• Title/Summary/Keyword: 9q31.3

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Searching for the Missing Kallmann Syndrome Gene at 9q31.3

  • Hyung-Goo Kim;Sang Hoon Lee;Lawrence C. Layman;Mi-Hyeon, Jang
    • Journal of Interdisciplinary Genomics
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    • v.6 no.2
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    • pp.21-24
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    • 2024
  • The disease gene for delayed puberty is hypothesized to reside within a 3.7 Mb genomic region on chromosome 9, spanning 9q31.2 to 9q31.3, which contains 20 genes. This region aligns with 9q31.3, where the Kallmann syndrome gene is suspected to be located in a patient with a de novo balanced translocation, t(7;9)(p14.1;q31.3). After analyzing the expression patterns and reported genetic variants of the 20 candidate genes, we propose ACTL7A and ACTL7B as strong candidate genes for Kallmann syndrome. Mutation screening of these genes in Kallmann syndrome patients will be essential to confirm their pathological roles in delayed puberty.

GENETIC ALTERATIONS OF HUMAN ORAL CANCERS USING COMPARATIVE GENOMIC HYBRIDIZATION (Comparative genomic hybridization 기법을 이용한 인체 구강암의 유전자 변화에 대한 연구)

  • Lee, Myeong-Reoyl;Shim, Kwang-Sup;Lee, Young-Soo;Woo, Soon-Seop;Kong, Gu
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.26 no.3
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    • pp.245-253
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    • 2000
  • The development and progression of oral cancer is associated with an accumulation of multiple genetic alterations through the multistep processes. Comparative genomic hybridization(CGH), newly developed cytogenetic and molecular biologic technique, has been widely accepted as a useful method to allow the detection of genetic imbalance in solid tumors and the screening for chromosome sites frequently affected by gains or losses in DNA copy number. The authors examined 19 primary oral squamous cell carcinomas using CGH to identify altered chromosome regions that might contain novel oncogenes and tumor suppressor genes. Interrelationship between these genetic aberrations detected and major oncogenes and tumor suppressor genes previously recognized in carcinogenesis of oral cancers was studied. 1. Changes in DNA copy number were detected in 14 of 19 oral cancers (78.9%, mean: 5.58, range: $3{\sim}13$). High level amplification was present in 4 cases at 9p23, $12p21.1{\sim}q13.1$, 3q and $8q24{\sim}24.3$. Fourteen cases(78.9%, mean: 3.00, range: $1{\sim}8$) showed gains of DNA copy number and 12 cases(70.5%, mean: 2.58, range: $1{\sim}9$) revealed losses of DNA copy number. 2. The most common gains were detected on 3q(52.6%), 5p(21.0%), 8q(21.0%), 9p(21.0%), and 11q(21.0%). The losses of DNA copy number were frequently occurred at 9p(36.8%), 17q(36.8%), 13q(26.3%), 4p(21.0%) and 9p(21.0%). 3. The minimal common regions of gains were repeatedly observed at $3q24{\sim}26.7$, $3q27{\sim}29$, $1q22{\sim}31$, $5p12{\sim}13.3$, $8q23{\sim}24$, and 11q13.1-13.3. The minimal common regions of losses were detected at $9q11{\sim}21.3$, 17p31, $13q22{\sim}34$, and 14p16. 4. In comparison of CGH results with tumor stages, the lower stage group showed more frequent gain at 3q, 5q, 9p, and 14q, whereas gains at 1q($1q22{\sim}31$) and 11q($11q13.1{\sim}13.3$) were mainly detected in higher stage group. The loss at $13q22{\sim}34$ was exclusively detected in higher stage. The results indicate that the most frequent genetic alterations in the development of oral cancers were gains at $3q24{\sim}26.3$, $1q22{\sim}31$, and $5p12{\sim}13.3$ and losses at $9q11{\sim}21.3$, 17p31, and 13q. It is suggested that genetic alterations manifested as gains at $3q24{\sim}26.3$, $3q27{\sim}29$, $5p12{\sim}13.3$ and 5p are associated with the early progression of oral cancer. Gains at $1q22{\sim}31$ and $11q13.1{\sim}13.3$ and loss at 13q22-34 could be involved in the late progression of oral cancers.

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Forest Vegetation Structure of Kongju National University Forests(Seokjangri-dong) (공주대학교 학술림(석장리동 일대)의 산림식생구조)

