• Title/Summary/Keyword: Y-chromosome

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Studies on Chromosomal Aberration in Korean Native Cattle I. 1/29 Robertsonian Translocation of Korean Native and Crossbred Bulls (한우의 염색체 이상에 관한 연구 I. 한우와 교잡종 수소에서의 1/29 Robertson형 전좌)

  • 김창근;정영채;이근상;김흥률;이장희;정진태
    • Korean Journal of Animal Reproduction
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    • v.15 no.2
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    • pp.87-95
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    • 1991
  • The chromosome analyses of blood culture were made of 11 Korean native and 53 crossbred males between the Korean native cattles(K) and Charolais(C), which consisted of $K\times$K, $C\times$K, $C\times$CK, CK$\times$CCK and Charolais synthetic males(CK$\times$CCK or CCK$\times$CK). 1. The diploid(2n=60, XY) Charolais synthetic male has the 29 pairs of acrocentric autosomes, a single large submetacentric X and a small metacentric Y chromosome. 2. The numbers of G-band of karyotype in these males were a few differences in the 8 pairs of autosomes(chromosome 2, 4, 5, 6, 9, 11, 19 and 26) compared to those of purebred Korean native ones. G-banding qualities were not matched in chromosome 16, 19 and 29 with the Korean native males and also in chromosome 14, 20 and 22 with other domestic cattles. 3. The G-banding pattern between chromosome 4-6-7 and 24-25-27 was alomost similar together and the possibilityof misidentification was greater in the G-banded preparations. 4. 1/29 Robertsonian translocation and other abnormalities were not observed among 11 Korean native and 53 crossbred males. This result is considered in relation to limited data and further investigation based on larger samples may be necessary for definite conclusion.

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A Case of Ring Chromosome 20 with Mental Retardation and Epilepsy (정신 지체와 간질을 동반한 20 환(Ring) 염색체 증후군 1례)

  • Jung, Yeon Kyung;Lee, Gyeong Hoon
    • Clinical and Experimental Pediatrics
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    • v.48 no.1
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    • pp.108-111
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    • 2005
  • Ring chromosome 20 mosaicism [r(20)] is a rare chromosomal anomaly associated with minor dysmorphism, mental retardation, autistic behavior, and intractable epilepsy. The proposed mechanism of ring formation is breakage of both short and long arms of a chromosome with subsequent end-to-end fusion. We encountered an 18-month-old boy who presented with developmental delay and mental retardation with seizure episodes, but showed normal brain magnetic resonance imaging. Chromosome study from peripheral blood showed 46,XY, r(20)(p13q13.3) karyotype. The authors report a case of ring chromosome 20 with mental retardation and epilepsy, with a review of the literature.

Characterization of X-linked RNA Transcripts in Matured Bovine Spermatozoa

  • Jeon, Byeong-Gyun;Kumar, B. Mohana;Rho, Gyu-Jin
    • Reproductive and Developmental Biology
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    • v.35 no.3
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    • pp.209-214
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    • 2011
  • Although the function and utility of RNA transcripts derived from matured spermatozoa remains unclear, they might play important roles in the establishment of a paternal genome and subsequently embryo development. Herein, we investigated the expression of X-chromosome linked RNA transcripts in matured bovine spermatozoa. The total RNA was extracted from the matured spermatozoa, and then converted to cDNA. Autosomal genes (ACT-${\beta}$ and H-2A) and X-chromosome linked genes (ANT3, HPRT, MeCP2, RPS4X, XIAP, XIST and ZFX) were analyzed for the characterization of X-chromosome linked RNA transcripts and compared to female fibroblasts by RT-PCR. The transcripts of autosomal genes (ACT-${\beta}$ and H2A) and X-chromosome linked genes (ANT3, HPRT, MeCP2, RPS4X and ZFX) were not detected in spermatozoa. However, XIAP (X-linked inhibitor of apoptosis protein) and XIST (X-chromosome inactive-specific transcript, a kind of paternal imprinted gene) transcripts were detected in spermatozoa, and relative levels of XIAP and XIST transcripts were similar and 0.5-fold lower when compared to female fibroblasts, respectively. Based on the findings, it is summarized that the presence of RNA transcripts of XIAP and XIST in the isolated spermatozoa may imply their role in inhibition of apoptosis and induction of X-chromosome inactivation in embryo development.

Chromosome of Spined Loach, Iksookimia yongdokensis (Pisces: Cobitidae) from Korea (미꾸리과 어류 동방종개 Iksookimia yongdokensis의 염색체)

  • Kim, So-Young;Park, Jong-Young;Kim, Ik-Soo
    • Korean Journal of Ichthyology
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    • v.11 no.2
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    • pp.172-176
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    • 1999
  • Chromosome of cobitid fishes, Iksookimia yongdokensis collected from the 4 streams flowing to the eastsouthern coast of Korea was studied using chromosome of gill and kidney cells prepared by flame drying technique. The results obtained were as follows: the chromosome number was 100 composed of 44 meta-submetacentric and 56 subtelo-telocentric chromosomes, and the fundamental number (FN) was 144. It was remarked that Iksookimia yongdogensis was distinguishable from its congeners in the karyotype. The above evidences may suggest that Iksookimia yongdokensis was one of the tetraploid species of cobitid fishes.

