caused by mutations of Cu/Zn superoxide dismutase on chromosome 21q22.21 inherited as an autosomal dominant trait. We now report a new locus in the non-SOD1 dominantly inherited ALS. We screened a large ALS family with 11 affected individuals and one obligate gene carrier with genome-wide ABI polymorphic markers using the ABI 377 automated system. No evidence of linkage was obtained with the autosomal markers. We next screened this family with X chromosome markers as there was no evidence of male-to-male tran-smission of the disease. Linkage was established with several X chromosome markers with a lod score up to 3.8; almost the maximum possible score in this family. Our finding imply that a gene for the dominant expression of a neuronal degeneration is coded on X chromosome and raise the question of the role of X-linked genes that escape inactivation in this pathogenesis. More importantly, our finding that a gene causing ALS is localized on X-chromosome has direct investigational relevance to sporadic ALS, where epidemiological studies show male gender predominance(1.3:1) and earlier onset in men by 5-10 years.

• Proceedings of the Korean Society of Crop Science Conference
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• 2022.10a
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• pp.221-221
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• 2022

Chromosome breakage occurred by DNA methylation inhibitor. Zebularine is known as DNA methylation inhibitor and suitable for water solubility among different DNA methylation inhibitors as 5-Azacytidine and 5-aza-2'-deoxycytidine. We used zebularine as mutagen according to different methods by roots absorption and seed imbibition. After zebularine treatment, DNA methylation inhibitor, we observed mitotic chromosome behavior what is different according to two different treatment methods. First, seed imbibition treatment in 1,000 μM of zebularine solution for 72 hours in dark conditions. The second treatment to seedlings of Keumkang was also treated in 1,000 μM of zebularine solution for 72 hours after germination. Root and shoot showed different elongations in each treatment. Root absorption treatment(3.01±0.48, 2.00±0.26) showed the shortest elongation in root and shoot than control(8.16±0.61, 4.03±0.48) and seed imbibition treatment(4.33±0.80, 2.48±0.36). It can be explained root tip meristematic cell activity was damaged by DNA methylation inhibitor. Primary root tips were collected in DW for 24 hours at low temperature(0℃) and fixed in fixation solution for 3 days to chromosome observation in mitosis. Mitotic index, chromosome structure and chromosome aberration were observed by phase-contrast microscope. Mitotic index of the control(0.29) showed twice mitotic cells as the treated groups(imbibition 0.15, absorption 0.14). Observation of chromosomes showed some short chromosomes and loosen chromosomes affected by zebularine. It is considered because of zebularine damage DNA in mitosis. We observed "gap by chromosome breakage" in chromosomes that have loose parts between centromere and telomere. It seems demethylation of zebularine occurs chromosome breakage.

• The Korean Journal of Malacology
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• v.27 no.2
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• pp.87-90
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• 2011

The karyotypes of Korean endemic land snail, Koreanohadra koreana, using air-drying method wereinvestigated. Somatic cells of this species had 2n = 58. Karyotypes were also analysed with 16 metacentric, 12 submetacentric and one subtelocentric chromosome pairs. Observed chromosomes ranged from 2.6 to $8.9{\mu}m$ and the total length was $122.3{\mu}m$. This is the second report on the chromosome numbers and the karyotype of K. koreana.

• The Korean Journal of Zoology
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• v.13 no.1
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• pp.15-20
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• 1970

The present study was undertaken in an attempt to see if the segregation frequency of a third chromosome was changed by changing the sex chromosome which were free of SD in the second chromosome. The eight genotype males having different sex chromosome constitution each were constructed by appropriate matings and the two standard laboratory stocks of Drosophila melanogaster, e and se were used as the third chromosome recessive markers for the present experiment. The results of the present investigation are given below: 1. The k values which are the proportion of the se third chromosomes recovered among progeny flies from the mating of se/e males to e females were highly signiicantly different among the four genotypes and between the two sexes,and the interaction of genotype and sex was significantly different. Thus the setregation frequency of the se third chromosome in the male, when made heterozygous with the e third chromosome, was dependent upon the sex chromosome constitution. 2. Both of the k(Woman) and the k(man) remains roughly constant among genotypes. 3. The sex ratio o the se progeny class was highly significantly heterogeneous among the four genotypes but it was homogeneous for the e progeny class. 4. The values of the k(man) and the sex ratio of the se progeny class, on the average, were higher than that of the k(Woman) and of the e progeny class, respectively. 5. Those phenomena suggest that some sort of prezygotic selection could be operating such that the combination of the e third chromosome and the Y chromosome tends to be eliminated before fertilization. This tendency argues for a re-examination of the viability estimations of Drosophila melanogaster.

