• Neonatal Medicine
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• 제17권1호
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• pp.127-131
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• 2010

저자들은 저긴장증과 다발성 선천성 기형을 보인 신생아에서 염색체 검사 및 FISH로 확인된, 부계의 균형적 전좌에 의한 Emanuel 증후군 1례를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제48권7호
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• pp.701-705
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• 2005

목 적 : 부모에게서 받은 유전정보는 자손의 유전표현에 필수적인 역할을 한다. 만일 어머니나 아버지로부터 받는 유전자가 서로 전좌가 일어날 경우 자손에게 부여되는 유전정보는 충분하지 않거나 필요이상으로 많이 받게 되어 자손에게 임상적 문제점을 일으킬 수가 있다. 임상적으로 정상인 부모로부터 태어나 정신발달이상과 행동발달지연을 보인 한 가족의 세포 유전학적인 연구와 임상 소견들을 관찰하여 원인규명과 앞으로의 예후를 평가할 목적으로 이 연구를 실시하였다. 방 법 : 대상 환아는 충남대학교병원 소아과에 입원한 11세의 여아와 가족의 총 5명으로 하였다. 환자의 병력청취와 이학적 검사, 가족력조사를 시행하였으며 원인을 밝히기 위하여 염색체 분석, FISH, 대사질환 분석, 정신 사회학적 검사인 소아정신과 상담과 치료받은 기록 및 사회성숙도 검사, 심리평가, EEG를 실시하였고, 성장발달검사를 위해 혈액검사와 방사선학적 검사, 내분비 검사를 시행하였다. 결 과 : 염색체 검사는 환아의 아버지와 언니는 정상이었고 환아의 어머니는 임상적으로 정상이었지만, 46, XX. t(15,18)(p11.2;p11.3)을 보였고, 남동생은 복부비만, 과식, 난폭한 행동, 괴성, 주의력 산만, 학습장애, 언어 발달 지연 등의 임상 소견을 보이면서 46, XY der(15) t(15;18)(p11.2;p11.3)이며 환아는 46, XX. der(18) t(15;18)(p11.2;p11.3)로 대사이상 검사상 미토콘드리아 기능 저하를 의심할 수 있는 소견과 내분비 검사상 성장호르몬 결핍소견을 보였고, 운동 및 신경정신과적 발달 검사상 행동발달 지연, 언어발달 지연, 사회성 발달지연 및 중등도의 정신 지체를 보였다. 결 론 : 정상인 아버지와 임상적으로 정상이면서 균형전좌(balanced translocation)인 46, XX. t(15,18)(p11.2;p11.3)를 갖는 어머니로부터 태어난 자녀들이 염색체 15번 장완과 18번 장완의 비균형 전좌(unbalanced translocation)로 인해 이형성(dysmorphogenesis)을 유발하고, 뇌의 전반적인 기능저하, 얼굴 모양의 기형, 성장지연, 면역력의 저하 등 다양한 임상소견을 보임을 알 수 있었다.

• Clinical and Experimental Reproductive Medicine
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• 제21권1호
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• pp.131-135
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• 1994

A 27-year-old pregnant woman who had one son with mental and growh retardation and dysmorphic features, was referred for genetic counselling. Cytogenetic investigations revealed 4/22 translocation in the mother(46, XX, t(4;22)(p14;P11)), partial trisomy 4p in son(46, XY, -22, +der(22), t(4;22)(p14;p11)mat). The father had normal karyotype. Amniocentesis and chorionic villi sampling were performed in 3 successive pregnancies. The karyotypes of fetus in 3rd, 4th pregnancies by amniocentesis were 46, XX, t(4;22)(p14;p11) and 46, XX, t(4;22) (p14;p11), and the karyotype of fetus in 5th pregnancy by chorionic villi sampling was found to be 46, XX, -22, +der(22) t(4;22)(p14;p11)mat. We report 3 succesive prenatally diagnosed familial partial trisomy 4p and 4/22 translocation of maternal origin with review of literature.

• Asian Pacific Journal of Cancer Prevention
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• 제16권9호
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• pp.3793-3797
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• 2015

Background: Chronic myeloid leukemia (CML) is a myeloproliferative disorder of pluripotent stem cells, caused by reciprocal translocation between the long arms of chromosomes 9 and 22, t(9;22)(q34;q11), known as the Philadelphia chromosome. Materials and Methods: A total of 51 CML patients were recruited in this study. Complete blood counts of all CML patients were performed to find out their total leukocytes, hemoglobin and platelets. FISH was performed for the detection of BCR-ABL fusion and cryptogenic tests using bone marrow samples were performed for the conformation of Ph (9;22)(q34;q11) and variant translocation mechanisms. Results: In cytogenetic analysis we observed that out of 51 CML patients 40 (88.9%) were Ph positive and 4 (8.88%) had Ph negative chromosomes. Mean values of WBC 134.5 $10^3/{\mu}l$, hemoglobin 10.44 mg/dl, and platelets 288.6 $10^3/{\mu}l$ were observed in this study. Conclusions: In this study, Ph positive translocation between chromosome (9:22)(q34;q11) were observed in 40 (88.9%) CML patients.

