• Title/Summary/Keyword: 염색체 이수성

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C-분염(分染)에 의한 사람의 염색체 다형성에 관한 연구

  • Choi, Soo-Kyung;Paik, Yong-Kyun;Lee, Hyung-Hoan
    • Clinical and Experimental Reproductive Medicine
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    • v.16 no.1
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    • pp.41-55
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    • 1989
  • Lymphocyte chromosome preparations obtained by the micromethod (Arakaki and Sparkes, 1963) from 234 our patients (165 females and 69 males) were analysed by C-, NOR-and GC-bandings for chromosome heteromorphisms. The centromeric regions of chromosomes 1,9,16 and the long arm of the Y chromosomes were tested for C heteromorphism. Minor variations found in this study such as inv(9), prominant short arms and large satellites of acrocentrics were also examined by appropriate banding techniques. Of the 234 probands, a total of 125 different C-variants were detected, and the average frequency of the variants per individual was estimated to be 0.53. The observed variations were as follows : 99 qh variants, 5 pericentric inversions of chromosome 9, and 21 satellite and/or short arm variants.

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Superovulation-Oocyte and Uterine Function (과배란-난자 및 자궁기능)

  • 문영석
    • Korean Journal of Animal Reproduction
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    • v.20 no.4
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    • pp.379-384
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    • 1997
  • Superovulation with exogenous gonadotropins creates a spectrum of pre or periovulatory hormonal changes with subsequent detrimental effects on oocyte quality, fertilization, embryo development, implantation and maintenance of pregnancy. Our recent study determined potential roles for insulin-like growth factor-1 (IGF-1) in uterine environment regulation and preimplant tation in the rat. The evidence indicates that IGF-l may play an important role in the main tenance of a receptive uterine environment for embryonic development and the regulation of decidualization. Embryonic loss and failure of implantations following superovulation may be partially attributed to disturbances in uterine IGF-l action as observed in this study. We investigated the effects of superovulatory doses of gonadotropins on frequency of chromosomal a abnormalities of mouse embryos. Chromosome a analysis of mouse zygotes and 8- to 16-cell stage embryos from spontaneously ovulated, 5, 10, and l 15 lU pregnant mare serum gonadotropin (PMSG) superovulated mice was carried out. Aneuploidy, polyploidy and structural chrom- osomal abnormalities were detected among the four groups. However, only polyploidy was correlated with superovulation. In 10 and 15 IV PMSG treated groups, the rate of polypoidy was 2.9% and 10.5%, respectively. Furthermore, there was a dose reponse relationship between the PMSG dose and the incidence of embryonic p polyploidy (P

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Variation in Ploidy Level of Rice Plants Derived from Anther Culture (벼 약배양에서 유기된 식물체의 배수성)

  • Sohn, Jae-Keun;Lee, Su-Kwan;Oh, Byong-Geun;Park, Rae-Kyong
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.29 no.4
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    • pp.328-333
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    • 1984
  • Variation in ploidy level of regenerated plants from rice anthers and effective diploidization methods of haploid plants were studied to obtain basic information in rice breeding through anther culture. In a total of 574 plants derived from anther culture using 14F$_1$ hybrids as materials, there were 49.7% haploids, 48.6% diploids and 1.7% polyploids, respectively. The frequency of haploids in Japonica/Indica crosses was 60.6%, and that of Japonica/Japonica crosses was 43.0% in average. Inclusion of 2.4-D or NAA as phytohormone may increase the frequency of haploids, but kinetin may increase the frequency of diploids. The rate of auto-diploidization by tiller separation of haploid plants showed 8.2% in average. The rate of diploidization by leaf-sheath injection of colchicine showed 18.8% in average. Morphological characters of haploids plants showed that 64.6% in culm length, 63.4% in panicle length, 68% in flag leaf length, and 74.4% in flag leaf width compared to diploid plants. These apparent morphological differences will contribute to identify the ploidy of plants derived from rice anther culture.

