• Title/Summary/Keyword: chromosomal

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Monocentric Derivative Y Chromosome with Duplication of the SRY Gene in an Azoospermic Male (무정자증 불임남성에서 관찰된 SRY 유전자의 중복을 동반한 일동원체성 derivative Y 염색체)

  • Choi, Eun-Young;Lee, Bom-Yi;Park, Ju-Yeon;Lee, Yeon-Woo;Oh, Ah-Rum;Lee, Shin-Young;Kim, Shin-Young;Han, You-Jung;Lee, Mee-Bum;Ryu, Hyun-Mee;Seo, Ju-Tae;Park, So-Yeon
    • Journal of Genetic Medicine
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    • v.7 no.2
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    • pp.160-164
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    • 2010
  • Structural abnormalities of the Y chromosome affect normal testicular differentiation and spermatogenesis. The present case showed a rare monocentric derivative Y chromosome with partial duplication of Yp including the SRY gene and deletion of Yq12 heterochromatin. The karyotype was 46,X,der(Y)(pter${\rightarrow}$q11.23::p11.2${\rightarrow}$pter).ish der(Y)(DYZ3+,DYZ1-,SRY++), confirmed through a FISH study. Even though the patient possessed an abnormal Y chromosome, testicular biopsy showed normal testicular volumes in the proband, with gonadal hormonal levels in the normal range but bilateral varicocele and hypospermatogenesis. We speculate that the abnormal Y chromosome arose from sister chromatids during Y chromosome recombination or intra chromosomal NAHR (non-allelic homologous recombination) during meiosis in the patient's father or in the very early stages of embryogenesis. The derivative Y chromosome might interfere in the meiotic stage of spermatogenesis, leading to the developmental arrest of germ cells. The present case illustrates that the infertility phenotype can have various causes. Also, it emphasizes the importance of accurate and various genetic analyses and could aid in male infertility treatment.

Rapid prenatal diagnosis of Down syndrome and Edward syndrome by fluorescence In situ hybridization : Clinical experience with 309 cases (FISH를 이용한 다운증후군과 에드워드증후군의 신속한 산전확인 : 309예의 임상적 고찰)

  • Kang, Jin-Hee;Lee, Sook-Hwan;Park, Sang-Hee;Park, Ji-Hyun;Kim, Ji-Youn;Han, Won-Bo;Kim, In-Hyun;Park, Sang-Won;Jang, Jin-Beum;Lee, Kyoung-Jin;Park, Hee-Jin;Jun, Hye-Sun;Lee, Kyung-Ju;Shin, Joong-Sik;Cha, Dong-Hyun
    • Journal of Genetic Medicine
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    • v.4 no.1
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    • pp.64-71
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    • 2007
  • Purpose : The purpose of this study was to evaluate the clinical utility of rapid detection of Down syndrome and Edward syndrome by Interphase Fluorescence in Situ Hybridization (FISH) analysis. Methods : Aretrospective study in 309 cases of amniotic fluid samples, analysed by interphase FISH with DNA probes specific to chromosome 18 and 21, was performed. All FISH results w ere compared with conventional cytogenetic karyotypings. Results : The results were considered as informative and they were obtained within 48 hrs. A case of Down syndrome and a case of Edward syndrome were diagnosed by FISH and confirmed by subsequent cytogenetic analysis. In 12 cases with normal FISH results, the cytogenetic analysis showed a case of partial trisomy 22, three cases of sex chromosomal aneuploidy, two cases of mosaicism, two cases of microdeletion, and four cases of structural rearrangement. Conclusion : FISH is a rapid and effective diagnostic method, which can be used as an adjunctive test to cytogenetic analysis, for prenatal identification of chromosome aneuploidies. For the more genome-wide screening with variety of probes, the technique of FISH is both expensive and labor-intensive.

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Identification of Leaf Blast Resistance Genes Derived from a Korean Weedy Rice, Ganghwaaengmi 11 (잡초성벼인 강화앵미11 유래 잎도열병 저항성 유전자 탐색)

