• Title/Summary/Keyword: 1q22

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Chromosome Imbalances and Alterations of AURKA and MYCN Genes in Children with Neuroblastoma

  • Inandiklioglu, Nihal;Yilmaz, Sema;Demirhan, Osman;Erdogan, seyda;Tanyeli, Atila
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.11
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    • pp.5391-5397
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    • 2012
  • Background: Neuroblastoma (NB), like most human cancers, is characterized by genomic instability, manifested at the chromosomal level as allelic gain, loss or rearrangement. Genetics methods, as well as conventional and molecular cytogenetics may provide valuable clues for the identification of target loci and successful search for major genes in neuroblastoma. We aimed to investigate AURKA and MYCN gene rearrangements and the chromosomal aberrations (CAs) to determine the prognosis of neuroblastoma. Methods: We performed cytogenetic analysis by G-banding in 25 cases [11 girls (44%) and 14 boys (66%)] and in 25 controls. Fluorescence in situ hybridization (FISH) with AURKA and MYCN gene probes was also used on interphase nuclei to screen for alterations. Results: Some 18.4% of patient cells exhibited CAs., with a significant difference between patient and control groups in the frequencies (P<0.0001). Some 72% of the cells had structural aberrations, and only 28% had numerical chnages in patients. Structural aberrations consisted of deletions, translocations, breaks and fragility in various chromosomes, 84% and 52% of the patients having deletions and translocations, respectively. Among these expressed CAs, there was a higher frequency at 1q21, 1q32, 2q21, 2q31, 2p24, 4q31, 9q11, 9q22, 13q14, 14q11.2, 14q24, and 15q22 in patients. 32% of the patients had chromosome breaks, most frequently in chromosomes 1, 2, 3, 4, 5, 8, 9, 11, 12, 19 and X. The number of cells with breaks and the genomic damage frequencies were higher in patients (p<0.001). Aneuploidies in chromosomes X, 22, 3, 17 and 18 were most frequently observed. Numerical chromosome abnormalities were distinctive in 10.7% of sex chromosomes. Fragile sites were observed in 16% of our patients. Conclusion: Our data confirmed that there is a close correlation between amplification of the two genes, amplification of MYCN possibly contributing significantly to the oncogenic properties of AURKA. The high frequencies of chromosomal aberrations and amplifications of AURKA and MYCN genes indicate prognostic value in children with neuroblastomas and may point to contributing factors in their development.

A Study of Five Constitutions Amongst Korean High School Students Born from 1993 to 1995 (1993년부터 1995년 사이에 태어난 고등학생의 각 생년별 오운체질의 특징에 관한 연구)

  • Jin, Seng-Hee;Kim, Tae-Hee;Choi, Kyung-Mee
    • The Journal of the Society of Korean Medicine Diagnostics
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    • v.15 no.1
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    • pp.111-126
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    • 2011
  • Objectives: To characterize Five Woons in 1993, 1994 and 1995. Methods: A diagnostic questionnaire was given to 1066 High School students who were born in Korea from 1993 to 1995. One of the Five Woons was given to the participant based on his and her birthday. The oneway analysis of variance was applied to compare the means of the Five Woons in each year. Results: 1. Developed a reliable questionnaire consisting of 28 items for the purpose of chracterizing five constitutions. 2. Based on the Duncan method, significant differences were observed among the Five Woons in height, weight and BMI (p<0.1). For height, the score of Wood constitution was lowest. For weight the core of Soil constitution was lowest. 3. Based on the Duncan method, at the significant level (p<0.1), the Five Woons were different in each year (Gapsul year, Eulhae year, Gyeyoo year) for 28 items in the questionnaires: Q1, Q2,Q3, Q7, Q8, Q11, Q12, Q15, Q18, Q19, Q21, Q22, Q24, Q26, Q27 and Q28. Conclusions: Further clinical research is necessary to characterize five constitutions and also develop more delicate analyses and questionnaires. Also the diagnosis and corresponding treatments based on the Five Woons should be further studied in view of the Asian medicine.

A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism

  • Choi, Young-Jin;Shin, Eunsim;Jo, Tae Sik;Moon, Jin-Hwa;Lee, Se-Min;Kim, Joo-Hwa;Oh, Jae-Won;Kim, Chang-Ryul;Seol, In Joon
    • Clinical and Experimental Pediatrics
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    • v.59 no.2
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    • pp.91-95
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    • 2016
  • We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay. He showed mild facial dysmorphism, physical growth retardation, a hearing disability, and had a history of patent ductus arteriosus. White matter abnormality on brain magnetic resonance images was also noted. His initial routine chromosomal analysis revealed a normal 46,XY karyotype. In a microarray-based comparative genomic hybridization (aCGH) analysis, subtle copy number changes in 1q32.1-q44 (copy gain) and 18q21.33-18q23 (copy loss) suggested an unbalanced translocation of t(1;18). Repeated chromosomal analysis revealed a low-level mosaic translocation karyotype of 46,XY,der(18)t(1;18) (q32.1;q21.3)[12]/46,XY[152]. Because his parents had normal karyotypes, his translocation was considered to be de novo. The abnormalities observed in aCGH were confirmed by metaphase fluorescent in situ hybridization. We report this patient as a new karyotype presenting developmental delay, facial dysmorphism, cerebral dysmyelination, and other abnormalities.