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Unbalanced translocation der(8)t(8:13)(p23.3;q32.1)dn identified by array CGH and subtelomeric FISH in a patient with mental retardation (선천성 정신지체가 있는 der(8)t(8;13)(p23.3;q32.1) 핵형의 성인여성)

  • Lee, Soo-Min;Lee, Dong-Suk;Jeong, Hyun-Ah;Kim, Ki-Chul;Hwang, Do-Yeong
    • Journal of Genetic Medicine
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    • v.5 no.1
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    • pp.65-68
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    • 2008
  • Molecular cytogenetics allows the identification of unknown chromosome rearrangements, which is clinically useful in patients with mental retardation and/or development delay. We report on a 31-year-old woman with severe mental retardation, behavior development delay, and verbal performance delay. Conventional cytogenetic analysis showed a 46,XX,add(8)(p23.3) karyotype. To determine the origin of this unbalanced translocation, we performed array CGH and subtelomeric FISH. The results showed that the distal region of chromosome 8p was added to the terminal of chromosome 13q. This was confirmed the final result of 46,XX,der(8)t(8:13)(p23.3;q32.1)dn.

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A Case of a 46,XX Male with SRY Gene (SRY 유전자를 가진 46,XX 남성 1례)

  • Min, Jeong-Yong;Lee, Dong-Suk;Cho, Soo-Kyung;Park, So-Hyun;Lee, Soo-Min;Baek, Min-Kyung;Kim, Ki-Chul;Hwang, Do-Yeong
    • Journal of Genetic Medicine
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    • v.5 no.2
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    • pp.145-149
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    • 2008
  • 46,XX male is a rare sex constitution characterized by the development of bilateral testis in persons who lack a Y chromosome. Manifestations of 46,XX males are usually hypogonadism, gynecomastia, azoospermia, and hyalinations of seminiferous tubules. The incidence of XX male reversal is approximately 1 in 20,000 male neonates. The SRYgene is located at the short arm of the Y chromosome(Yp11.31) and codes for testis determining factor in humans. Here, the patient, who presented with a normal male phenotype, was referred for azoospermia. Conventional cytogenetic analysis showed a 46,XX karyotype. Quantitative fluorescent polymerase chain reaction(QF-PCR) and Multiplex PCR studies identified SRY gene. And, Fluorescence In Situ Hybridization(FISH) confirmed the SRY gene on the distal short arm of chromosome X. We identified the SRY gene on the distal short arm of chromosome X by molecular cytogenetic and molecular analyses. Therefore, molecular-cytogenetics and molecular studies were proved to be clinically useful adjunctive tool to conventional prenatal cytogenetic analysis.

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Expression of Aspergillus awamori Glucoamylase Gene in an Industrial Strain of Saccharomyces cerevisiae (산업용 Saccharomyces cerevisiae에서 Aspergillus awamori Glucoamylase 유전자의 발현)

  • Ghang Dong-Myeong;Lee Su-A;Chun Young-Hyun;Chin Jong-Eon;Lee Hwanghee Blaise;Bai Suk
    • Korean Journal of Microbiology
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    • v.41 no.2
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    • pp.146-151
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    • 2005
  • To construct an amylolytic industrial strain of Saccharomyces cerevisiae, the glucoamylase cDNA gene (GAl) from Aspergillus awamori was expressed under the control of the alcohol dehydrogenase gene promoter (ADC1p) and integrated into the chromosomes of industrial S. cerevisiae. An integrative cassette lacking bacterial ampicillin resistance gene but containing the GA1 gene, $\delta$ sequences of Ty1 retrotransposon as target sites for homologous recombination and S. cerevisiae aureobasidin A resistance gene (AUR1-C) as the selection marker was constructed to obtain a strain eligible for commercial use. Industrial S. cerevisiae transformed with this 15-integrative cassette efficiently secreted glucoamylase into the medium and grew on starch as the sole carbon source. The transformants were mitotically stable for 100 generations in nonselective medium.