  • Kim, Ho-Jin;Song, Ju-Hyeon;Lee, Jung-Eun;Yun, I-Seul;Yun, Chung-Weon
    • Korean Journal of Environment and Ecology
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    • v.34 no.6
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    • pp.573-588
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    • 2020
  • The study investigated the forest vegetation structure of Kongju National University Forests in the vicinity of Seokjangri-dong to provide the information needed for efficient use and management. It conducted a Z-M phytosociological vegetation survey in 60 quadrate plots in August 2019 and generated the actual vegetation map by analyzing the physiognomic community classification and mean importance value. The physiognomic community classification showed five vegetation community types: Quercus acutissima community, Pinus densiflora community, Quercus variabilis community, Pinus rigida community, and Quercus serrata community. The relative importance value in the Q. acutissima community was 31.4% for Q. acutissima, 9.6% for Prunus spp., and 9.0% for Q. variabilis. In the P. densiflora community, it was 24.9% for P. densiflora, 12.4% for Q. acutissima, and 11.5% for Q. serrata. In the Q. variabilis community, it was 25.3% for Q. variabilis, 9.8% for Prunus spp., and 8.5% for Q. acutissima. In the P. rigida community, it was 28.4% for P. rigida 28.4%, 10.0% for Q. acutissima, and 9.3% for P. densiflora. In the Q. serrata community, it was 27.0% for Q. serrata, 11.3% for Q. aliena, and 11.5% for Styrax japonica. The actual vegetation map based on the uppermost dominant species to identify the forest vegetation's spatial distribution characteristics indicated that the natural vegetation covered the most with 87.5%, the number of vegetation patches was 87, and the average area per patch was 1.46ha.

Litter Production and Nutrient Contents of Litterfall in Oak and Pine Forests at Mt. Worak National Park

  • Mun, Hyeong-Tae;Kim, Song-Ja;Shin, Chang-Hwan
    • Journal of Ecology and Environment
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    • v.30 no.1
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    • pp.63-68
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    • 2007
  • Litter production, nutrient contents of each component of litterfall and amount of nutrients returned to forest floor via litterfall were investigated from May 2005 through April 2006 in Quercus mongolica, Quercus variabilis and Pinus densiflora forests at Mt. Worak National Park. Total amount of litterfall during one year in Q. mongolica, Q. variabilis and P. densiflora forests was 542.7, 459.2 and $306.9\;g\;m^{-2}\;yr^{-1}$, respectively. Of the total litterfall, leaf litter, branch and bark, reproductive organ and the others occupied 50.3%, 22.7%, 10.1 % and 16.9% in Q. mongolica forest, 81.9%, 7.2%, 3.1% and 7.9% in Q. variabilis forest, 57.4%, 12.8%, 5.6% and 24.1 % in P. densiflora forest, respectively. Nutrients concentrations in oak litterfall were higher than those in needle litter. N, P, K, Ca and Mg concentration in leaf litterfall were 13.8, 1.1, 7.2, 4.2 and 1.3 mg/g for Q. mongolica forest, 10.5, 0.7, 3.2, 3.7 and 1.6 mg/g for Q. variabilis forest, 5.3, 0.4, 1.2, 2.8 and 0.6mg/g for P. densiflora forest, respectively. The amount of annual input of N, P, K, Ca and Mg to the forest floor via litterfall was 43.36, 2.89, 21.38, 23.31 and $5.62\;kg\;ha^{-1}\;yr^{-1}$ for Q. mongolica forest, 32.28, 2.01, 10.23, 20.29 and $7.78\;kg\;ha^{-1}\;yr^{-1}$ for Q. variabilis forest, 15.80, 1.04, 3.99, 9.70 and $2.10\;kg\;ha^{-1}\;yr^{-1}$ for P. densiflora forest, respectively.

새로운quinolone계 항균제의 경구용제제화 연구

  • 이규현;윤두선;홍종호;홍지웅;심영기;전인구
    • Proceedings of the Korean Society of Applied Pharmacology
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    • 1994.04a
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    • pp.308-308
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    • 1994
  • 열분석 (DSC, TG/DTA)을 통해 Q-35는 A, B, C의 세가지 다형이 존재함을 알수 있었으며 이중 상대습도에 따른 흡습성의 변화가 적고, 가습에 의해 다형전환이 일어나지 않는 C형이 제제에 유리하다고 사료된다. 또한C형은 분쇄, 연합 및 타정에 의한 다형의 전환이 없었다. Q-35의 용해도는 물, 메탄올, 에탄올에 각각 0.30.3.55,6.31mg/m1 이었으며 PH5이상에서는 급격히 용해도가 감소하고 산성에서는 용해도가 크게 증가하는 양상을 나타냈다. 적층시험, 배합시험을 통해 선정한부형제의 표준 처방 혼합물로 정제를 저조한 결과Q-35의 성형성은 양호하였고 Q-35의 함량이 증가함에 따라 붕해시간이 다소 지 연됨을 알수 있었다. 그러나 Q-35원료는 유동성이 적어 직타법이 적합하지 않았으며, 습식 과립압축법에 따라 저조한 정제의 붕해시간은 5-9분, 15분 후 용출은 91.$\pm$5.0% 이었다. Q-35정제를 4$0^{\circ}C$, 4$0^{\circ}C$ ㆍ 75%RH에서 6개월, 6$0^{\circ}C$에서 3개월 보존후 함량을 측정한 결과 각각 100.0, 98.7, 98.9%이었으며 그밖의 항목에서도 안정한 결과를 얻어 Q-35정제는 온도 및 습도어 안정한 것으로 사료된다. 대량생산 연구결과 Q-35의 결정수가 이탈되지 않도록 건조, 코팅 공정 중 정제의 온도를 5$0^{\circ}C$ 이하로 유지시켰다.

