• Journal of Genetic Medicine
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• 제4권1호
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• pp.80-83
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• 2007

고리염색체(Ring chromosome)는 매우 낮은 빈도로 발견되는 염색체 이상으로 모든 번호에서 보고되고 있으며 특히 끝곁 매듭 염색체(acrocentric chromosome)에서 빈번하게 관찰 된다. 본 증례는 ring chromosome(고리염색체)11의 산전진단에 관한 것이다. 산모는 36세의 여성으로 모체혈청검사에서 에드워드 증후군의 표시인자가 증가되어, 태아의 염색체 검사를 위해 임신 19.5주에 양수천자술을 시행하였다. 결과는 46,XX,r(11)[65]/45,XX,-11[16]/46,XX[34]로 고리염색체(ring chromosome) 11이 mosaic으로 관찰되었다. 혈액을 이용한 부모 염색체 검사는 모두 정상이었다. 임신 20주에 실시된 정밀초음파 검사에서는 자궁내성장장애(IUGR) 소견을 보였다. 모자익시즘의 확인을 위해 임신 22주에 재대 혈액을 이용한 두번째 염색체 검사 결과는 46,XX,r(11)(p15.5q24.2)[229]/45,XX,-11 [15]이었으며 첫번째 검사에서 관찰되지 않았던 다양한 형태의 고리염색체(ring chromosome)가 소수의 세포에서 관찰되었다. 고리염색체(ring chromosome)11에 대한 FISH 검사에서는 11 염색체의 장완과 11 염색체의 단완의 subtelomeric 부위가 결실되어 있었다.

• Clinical and Experimental Pediatrics
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• 제46권3호
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• pp.291-294
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• 2003

21번 환 염색체는 심한 기형에서부터 정상에 이르기까지 다양한 표현형을 보인다. 저자들은 발달 지연과 다발성 선천성 기형을 가진 환자에서 말초혈액 염색체 검사상 21번 염색체 장완의 결실이 동반된 21번 환 염색체를 경험하였기에 이에 문헌 고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제57권7호
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• pp.333-336
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• 2014

Reports of constitutional ring chromosome 22, r(22) are rare. Individuals with r(22) present similar features as those with the 22q13 deletion syndrome. The instability in the ring chromosome contributes to the development of variable phenotypes. Central nervous system (CNS) atypical teratoid rhabdoid tumors (ATRTs) are rare, highly malignant tumors, primarily occurring in young children below 3 years of age. The majority of ATRT cases display genetic alterations of SMARCB1 (INI1/hSNF5 ), a tumor suppressor gene located on 22q11.2. The coexistence of a CNS ATRT in a child with a r(22) is rare. We present a case of a 4-month-old boy with 46,XY,r(22)(p13q13.3), generalized hypotonia and delayed development. High-resolution microarray analysis revealed a 3.5-Mb deletion at 22q13.31q13.33. At 11 months, the patient had an ATRT ($5.6cm{\times}5.0cm{\times}7.6cm$) in the cerebellar vermis, which was detected in the brain via magnetic resonance imaging.

• Journal of Radiation Protection and Research
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• 제17권1호
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• pp.21-30
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• 1992

KCCH cyclotron neutron(30cCy/min) 및 $^{60}Co\;{\gamma}-ray(210cGy/min)$를 시험관내의 정상인체 말초혈액임파구에 조사하여 염색체이상(dicentric 및 centric ring)을 관찰하고 이의 선량-반응관계식을 linear model$(Y=K_1D+a)$, power-law model$(Y=K_2D^n)$, quadratic model$(Y=K_3D^2)$ 및 linear-quadratic model$(Y={\alpha}D+{\beta}D^2)$을 사용하여 구하고 이들 model중 염색체이상의 측정치와 가장 일치하는 관계식을 근거로 하여 ${\gamma}-ray$에 대한 neutron의 relative biological effectiveness (RBE)를 산출하였다. 염색체 이상(dicentric plus centric ring)의 발생분포는 ${\gamma}-ray$의 경우 linear model(P=0.067)을 제외한 power-law model$[Y=(5.81{\pm}1.96){\times}10^6D^{1.93+0.06},\;P=0.931]$, quadratic model$[Y=(3.91{\pm}0.09){\times}10^{-6}D^2,\;P=0.972]$ 및 linear-quadratic model $[Y=(6.55{\pm}6.83){\times}10^{-5}D+(3.72{\pm}0.22){\times}10^{-6}D^2$ P=0.922]에 적합하였다 neutron의 경우 linear model $(Y=(6.12{\pm}0.17){\times}10^{-3}\;D-0.22,\;P=0.987]$에 가장 일치하였고 quadratic model (P<0.005)을 제외한 power-law model $[Y=(5.36{\pm}3.02) {\times}10^{-4}D^{1.42+0.11},\;P=0.601]$ 및 linear-quadratic model $[Y=(2.43{\pm}0.70){\times}10^{-3}D+(1.21{\pm}0.39){\times}10^{-7}D^2,\;P=0.415]$에 비교적 적합하였다. 세포당 0.1-1.5개의 염색체이상을 나타내는 neutron의 ${\gamma}-ray$에 대한 RBE는 $2.714{\pm}0.408$이었다.

• 한국작물학회:학술대회논문집
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• 한국작물학회 2022년도 추계학술대회
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• pp.25-25
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• 2022

Drought becomes frequent and severe because of continuous global warming, leading to a significant loss of crop yield. In soybean (Glycine max [L.]), most of quantitative trait loci (QTLs) analyses for drought tolerance have conducted by investigating yield changes under water-restricted conditions at the reproductive stages. More recently, the necessity of QTL studies to use physiological indices responding to drought at the early growth stages besides the reproductive ones has arisen due to the unpredictable and prevalent occurrence of drought throughout the soybean growing season. In this study, we thus identified QTLs conferring wilting scores and moisture contents of soybean subjected to drought stress in the early vegetative stage using an recombinant inbred line (RIL) population derived from a cross between Taekwang (drought-sensitive) and SS2-2 (drought-tolerant). For the two traits, the same major QTL was located on chromosome 10, accounting for up to 11.5% of phenotypic variance explained with LOD score of 12.5. This QTL overlaps with a reported QTL for the limited transpiration trait in soybean and harbors an ortholog of the Arabidopsis ABA and drought-induced RING-D UF1117 gene. Meanwhile, one of important features of plant drought tolerance is their ability to limit transpiration rates under high vapor pressure deficiency in response to mitigate water loss. However, monitoring their transpiration rates is time-consuming and laborious. Therefore, only a few population-level studies regarding transpiration rates under the drought condition have been reported so far. Via employing an Arduino-based platform, for the reasons addressed, we are measuring and recording total pot weights of soybean plants every hour from the 1^st day after water restriction to the days when the half of the RILs exhibited permanent tissue damage in at least one trifoliate. Gradual decrease in moisture of soil in pots as time passes refers increase in the severity of drought stress. By tracking changes in the total pot weights of soybean plants, we will infer transpiration rates of the mapping parents and their RILs according to different levels of VPD and drought stress. The profile of transpiration rates from different levels of severity in the stresses facilitates a better understanding of relationship between transpiration-related features, such as limited maximum transpiration rates, to water saving performances, as well as those to other drought-responsive phenotypes. Our findings will provide primary insights on drought tolerance mechanisms in soybean and useful resources for improvement of soybean varieties tolerant to drought stress.