• Journal of Interdisciplinary Genomics
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• 제4권2호
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• pp.24-30
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• 2022

Klinefelter's syndrome (KS) is a syndrome with extra X chromosome(s), in XY individuals, characterized by gynecomastia, small testes, and infertility. Additional X chromosomes can be present as variable karyotypic forms, including mosaicism (47,XXY/46,XY). The reported prevalence of KS ranges from one in 500 to one in 1,000 live males, but is probably underestimated. The classic phenotype is small, firm testes and infertility resulting from seminiferous tubule dysgenesis and androgen deficiency. The spectrum of KS includes tall stature with relatively long legs and arm span, decreased body hair, learning disabilities, behavioral problems, poor motor skills, and other important medical issues, such as metabolic syndrome, diabetes, autoimmune diseases, cardiovascular disease, certain neoplasia. The increased risk of certain medical problems in KS can be attributed to a direct effect of the extra X chromosome, the combined action of multiple genomic and epigenetic factors, or the hormonal imbalances. Typically, chromosome analysis is not ordered for adult patients with general medical conditions, except for suspected cases of hematologic and lymphoid disorders. Even though it was found during work-up for certain disorders in adult patient, most physicians do not suspect KS or consider its impact. Therefore, understanding the pathophysiology and variable manifestation in KS is necessary, and discussions with multidisciplinary teams will help to diagnose and treat males with KS.

• 한국작물학회지
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• 제42권4호
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• pp.392-402
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• 1997

듀럼밀(Triticum durum var. hordeiforme 2n=28 AABB)에서 trisomics(2n=28＋1)을 육성하여 외부형태적 형질에 발현되는 양적효과를 조사하였다. Trisomics은 각각의 잉여염색체에 존재하는 유전자의 상호작용에 의해서 외부형태적 형질에 정상식물과 명백히 상이한 양적효과를 나타내었다. 그러나 A및 B의 양 genome에 속하는 동조염색체간에는 서로 유사한 특성을 나타내어 상호 구별짓기가 매우 어려웠다. 이와 같은 현상으로 부터 몇몇의 외부형질에 관여하는 주동유전자의 염색체위치는 동조염색체상에 존재하고 있음이 시사되었으며, 이들은 같은 역할을 하는 동조유전자인 것으로 밝혀졌다. 따라서 듀럼밀의 동조성 및 연관군이 동시에 해명된 것으로 보여지며, 본 trisomics은 밀속의 A및 B genome의 각각의 염색체에 관한 유전분석 및 유전자지도 작성을 위한 연구재료로서 유익할 것이다. 또한 빵밀(Triticum aesitivum AABBDD)의 선조종인 듀럼밀(T. durum AABB)과 타루호밀(T. squarrosa DD)의 진화과정 및 비교유전분석상 매우 중요한 소재로서 이용될 것이다.

• Journal of Genetic Medicine
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• 제11권1호
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• pp.16-21
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• 2014

A 31-year-old woman, who was pregnant with twins, underwent chorionic villus sampling because of increased nuchal translucency in one of the fetuses. Cytogenetic analysis showed a normal karyotype in the fetus with increased nuchal translucency. However, the other fetus, with normal nuchal translucency, had a derivative X chromosome (der(X)). For further analysis, fluorescence in situ hybridization (FISH) and additional molecular studies including fragile X analysis were performed. FISH analysis confirmed that the Y chromosome was the origin of extra segment of the der(X). The X-chromosome breakpoint was determined to be at Xq27 by FMR1 CGG repeat analysis, and the Y-chromosome breakpoint was determined to be at Yq11.23 by the Y chromosome microdeletion study. To predict the fetal outcome, the X-inactivation pattern was examined, and it revealed non-random X inactivation of the der(X). To the best of our knowledge, the identification of an unbalanced Xq;Yq translocation at prenatal diagnosis has never been reported. This study was performed to identify precise breakpoints and the X-inactivation pattern as well as to provide the parents with appropriate genetic counseling.