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Computing of the Fuzzy Membership Function for Karyotype Classification (핵형 분류를 위한 퍼지 멤버쉽 함수의 처리)

  • Eom, Sang-Hee;Nam, Jae-Hyun
    • Journal of the Korea Society of Computer and Information
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    • v.11 no.6 s.44
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    • pp.1-8
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    • 2006
  • Many researchers have been studied for the automatic chromosome karyotype classification and analysis. For the automatic classify the each chromosome which is the image in microscope, it is necessary to process the sub-procedure, ie. image pre-processing, implementing karyotype classifier. The image pre-processing proceeded the each chromosome separation, the noise exception and the feature parameter extraction. The extracted morphological feature parameter were the centromeric index(C.I.), the relative length ratio(R.L.), and the relative area ratio(R.A.). In this paper, the fuzzy classifier was implemented for the human chromosome karyotype classification. The extracted morphological feature parameter were used in the input parameter of fuzzy classifier. We studied about the selection of the membership function for the optimal fuzzy classifier in each chromosome groups.

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Chromosome 11q13 deletion syndrome

  • Kim, Yu-Seon;Kim, Gun-Ha;Byeon, Jung Hye;Eun, So-Hee;Eun, Baik-Lin
    • Clinical and Experimental Pediatrics
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    • v.59 no.sup1
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    • pp.10-13
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    • 2016
  • Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care.

Karyotype Analysis of Anemarrhena asphodeloides Bunge (지모의 핵형 분석)

  • Kim, Soo-Young;Koo, Dal-Hoe;Bang, Jae-Wook
    • Korean Journal of Medicinal Crop Science
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    • v.10 no.2
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    • pp.144-146
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    • 2002
  • Cytogenetic analysis of Anemarrhena ashodeloides BUNGE, which is one of medicinal plants belonging to Haemodoraceae was carried out using Feulgen staining. The somatic metaphase chromosome number was identified to 2n=22 (x=11) and the size of chromosomes ranges from $1.27-3.80\;{\mu}m$. Three pairs of chromosomes were relatively long in total length and the others were short. The karyotype was bimodal in chromosome length and arm ratios. The chromosome complement comprise eight pairs of metacentric (chromosome 2, 3, 6, 7, 8, 9, 10, and 11), two pairs of submetacentric (chromosome 4 and 5), and one pair of subtelocentric (chromosome 1).

Second locus for late-onset familial Amyotrophic Lateral Sclerosis (가족성 근위축성측삭경화증을 유발시키는 두 번째 유전자 위치)

  • 홍성출
    • 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.

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Study on the Somatic Chromosome Numbers of Korean Aster L. and Its Allied Taxa (한국산 개미취속 및 근연 분류군의 체세포염색체수에 관한 연구)

  • 정규영
    • Korean Journal of Plant Resources
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    • v.10 no.4
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    • pp.292-299
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    • 1997
  • The somatic chromosome numbers among the various taxonomic characters about 17 taxa in Korean Aster and its allied taxa were investigated to review accurate scientific name and taxonomic rank. The somatic chromosome numbers of the treated taxa were invariable in same taxa, but variable among different taxa. The treated taxa were divided into two types by basic chromosome numbers, one type was x=9, the other x=8 and x=9 type was subdivided by polyploidy. The somatic chromosome numbers of Aster altaicus var. uchiymae, A. hyatae, Kalimeris chejuensis were reported firstly in this study, and based upon somatic chromosome numbers and leaf morphology, the plants, idenified as Aster pinnatifidus in Korea was considered variant of Kalimeris incisa.

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The Optimal Ellipse Estimation Method for Chromosome Bands Extraction (염색체 마디 추출을 위한 최적타원 추정기법)

  • Lee, Sang-Yeol;Lee, Kwon-Soon;Jeon, Gye-Rok;Chang, Yong-Hoon;Eom, Sang-Hui
    • Proceedings of the KOSOMBE Conference
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    • v.1995 no.05
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    • pp.227-229
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    • 1995
  • This paper attempts to examine an optimal method for the chromosome specific vector extraction. Usually, represented method are used with a line segmentation on a chromosome Image. It is not Inaccurate but also needs a long time for the analysis. This paper purpose to aquire specific vector in the image with a using optimal ellipse estimation method. Normally, shapes of chromosomes are curved and too difficult to analyze automatically. A chromosome has a lot of band which looks like an ellipse. If we can estimate their bands with an ellipse, we can reconstruct the sample Which Is straight and can be analyzed easily. We have rearranged a chromosome Image with above proposed. Result shows a reconstructed sample which Is simple for chromosome analysis.

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