  • Suh, Jung-Pil;Cho, Young-Chan;Kim, Jeong-Ju;Shin, Young-Seop;Yang, Chang-Ihn;Roh, Jae-Hwan;Kim, Yeon-Gyu
    • Korean Journal of Breeding Science
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    • v.42 no.4
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    • pp.390-396
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    • 2010
  • A weedy rice, Ganghwaaengmi 11, shows high level of leaf blast resistance. The chromosomal number and locations of genes conferring the leaf blast resistance were detected by QTL (quantitative trait loci) analysis using SSR markers in the 120 RILs (recombinant inbred lines) derived from the cross between Nagdongbyeo and Ganghwaaengmi 11. Ganghwaaengmi 11 expressed compatibility with 20 of the 45 inoculated blast isolates, in contrast to Nagdongbyeo with 44 compatible isolates. To identify QTLs affecting partial resistance, RILs were assessed in upland blast nursery in three regions and inoculated with selected nine blast isolates. QTLs for resistance to blast isolates were identified on chromosomes 7, 11 and 12. Three QTLs associated with blast resistance in nursery test at three regions were also detected on chromosomes 7, 11 and 12. The QTL commonly detected on chromosome 12 was only increased blast resistance by Ganghwaaengmi 11 allele. This QTL accounted for 60.3~78.6% of the phenotypic variation in the blast nursery test. OSR32 and RM101 markers tightly linked to QTL for blast resistance on chromosome 12 might be useful for marker-assisted selection (MAS) and gene pyramiding to improve the blast resistance of japonica rice.

Anti-Cancer Effect of Ursolic Acid in Melanoma Cell A375SM and A375P (Ursolic acid의 악성 흑색종 세포주 A375SM과 A375P에서의 항암효능)

  • Woo, Joong-Seok;Kim, Na-Won;Lee, Jin-Gyu;Kim, Jae-Hyuk;Lim, Da-Young;Kang, Shin-Woo;Kim, Sung-Hyun;Yoo, Eun-Seon;Lee, Jae-Han;Han, So-Hee;Park, Young-Seok;Kim, Byeong-Soo;Kim, Sang-Ki;Park, Byung-Kwon;Jung, Ji-Youn
    • Journal of Food Hygiene and Safety
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    • v.34 no.2
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    • pp.183-190
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    • 2019
  • Ursolic acid is recognized for various effects such as anti-cancer, antioxidant, and anti-inflammatory activity. In this study, we confirmed the anti-cancer effect of ursolic acid on human melanoma cancer cells, A375SM and A375P. Survival rate of the melanoma cells was confirmed by MTT assay and the proliferation rate was confirmed by wound healing assay. The rate of apoptotic bodies was confirmed by DAPI staining, and apoptosis rate was confirmed by flow cytometry. The induction of apoptosis protein was examined by western blotting according to the concentration of ursolic acid in melanoma cells. The survival and proliferation rates of melanoma cells were decreased according to the treatment concentrations of ursolic acid. DAPI staining showed that chromosomal condensation of melanoma cells was increased with increasing concentrations of ursolic acid, and increased apoptosis rate of melanoma cells by ursolic acid was confirmed by flow cytometry. We also confirmed by western blotting that cleaved-PARP and Bax were increased and Bcl-2 was decreased at $12{\mu}M$ concentration of uricolic acid in melanoma cells. This study was carried out at low concentrations of ursolic acid, 0 to $20{\mu}M$, and analyzed 24 h after treatment. As a result of this study, it is thought that ursolic acid has the anti-cancer effect through the regulation of apoptosis-related proteins in melanoma cells A375SM and A375P.

Identification and Chromosomal Reshuffling Patterns of Soybean Cultivars Bred in Gangwon-do using 202 InDel Markers Specific to Variation Blocks (변이영역 특이 202개 InDel 마커를 이용한 강원도 육성 콩 품종의 판별 및 염색체 재조합 양상 구명)

  • Sohn, Hwang-Bae;Song, Yun-Ho;Kim, Su-Jeong;Hong, Su-Young;Kim, Ki-Deog;Koo, Bon-Cheol;Kim, Yul-Ho
    • Korean Journal of Breeding Science
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    • v.50 no.4
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    • pp.396-405
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    • 2018
  • The areas of soybean (Glycine max (L.) Merrill) cultivation in Gangwon-do have increased due to the growing demand for well-being foods. The soybean barcode system is a useful tool for cultivar identification and diversity analysis, which could be used in the seed production system for soybean cultivars. We genotyped cultivars using 202 insertion and deletion (InDel) markers specific to dense variation blocks (dVBs), and examined their ability to identify cultivars and analyze diversity by comparison to the database in the soybean barcode system. The genetic homology of "Cheonga," "Gichan," "Daewang," "Haesal," and "Gangil" to the 147 accessions was lower than 81.2%, demonstrating that these barcodes have potentiality in cultivar identification. Diversity analysis of one hundred and fifty-three soybean cultivars revealed four subgroups and one admixture (major allele frequency <0.6). Among the accessions, "Heugcheong," "Hoban," and "Cheonga" were included in subgroup 1 and "Gichan," "Daewang," "Haesal," and "Gangil" in the admixture. The genetic regions of subgroups 3 and 4 in the admixture were reshuffled for early maturity and environmental tolerance, respectively, suggesting that soybean accessions with new dVB types should be developed to improve the value of soybean products to the end user. These results indicated that the two-dimensional barcodes of soybean cultivars enable not only genetic identification, but also management of genetic resources through diversity analysis.