• Genomics & Informatics
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• 제17권3호
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• pp.27.1-27.9
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• 2019

Supernumerary B chromosomes were found in Lilium amabile (2n = 2x = 24), an endemic Korean lily that grows in the wild throughout the Korean Peninsula. The extra B chromosomes do not affect the host-plant morphology; therefore, whole transcriptome analysis was performed in 0B and 1B plants to identify differentially expressed genes. A total of 154,810 transcripts were obtained from over 10 Gbp data by de novo assembly. By mapping the raw reads to the de novo transcripts, we identified 7,852 differentially expressed genes (log₂FC > |10|), in which 4,059 and 3,794 were up-and down-regulated, respectively, in 1B plants compared to 0B plants. Functional enrichment analysis revealed that various differentially expressed genes were involved in cellular processes including the cell cycle, chromosome breakage and repair, and microtubule formation; all of which may be related to the occurrence and maintenance of B chromosomes. Our data provide insight into transcriptomic changes and evolution of plant B chromosomes and deliver an informative database for future study of B chromosome transcriptomes in the Korean lily.

• Journal of Genetic Medicine
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• 제2권2호
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• pp.71-77
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• 1998

Comparative genomic hybridization (CGH) can now be applied to detect the origin of extra or missing chromosomal material in cases with common unbalanced aberrations and in prenatal investigations. This method has been used in 13 cases of fetal samples for this study; 3 for amniocytes, 2 for cord blood and 8 for abortus tissues. These samples were previously subjected to GTG-banding. Our study showed aneuploidy in 8 cases, and partial monosomy, partial trisomy or marker chromosome in the remaining 5. The CGH disclosed further small genetic imbalances in 4 of all 13 cases: a prenatal sample showing del(20)(q13) by GTG confirmed a loss of the segment 20p13-pter by CGH; a marker chromosome manifested normal CGH profile; chromosome der(?)(?;15) found in an abortus sample by GTG turned out to be a loss of 15pter-q14 (partial monosomy) and a gain of 10pter-q22 (partial trisomy); the der(15) shown by GTG represented partial trisomy of 3q24-qter. These findings show that CGH is very useful and efficient for cytogenetic investigations of clinical cases.

• Journal of Genetic Medicine
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• 제14권1호
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• pp.18-22
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• 2017

Pseudohypoparathyroidism type 1b (PHP 1b) is the result of end organ resistance to parathyroid hormone (PTH) in the absence of any features of Albright's hereditary osteodystrophy. There are two subtypes of PHP 1b with different genetic mechanisms. One subtype is related to a maternally derived 3kb microdeletion involving STX 16 gene, and is inherited in an autosomal dominant mode. Familial autosomal dominant inheritance of PHP 1b is relatively rare. The other subtype is associated with more extensive loss of imprinting at the GNAS locus that affects at least one additional differential methylated (hypermethylation at neuroendocrine secretory protein and hypomethylation at antisense transcript and or extra-large stimulatory G protein region) without microdeletion of the STX 16 or AS gene. It can be sporadic due to an imprinting defect in the GNAS gene. In our case, an 8-year-old girl was referred for suspected PHP with no feature of Albright hereditary osteodystrophy. Blood test results revealed hypocalcemia and hyperphosphatemia. Elevated PTH was also checked. There was no family history of endocrine or developmental problem. Her intelligence was normal, but she had inferior sociability at that time. Based on above, we diagnosed a rare case of paternal uniparental disomy of the long arm of chromosome 20 as the cause of PHP 1b by microsatellite marker test of chromosome 20.

• 한국자원식물학회지
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• 제8권1호
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• pp.47-54
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• 1995

