• 한국동물학회지
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• 제24권1호
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• pp.1-7
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• 1981

초파리 自然集團의 逆位多型現象을 硏究하기 爲하여 全州近郊의 포도원에서 年間隔으로 三回 採集한 總 969 마리의 암컷을 分析한 結果 19個型의 異型接合逆位를 觀察했다. 19逆位中 全世界分布型 6個를 除外하고 나머지는 모두 地域型이었으며, 本集團의 平均逆位頻度는 38.9%였다.

• Clinical and Experimental Reproductive Medicine
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• 제49권2호
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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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• 제54권3호
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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.

• 생명과학회지
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• 제11권3호
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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.

• 한국작물학회:학술대회논문집
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• 한국작물학회 2022년도 추계학술대회
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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.

• 한국패류학회지
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• 제27권2호
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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.

• 한국동물학회지
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• 제13권1호
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• pp.15-20
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• 1970

초파리의 성 염색체의 구성 여하에 따라 그 제 3염색체의 분리가 달라지는가를 조사하기 위하여 성 염색체의 구성이 다른 8가지 인자형을 만들고 제 3염색체 marker로서 e와 se를 이용하여 se의 분리를 k값으로 검토하고 아울러 성비를 조사 검토한 결과는 다음과 같다. 1. se의 분리 즉 k 값은 인자형간에 그리고 성간에 매우 유의적인 차를 보였으며 인자형과 성과의 상호작용도 유의적 차이를 보여 주었다. 이것은 분명히 se 제3염색체의 분리가 성 염색체의 구서에 영향을 받은 것을 말해 준다. 2. k(여) 값이나 k(남)값은 다 같이 인자형간에 유의적 차이를 볼 수 없다. 3. se자손의 성비는 인자형간에 매우 유의적 차이를 보였으나 e자손에서는 뚜렷한 차이를 볼수 없었다. 4. 평균적으로 k(남) 값은 k(여)값보다 높고, se자손의 성비는 e자손의 성비보다 높았다. 5. 이러한 결과는 어떤 종류의 prezygotic selection이 작용하는 것으로 해석할수 있는데, 즉 e 제3염색체와 Y염색체의 조합이 수정전에 감수되는 것으로 생각할 수 있다. 이러한 문제는 종래 초파리 등에서 실시했던 생존력 추정을 재 평가할 필요성을 말해주는 것이다.

• 한국환경과학회지
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• 제3권4호
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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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• 제52권2호
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• pp.242-246
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• 2009

13번 환염색체 증후군은 정신발달의 지체, 성장 장애, 안면부 기형, 중추신경계 기형, 심장기형, 손발의 기형, 골격계 기형 및 항문기형의 특징을 가진다. 많은 수의 13번 환염색체 증후군에 대한 보고가 있었지만 국내에서는 오직 6예의 임상증례 고가 있다. 이들 보고는 모두 순수한 13번 환염색체 증후군을 보고한 것으로 본 저자들은 13번 환염색체 모자이크 현상의 증례를 경험하였다. 산전진찰 상 자궁내 발육지연이 의심되었던 남아에서 안면부기형이 관찰되었으나 이 외에 이학적 검사상 심장 기형, 골격계 및 외부 생식기 기형은 특별히 관찰되지 않았다. 시행한 세포 유전학 검사상 13번 염색체의 ring/monosomy/dicentric 모자이크 현상이 나타났다. 이후에도 근력저하, 성장과 발달지연을 보이고 있다. 저자들은 안면부 기형, 소두증과 대칭성 자궁내 발육지연을 보인 남아에서 13번 환염색체의 모자이크 증후군을 경험하여 기존에 보고된 다른 증례들과 임상 양상을 비교하여 보고하는 바이다.

• 한국수정란이식학회지
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• 제24권3호
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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.