A study on the types of unmarried single women based on their subjective perceptions on single life (독신 여성의 싱글생활에 대한 주관적 인식의 유형화 연구)

  • Wang, Seok Soon;Ryu, Kyung Hee
    • Korean Journal of Human Ecology
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    • v.22 no.6
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    • pp.615-631
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    • 2013
  • In this study, we attempt to explore various possible types of unmarried single women. Main purpose of the work is to find out possible types of unmarried single women in terms of their subjective views on single life based on Q methodology. Q methodology is a research method to study and understand people's "subjectivity" or their points of view. Here, we applied Q methodology to unmarried single women's subjective evaluation of their own lives. Thirty-one Q-questions were prepared through literature review, and were offered to eighteen unmarried single women. As a result, the subjects could be classified into the following five different types: (Type 1) 'I love my work but I hate pressure (for marriage) from others', (Type 2) 'I feel anxiety and stress (on marriage) but I am still waiting for a true love of mine', (Type 3) 'My life is most important and I'd rather enjoy my single life without restraint from others', (Type 4) 'I am weary of continuing my single life, and now I really want to get married and form a family', (Type 5) 'I don't feel comfortable with dating, marriage life etc, I'd rather continue my single life with less stress'.

RESOLVENT INEQUALITY OF LAPLACIAN IN BESOV SPACES

  • Han, Hyuk;Pak, Hee Chul
    • Journal of the Chungcheong Mathematical Society
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    • v.22 no.1
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    • pp.117-121
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    • 2009
  • For $1{\leq}p$, $q{\leq}{\infty}$ and $s{\in}\mathbb{R}$, it is proved that there exists a constant C > 0 such that for any $f{\in}B^{s+2}_{p,q}(\mathbb{R}^n)$ $${\parallel}f{\parallel}_{B^{s+2}_{p,q}(\mathbb{R}^n)}{\leq}C{\parallel}f\;-\;{\Delta}f{\parallel}_{B^{s}_{p,q}(\mathbb{R}^n)}$$, which tells us that the operator $I-\Delta$ is $B^{s+2}_{p,q}$-coercive on the Besov space $B^s_{p,q}$.

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Sex-related Differences in DNA Copy Number Alterations in Hepatitis B Virus-Associated Hepatocellular Carcinoma

  • Zhu, Zhong-Zheng;Wang, Dong;Cong, Wen-Ming;Jiang, Hongmei;Yu, Yue;Wen, Bing-Ji;Dong, Hui;Zhang, Xiao;Liu, Shu-Fang;Wang, Ai-Zhong;Zhu, Guanshan;Hou, Lifang
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.1
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    • pp.225-229
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    • 2012
  • Background: Males have a higher prevalence of hepatocellular carcinoma (HCC) than females in general, but the reasons for the sex disparity are still obscure. DNA copy number alteration (CNA) is a major feature of solid tumors including HCC, but whether CNA plays a role in sex-related differences in HCC development has never been evaluated. Methods: High-resolution array comparative genomic hybridization (CGH) was used to examine 17 female and 46 male HCC patients with chronic hepatitis B virus (HBV) infection in Shanghai, China. Two-tailed Fisher's exact or ${\chi}^2$ tests was used to compare CNAs between females and males. Results: The overall frequencies and patterns of CNAs in female and male cases were similar. However, female HCC tumors presented more copy number gains compared to those in males on 1q21.3-q22 (76.5% vs. 37.0%, P = 0.009), 11q11 (35.3% vs. 0.0%, P = 0.0002) and 19q13.31-q13.32 (23.5% vs. 0.0%, P = 0.004), and loss on 16p11.2 (35.3% vs. 6.5%, P = 0.009). Relative to females, male cases had greater copy number loss on 11q11 (63.0% vs. 17.6%, P = 0.002). Further analyses showed that 11q11 gain correlated with 19q13.31-q13.32 gain (P = 0.042), 11q11 loss (P = 0.011) and 16p11.2 loss (P = 0.033), while 1q21.3-q22 gain correlated with 19q13.31-q13.32 gain (P = 0.046). Conclusions: These findings suggest that CNAs may play a role in sex-related differences in HBVassociated HCC development.