• Journal of Environmental Science International
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• v.3 no.4
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• pp.297-304
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• 1994

The genetic variabilities of second chromosomes concealed Sasang natural and experimental populations of Drosophila melanogaster have been analyzed. The experimental population was composed of D. melanognter which had the lethal-free second chromosome collected from Sasang natural population in 1982. The results were as follow; The mean frequencies of deleterious genes were estimated % be 33.33% in Sasang natural population and 31.72% in experimental population. The allelism rates in lethal genes isolated from the natural and experimental populations were calculated to be about 0.95% and 12.28%, respectively. The allelism rates between lethal genes isolated from the natural population and those of the experimental population were calculated to be about 0.01%. The mean values of elimination by frequencies of deleterious genes and allelism rates were 0.0011 in the natural population and 0.0124 in the experimental population. The frequencies of phenotypic sterility of males in the natural and experimental populations were estimated to be 1.49% and 1.36%, respectively. The frequencies of genotypic sterility of females and males were estimated to be 0.90% and 1.80% in the natural population, and that of males was 2.38% in the experimental population.

• Clinical and Experimental Pediatrics
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• v.52 no.2
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• pp.242-246
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• 2009

The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we report a case with mosaic ring chromosome 13. The baby boy was born at 37 weeks of gestation by induced vaginal delivery due to intrauterine growth restriction (IUGR). He was the second baby of a 28-year-old hepatitis B carrier mother and a 32-year-old father. There was no family history of chromosomal anomalies. The baby was a symmetric IUGR with a birth weight of 1,860 g, length of 44.8 cm, and head circumference of 29.4 cm. The physical examination revealed microcephaly, trigonocephaly, flat occiput, large ears, short neck and dysmorphic facial features, including microophthalmia, hypertelorism, antimongoloid slanting palpebral fissures, a flat nasal bridge, and micrognathia. The karyotype of this patient performed by peripheral blood lymphocytes was 46,XY,r(13)(p13q34)/45,XY,-13/46,XY,dic r(13;13)(p13q34;p13q34). The baby showed failure to thrive, hypotonia, and developmental delay. We report the first case of mosaic ring chromosome 13 in a male baby in Korea and compare this case with other Korean cases of non-mosaic ring chromosome 13.

• Journal of Embryo Transfer
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• v.24 no.3
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• pp.225-230
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• 2009

Sex-sorting of sperm is an assisted reproductive technology (ART) used by the livestock industry for the mass production of animals of a desired sex. The standard method for sorting sperm is the detection of DNA content differences between X and Y chromosome-bearing sperm by flow cytometry. However, this method has variable efficiency and therefore requires verification by a second method. We have developed a sex determination method based on quantitative real-time polymerase chain reaction (qPCR) of the porcine amelogenin (AMEL) gene. The AMEL gene is present on both the X and the Y chromosome, but the length and sequence of its noncoding regions differ between the X and Y chromosomes. By measuring the threshold cycle (Ct) of qPCR, we were able to calculate the relative frequency of X chromosome. Two sets of AMEL primers were used in these studies. One set (AME) targeted AMEL gene sequences present in both X and Y chromosome, but produced PCR products of different lengths for each chromosome. The other set (AXR) bound to AMEL gene sequences present on the X chromosome but absent esholthe Y-chromosome. Relative product levels were calculated by normalizing the AXR fluorescence to the AME fluorescence. The AMEL method accurately predicted the sex ratios of boar sperm, demonstrating that it has potential value as a sex determination method.