• Investigative Magnetic Resonance Imaging
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• 제17권1호
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• pp.41-46
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• 2013

신세포암의 여러 종류 중 Xp11.2 염색체 재배열/TFE3 유전자 융합 연관 신세포암은 드물며 소아나 젊은 성인에서 더 흔한 것으로 알려져 있다. 이 증례보고는 병리학적으로 확인된 4세 남자 환자의 Xp11.2 염색체 재배열/TFE3 유전자 융합 연관 신세포암에 대한 것이다. 본 증례에서 종양은 컴퓨터 단층 촬영에서 우측 신장에 2.5 cm 크기의 경계가 불명확한 종괴로 보였으며, 초음파상 고에코 병변으로 보였다. 자기공명영상에서는 종괴 캡슐의 조영증강과 함께 종괴의 확산 제한이 보였다. 저자들은 이 드문 신세포암의 영상 소견에 대해 증례를 보고하고 문헌을 고찰하는 바이다.

• Journal of Genetic Medicine
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• 제9권1호
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• pp.35-37
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• 2012

Emanuel syndrome is a rare genomic syndrome which is characterized by multiple congenital anomalies and developmental disability. This syndrome is related to the presence of the supernumerary derivative chromosome originating from both chromosome 11 and 22. In most cases, one of the parents is a balanced carrier of a translocation. Our case results from 3:1 meiotic segregation of the maternal translocation carrier and is a rare case in Korea confirmed by genetic analysis.

• 농약과학회지
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• 제2권1호
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• pp.1-11
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• 1998

The generally accepted idea for carbohydrate translocation in plants is an osmotic pressure flow hypothesis. According to the hypothesis, a high concentration of carbohydrate in the phloem of carbohydrate synthesis regions (source) causes a water influx into the phloem. The generated osmotic potential in the phloem is responsible for long distance carbohydrate transport through the positive hydrostatic pressure. In regions of carbohydrate utilization and storage (sink), translocated carbohydrates are continuously metabolized and compartmentalized, generating a concentration gradient between source and sinks. In this system, carbohydrates load into the phloem (phloem loading) and unload out of the phloem (phloem unloading). Phloem-mobile herbicides that are applied to plants are also translocated from the source to sinks. However, some experimental results reveal that the patterns of phloem translocation between carbohydrates and herbicides are different. The differences are due, in part, to the physico-chemical properties of herbicides and to the absence/presence of specific carrier(s) in the phloem.

• Asian-Australasian Journal of Animal Sciences
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• 제12권2호
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• pp.180-185
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• 1999

Effects of host immunization on bacterial translocation and growth performance in weanling piglets were studied. Twenty four barrows were assigned to one of two immunization treatments: Control group (CON: immunized with placebo) or Immunization group [IMMU: immunized with Antigen cocktail; Keyhole limpet hemocyanin (KLH), Ovalbumin (OA), and Tetanus toxoid (TT)]. On d0, piglets were weaned and intramuscularly immunized with 2 ml of placebo or Antigen cocktail, respectively. Antigen-specific Ig titers were determined by ELISA (Enzyme Linked ImmunoSorbent Assay). Ig titers to E. coli-derived lipopolysaccharides (LPS) were measured as the indicator of bacterial translocation. Ig titers to LPS were higher (p<0.10, 0.05 or 0.01) in CON group before immunization (d0), but the difference disappeared with time and IgA titers to LPS became higher (p<0.05) in IMMU group on d39. In IMMU group, IgG titers to LPS from d28 onwards showed positive correlations (p<0.10, 0.05, 0.01 or 0.001) with IgG titers to KLH from d11 onwards and with IgM titers to KLH from d7 onwards. Generally, growth performance was negatively related to IgG titers to LPS. Average daily gain for d28 to d35 showed negative correlations (p<0.10, 0.05, or 0.01) with IgG titers to LPS on d28 onwards in immunization group. These results reveal some evidences that host immunization might facilitate bacterial translocation and high humoral immune responses to LPS are negatively related with the growth performance.

• 한국가축번식학회지
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• 제15권2호
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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.

• Journal of Microbiology and Biotechnology
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• 제14권1호
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• pp.128-133
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• 2004

The secretion capacity of two E. coli strains (JM109 and AF1000) was evaluated through the expression of two human proinsulin fusion proteins using the translocation signal sequence from Staphylococcal protein A (SpA). Although a 7 to 11-fold difference in the expression levels was attained by the use of different promoters (SpA and malK promoters) and copy-number vectors (700 and 50 copies per cell), the maximum translocation rates for all the systems were around 140,000 amino acids $cell^{-1} min^{-1}$. Moreover, the secretion capacity was found to be independent of the size of the exiting peptide and its translational rate.