맥각병은 맥류의 중요 병해로 이삭에 발생해서 종자형성을 저해하고, 이삭의 성숙정도에 따라서 종자보다 훨씬 큰 맥각을 형성하는병해이다. 따라서 마카로니밀의 trisomics을 이용하여 맥각병에 대한 라병정도와 염색체와의 관계를 구명하기 위하여, 출수 2~3일전의 이삭에 접종하였다. 1)개화직전의 소화에 맥각병의 분생포자액을 주입접한한 결과, 각 계통별로 90.0%~100.0%의 감염률을 나타냈고, 11.6%(Tri-6A)~83.4%(Tri-4A)의 균핵(맥각) 형성률을 보여, 완전한 면역성계통은 존재하지 않았다. 2)개화중인 소화에 분\ulcorner접종한 결과, 0%(Tri-6A)~83.4%(Tri-3A)의 맥각형성률를 나타내어, 주사접종에 비해 저하하는 현상을 보였다. 3)맥가의 성장상에 관해서 조사하였더니, 6A 염색체가 여분으로 존재하는 trisomics에서는 영외까지 성장한 맥각은 전혀 인정되지 않았다. 따라서 6A 염색체상에는 맥각에 생장을 억제하는 유전자가 존재하는것으로 추정되었다. 따라서 이 계통은 맥각병에 대한 내병성 밀육종에 도움이 될 것이다. 4) 2A, 4A 및 7B 염색체를 여분으로 갖고 있는 trisomics에서는 비교적 큰 맥각을 형성하여 2A, 4A 및 7B염색체상에는 맥각의 생장촉진 조절유전자가 위치하고 있는 것으로 추정되었다. 따라서 이것으리 3계통은 약용맥각생산용의 밀육종에 기초적 역할을 다할 것이다. 5) 이와같이 맥각병의 리병정도에 관흥하는 유전자가 염색체상에 존재하고 있는 것이 확실하게 밝혀졌다. 그러나 맥각병은 감염해서부터 발병할 때까지는 많은 일수를 필요로 하는 특미를 가지고 있으므로, 맥각병에 대한 본질적인 저항성 및 리병성 유전자라기 보다도 식물생육과정에서 병원균의 발병(발육)을 조절하는 생리적작용에 관계하고 있는 유전자의 역할이라고 은료되었다.

• Journal of Genetic Medicine
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• 제16권2호
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• pp.76-80
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• 2019

About 15% to 20% of all clinically recognized pregnancies result in spontaneous abortion or miscarriage, and chromosomal anomalies can be identified in up to 50% of first trimester miscarriages. Chromosomal microarray analysis (CMA) is currently considered first-tier testing for detecting fetal chromosomal abnormalities and is supported by the absence of cell culture failure or erroneous results due to cell contamination in pregnancy loss. Triploidy is a lethal chromosome number abnormality characterized by an extra haploid set of chromosomes. Triploidy is one of the most common chromosomal aberrations in first trimester spontaneous abortions. Here, we report two cases of triploidy abortion that were not detected using array comparative genomic hybridization-based CMA. The aim of this report was to remind clinicians of the limitations of chromosomal testing and the misdiagnosis that can result from biased test selection.

• 전기학회논문지
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• 제59권1호
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• pp.184-191
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• 2010

Many researchers have been considering genetic algorithms to system optimization problems. Especially, real-coded genetic algorithms are very effective techniques because they are simpler in coding procedures than binary-coded genetic algorithms and can reduce extra works that increase the length of chromosome for wide search space. Thus, this paper presents a fuzzy system design technique to improve the performance of the fuzzy system. The proposed system consists of two procedures. The primary tuning procedure coarsely tunes fuzzy sets of the system using the k-means clustering algorithm of which the structure is very simple, and then the secondary tuning procedure finely tunes the fuzzy sets using enhanced real-coded genetic algorithms based on the primary procedure. In addition, this paper constructs multiple fuzzy systems using a data preprocessing procedure which is contrived for reflecting various characteristics of nonlinear data. Finally, the proposed fuzzy system is applied to the field of time series prediction and the effectiveness of the proposed techniques are verified by simulations of typical time series examples.

• BMB Reports
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• 제42권1호
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• pp.6-15
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• 2009

The most common genetic disorder Down syndrome (DS) displays various developmental defects including mental retardation, learning and memory deficit, the early onset of Alzheimer's disease (AD), congenital heart disease, and craniofacial abnormalities. Those characteristics result from the extra-genes located in the specific region called 'Down syndrome critical region (DSCR)' in human chromosome 21. In this review, we summarized the recent findings of the DYRK1A and RCAN1 genes, which are located on DSCR and thought to be closely associated with the typical features of DS patients, and their implication to the pathogenesis of neural defects in DS. DYRK1A phosphorylates several transcriptional factors, such as CREB and NFAT, endocytic complex proteins, and AD-linked gene products. Meanwhile, RCAN1 is an endogenous inhibitor of calcineurin A, and its unbalanced activity is thought to cause major neuronal and/or non-neuronal malfunction in DS and AD. Interestingly, they both contribute to the learning and memory deficit, altered synaptic plasticity, impaired cell cycle regulation, and AD-like neuropathology in DS. By understanding their biochemical, functional and physiological roles, we hope to get important molecular basis of DS pathology, which would consequently lead to the basis to develop the possible therapeutic tools for the neural defects in DS.