A Study of Q$_P^{-1}$ and Q$_S^{-1}$ Based on Data of 9 Stations in the Crust of the Southeastern Korea Using Extended Coda Normalization Method (확장 Coda 규격화 방법에 의한 한국남동부 지각의 Q$_P^{-1}$, Q$_S^{-1}$연구)

  • Chung, Tae-Woong;Sato, Haruo;Lee, Kie-Hwa
    • Journal of the Korean earth science society
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    • v.22 no.6
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    • pp.500-511
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    • 2001
  • For the southeastern Korea aound the Yangsan fault we measured Q$_P^{-1}$ and Q$_S^{-1}$ simultaneously by using the extended coda-normalization method for seismograms registered at 9 stations deployed by KIGAM. We analyzed 707 seismograms of local earthquakes that occurred between December 1994 and February 2000. From seismograms, bandpass filtered traces were made by applying Butterworth filter with frequency-bands of 1${\sim}$2, 2${\sim}$4, 4${\sim}$8, 8${\sim}$16 and 16${\sim}$32 Hz. Estimated Q$_P^{-1}$ and Q$_S^{-1}$ values decrease from (7${\pm}$2)${\times}$10$^{-3}$ and (5${\pm}$4)${\times}$10$^{-4}$ at 1.5 Hz to (5${\pm}$4)${\times}$10$^{-3}$ and (5${\pm}$2)${\times}$10$^{-4}$ at 24 Hz, respectively. By fitting a power-law frequency dependent to estimated values over the whole stations, we obtained 0.009 (${\pm}$0.003)f$^{-1.05({\pm}0.14)$ for Q$_P^{-1}$ and 0.004 (${\pm}$0.001)f$^{-0.75({\pm}0.14)$) for Q$_S^{-1}$, where f is frequency in Hz.

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A Case of 18q-Deletion Syndrome with Hydronephrosis and Anhydrosis (요로계 기형과 무한증을 동반한 18번 염색체 장완 결손 증후군 1례)

  • Kim, Mun Hee;Yoo, Kee Hwan;Hong, Young Sook;Kim, Soon Kyum
    • Clinical and Experimental Pediatrics
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    • v.45 no.5
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    • pp.711-715
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    • 2002
  • The 18q-syndrome is a deletion disorder that occurs in humans. Clinical symptoms are mental retardation, craniofacial anomalies, skeletal deformity, seizure, and hearing loss. 18q- deletion occurs over a broad region, spanning the interval from 18q22.2 to 18qter rather than a single critical region containing 18q. We experienced a case of 18q-syndrome in a male child. It was diagnosed by clinical and chromosomal study. He was a 15month-old infant who was admitted because of prolonged fever and vomiting. And he manifested a depressed midface, esotropia, anhydrosis, and developmental delay. Peripheral blood chromosome studies showed deleted chromosomal material at the distal part of the long arm of chromosome 18. He showed right hydronephroureterosis on IVP. So, he was diagnosed as 18q-syndrome with right hydronephroureterosis and anhydrosis. We report this syndrome with a review and related literature.

Replication of the Association of the 6q22.31c Locus near GJA1 with Pulse Rate in the Korean Population

  • Kim, Nam-Hee;Kim, Young-Jin;Oh, Ji-Hee;Cho, Yoon-Shin
    • Genomics & Informatics
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    • v.10 no.2
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    • pp.106-109
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    • 2012
  • Pulse rate is known to be related to diverse phenotypes, such as cardiovascular diseases, lifespan, arrhythmia, hypertension, lipids, diabetes, and menopause. We have reported two genomewide significant genetic loci responsible for the variation in pulse rate as a part of the Korea Association Resource (KARE) project, the genomewide association study (GWAS) that was conducted with 352,228 single nucleoride polymorphisms typed in 8,842 subjects in the Korean population. GJA1 was implied as a functionally causal gene for pulse rate from the KARE study, but lacked evidence of replication. To re-evaluate the association of a locus near GJA1 with pulse rate, we looked up this signal in another GWAS conducted in a Health Examinee-shared cohort of 3,703 samples. Not only we were able to confirm two pulse rate loci (1q32.2a near CD46 and 6q22.13c near LOCL644502) identified in the KARE GWAS, we also replicated a locus (6q22.31c) near GJA1 by the lookup in the Health Examinee GWAS. Considering that the GJA1-encoded protein is a major component of cardiac gap junctions, a functional study might be necessary to validate its genuine molecular biological role in the synchronized contraction of the heart.

Distributional Pattern of tetQ and aacC2 genes in Stream Water (하천에서 tetQ와 aacC2 유전자의 분포 양상)

  • 정재성;이영종;김종홍
    • The Korean Journal of Ecology
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    • v.22 no.5
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    • pp.305-309
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    • 1999
  • The occurrence of tetQ and aacC2 genes encoding tetracycline and gentamicin resistance determinant, respectively, was assessed in total bacterial community DNA isolated from Dongchon stream of Sunchon area. To examine the resistance potential of bacteria that were not cultured, total DNA from 1 liter of stream water was extracted by freeze-thaw method. The PCR technique was employed to determine the abundance of the target genes. The highest frequency of tetQ gene was obtained from site 1, located near the animal farms area, whereas the incidence of aacC2 was highest in site 5, the downstream area. These results showed that the occurrence of antibiotic resistance gene may be used as a convenient marker of water quality related to source.

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