Down syndrome in women aged more than 35 Years positive detection rates (산전선별검사를 통한 35세이상 산모 다운증후군 양성률 비교 평가)

  • Oh, Taek Min;Kim, Ga-Yeon;Lee, Young ki
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.22 no.6
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    • pp.314-320
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    • 2021
  • With the increasing age of motherhood in recent years, attributed to late marriages due to social or environmental factors, the Down's syndrome screening test using biochemical markers has become essential for pregnant women. The process of diagnosing Down's syndrome pregnancy in the high-risk group subjects involves chromosomal analysis, which is performed on samples obtained through invasive procedures such as chorionic biopsy or amniotic fluid. Thus, to reduce unnecessary invasive tests and lower the risk to mother and fetus, it is important to identify a screening test with low risk and high Down's syndrome detection rate. Recently, as the average age of mothers has increased, numerous inspection agencies have classified high-risk mothers as women over the age of 35 years. This study evaluated a total of 36,436 pregnant women aged between 17 to 46 years, and who requested prenatal screening at an inspection agency in Yongin in 2018. Test (13,690 people) Four tests were conducted by applying the time-resolved fluoroimmunoassay method using the direct sandwich and indirect sandwich technology, and the immunoassay method using the sandwich method. We aimed to confirm the difference in positivity rate with increasing age of the subjects. We believe that in future, data obtained from this study will be very useful for the prevention and treatment of Down's syndrome risk at varied inspection institutions, and for prospective mothers.

A Study of Guidelines for Genetic Counseling in Preimplantation Genetic Diagnosis (PGD) (착상전 유전진단을 위한 유전상담 현황과 지침개발을 위한 기초 연구)

  • Kim, Min-Jee;Lee, Hyoung-Song;Kang, Inn-Soo;Jeong, Seon-Yong;Kim, Hyon-J.
    • Journal of Genetic Medicine
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    • v.7 no.2
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    • pp.125-132
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    • 2010
  • Purpose: Preimplantation genetic diagnosis (PGD), also known as embryo screening, is a pre-pregnancy technique used to identify genetic defects in embryos created through in vitro fertilization. PGD is considered a means of prenatal diagnosis of genetic abnormalities. PGD is used when one or both genetic parents has a known genetic abnormality; testing is performed on an embryo to determine if it also carries the genetic abnormality. The main advantage of PGD is the avoidance of selective pregnancy termination as it imparts a high likelihood that the baby will be free of the disease under consideration. The application of PGD to genetic practices, reproductive medicine, and genetic counseling is becoming the key component of fertility practice because of the need to develop a custom PGD design for each couple. Materials and Methods: In this study, a survey on the contents of genetic counseling in PGD was carried out via direct contact or e-mail with the patients and specialists who had experienced PGD during the three months from February to April 2010. Results: A total of 91 persons including 60 patients, 49 of whom had a chromosomal disorder and 11 of whom had a single gene disorder, and 31 PGD specialists responded to the survey. Analysis of the survey results revealed that all respondents were well aware of the importance of genetic counseling in all steps of PGD including planning, operation, and follow-up. The patient group responded that the possibility of unexpected results (51.7%), genetic risk assessment and recurrence risk (46.7%), the reproduction options (46.7%), the procedure and limitation of PGD (43.3%) and the information of PGD technology (35.0%) should be included as a genetic counseling information. In detail, 51.7% of patients wanted to be counseled for the possibility of unexpected results and the recurrence risk, while 46.7% wanted to know their reproduction options (46.7%). Approximately 96.7% of specialists replied that a non-M.D. genetic counselor is necessary for effective and systematic genetic counseling in PGD because it is difficult for physicians to offer satisfying information to patients due to lack of counseling time and specific knowledge of the disorders. Conclusions: The information from the survey provides important insight into the overall present situation of genetic counseling for PGD in Korea. The survey results demonstrated that there is a general awareness that genetic counseling is essential for PGD, suggesting that appropriate genetic counseling may play a important role in the success of PGD. The establishment of genetic counseling guidelines for PGD may contribute to better planning and management strategies for PGD.