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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Development of specific single nucleotide polymorphism molecular markers for Angelica gigas Nakai (ITS 영역의 HRM 분석을 통한 참당귀(Angelica gigas Nakai)의 특이적 SNP 분자표지 개발)

  • Lee, Shin-Woo;Lee, Soo Jin;Han, Eun-Hee;Shin, Yong-Wook;Kim, Yun-Hee
    • Journal of Plant Biotechnology
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    • v.48 no.2
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    • pp.71-76
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    • 2021
  • Angelica is a perennial plant used widely for medicinal purposes. Information on the genetic diversity of Angelica populations is important for their conservation and germplasm utilization. Although Angelica is an important medicinal plant genus registered in South Korea, no molecular markers are currently available to distinguish individual species from other similar species in different countries, in particular, China and Japan. In this study, we developed single nucleotide polymorphism (SNP) markers derived from internal transcribed spacer regions of the nuclear ribosomal DNA to identify a distinct domestic species, Angelica gigas Nakai, via a high-resolution melting (HRM) curve analyses. We also performed HRM curve analysis of intentionally mixed genomic DNA samples from five Angelica species. Finally, we investigated A. gigas Nakai and A. sinensis using varying ratios of mixed genomic DNA templates. The SNP markers developed in this study are useful for rapidly identifying A. gigas species from different countries.

Shoot Primordium Culture for Multiplication of Carrot (당근의 다량증식을 위한 순원기 배양)

  • 서호범;이수성
    • Korean Journal of Plant Tissue Culture
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    • v.26 no.2
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    • pp.93-97
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    • 1999
  • Shoot tips with 2 leaf primordia were cultured to induce shoot primordia in MS liquid medium supplemented with several concentrations of BA and hIAA under the conditions of 10,000 lux illuminations for 24 h and of vertical shaking of 2 rpm in carrot. Two F$_1$ hybrids and two male sterility lines were used. Shoot primordia were only induced in the medium supplemented with 2.0 mg/L of BA and 0.2 mg/L of NAA. Genotypic specificity and seasonal effect of donor parents on shoot primordia induction were not observed and average 15-20% of the planted dornes developed to shoot primordia. The induced shoot primordia were successfully propagated by subculture in the same medium. However, they were grown into three different types during multiplication, that is, the type with multiple small shoots on the surface, the type of without any shoot, and the type of callus. Shoot primordia clusters with small shoots on the surface differentiated multiple shoots successfully in 1/2 MS solid medium supplemented with 0.2 to 1.0 mg/L of IAA and 0.2 to 1.0 mg/L of kinetin. New shoot primordia with small shoots were well formed when pieces bigger than 2 mm in diameter of the out layer of the shoot primordia cluster with small shoots were subcultured. No differences of multiplication and shooting ability and chromosomal variation of shoot primordia were observed until the 13th sub-culture.

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Development of Pollen-Derived Embryos and Ploidy Level of Their Regenerated Plants in Paeonia ladctiflora Pall. (작약(Paeonia lactiflora Pall.) 화분에서 유래된 배의 발달과 분화식물체의 배수성)

  • 손재근;김광수;김경민
    • Korean Journal of Plant Tissue Culture
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    • v.21 no.4
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    • pp.215-220
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    • 1994
  • Pollen-derived embryos cultured on the hormone-free medium showed a low germination frequency (12.5%) and poor growth response after germination. The greatest frequency of germination (81.3%) was obtained from the embryos cultured on medium with 0.3mg/L GA$_3$.The greatest frequency of generation (81.3) was obtained from embryos cultured on medium with 0.3mg/L GA$_3$. The embryos precultured for 20 days on medium with 0.3mg/L GA$_3$were transferred to the medium with various combination of hormones such as IAA, kinetin, zeatin, 6-benzylaminopurin (BA) and Gh$_3$. The germination frequency of cotyledonary stage embryos showed above 72% on media with all of the hormonal combinations, but the embryos germinated on medium with 2mg/L BA or 0.1mg/L kinetin and 0.3mg/L GA$_3$ developed more vigorously into plantlets than those of other hormonal combinations. Torpedo-stage embryos cultured on medium with 0.3 mg/L Gh$_3$ were pretreated for 8 weeks at 2-week intervals at 4$^{\circ}C$, The germination frequency of the cold-preheated embryos increased with the increment of pretreatment period from 2 to 8 weeks. The greatest frequency of germination (73.3%) was obtained from the embryos pretreated for 8 weeks at 4$^{\circ}C$. The chromosomes of the root-tip cells of W plane grown for 40 days after germination were observed. Most of the regenerated plants were haploid (55.8%) or diploid (315%), but triploid (1.3%), tetraploid (5.2%), or aneuploid (6.5%) were also detected among them.

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