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Validation of an HPLC/UV-based method for Salicornia herbacea-derived isorhamnetin-3-O-glucoside and quercetin-3-O-glucoside quantification

  • Park, Jun Yeon;Paje, Leo Adrianne;Kang, Ki Sung;Lee, Sanghyun
    • Journal of Applied Biological Chemistry
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    • v.64 no.3
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    • pp.285-290
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    • 2021
  • Salicornia herbacea is a type of salt marsh plant that has been used in traditional medicine to treat several diseases. Isorhamnetin-3-O-glucoside (I3G) and quercetin-3-O-glucoside (Q3G) are major flavonoids in S. herbacea that are known to exert various pharmacological activities. Therefore, our study sought to validate and optimize an HPLC/UV-based analytical method for I3G and Q3G yield quantification, as well as to determine its limit of detection, limit of quantification, linearity, precision, and accuracy. Upon testing a concentration range of 31.5-1.9 ㎍/mL the results exhibited good linearity (r2 ≥0.9996 and r2 ≥0.9999 for I3G and Q3G, respectively), and the procedure was deemed precise (relative standard deviation of ≤3.19 and ≤3.85%, respectively), and accurate (102.6-105.0 and 92.9-95.2%, respectively). The results showed that our proposed method could be used for rapid I3G and Q3G evaluation in S. herbacea.

Cytogenetic Analysis in Korean Head and Neck Cancer Cell Lines: Comparative Genomic Hybridization(CGH) and Array-CGH (두경부 편평상피세포암 세포주의 염색체 이상 분석: 비교유전체보합법과 Array 비교유전체보합법)

  • Shin, You-Ree;Park, Soo-Yeun;Lee, Dong-Wook;Kim, Han-Su;Go, Young-Min;Park, Hyun-Joo;Choung, Sung-Min
    • Korean Journal of Head & Neck Oncology
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    • v.24 no.1
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    • pp.33-42
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    • 2008
  • Head and neck squamous cell carcinoma(HNSCC) is notorious for its poor outcome and increasing incidence. But, the studies of cytogenetic analysis in HNSCC are relatively rare, because of difficulties in culturing solid tumor cells and complexity in chromosomal DNA abberations associated with the lesions. The purpose of this study is to evaluate the location of chromosomal aberrations in Korean HNSCC cell lines (SNU-1041, 1066, and 1076) with comparative genomic hybridization(CGH) and array based CGH(array-CGH). Chromosomal gains of 3q23-q27, 5p13-p15.3, 7p21-pter, 8q11.2-q12, 8q21.1-qter, 9q22-q34, 16q22-q24, and 20q11.2-qter, as well as chromosomal losses on 3p10-p14 were found in all 3 SNU cell lines. Losses on 3p15- p23, 4q22-q27, 4q31.3-qter, 6q14-q15, 7q31-q34, 8p12-pter, 18q21-q23, and 21q11.2-q12 were observed in 2 of 3 cell lines. In array-CGH, many genes were altered including gains of PIK3CA, MYC, EVI1, MAD1L1 genes and losses of SERPIN genes. These aberrations of gene and chromosome coincide with other results of study, generally. These data about the patterns of chromosomal aberrations could be a basic step for understanding more detailed genetic events in the carcinogenesis and also provide information for diagosis and treatment in HNSCC.

Microwave Dielectric Properties of (1-X)$Mg_4Ta_2O_{9-x}TiO_2$(X=0, 0.3, 0.4) Ceramics with Sintering Temperature (소결온도에 따른 (1-x)$Mg_4Ta_2O_{9-x}TiO_2$(X=0, 0.3, 0.4) 세라믹스의 마이크로파 유전특성)

  • 김재식;최의선;이문기;이영희
    • The Transactions of the Korean Institute of Electrical Engineers C
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    • v.53 no.2
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    • pp.67-72
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    • 2004
  • The microwave dielectric properties and microstructure of the (1-x)$Mg_4Ta_2O_{9-x}TiO_2$(X=0, 0.3, 0.4) ceramic were, investigated. The specimens were prepared by the conventional mixed oxide method with sintering temperature of $1350^{\circ}C$$1425^{\circ}C$. According to the XRD patterns, the (1-x)$Mg_4Ta_2O_{9-x}TiO_2$(X=0, 0.3, 0.4) ceramics have the $Mg_4Ta_2O_{9}$ phase(hexagonal). The dielectric constant($\varepsilon$$_{\gamma}$) and density increased with sintering temperature and mole fraction of x. To improve the quality factor and the temperature coefficient of resonant frequency, TiO$_2$($\varepsilon_{r}$=100, $Q{\times}f_{r}$=40,000GHz, $\tau$$_{f}$=+450 ppm/$^{\circ}C$) was added in $Mg_4Ta_2O_{9}$ ceramics. In the case of the $0.7Mg_4Ta_2O_{9}$-$0.3TiO_2$ and the $0.6Mg_4Ta_2O_{9}$-$0.4TiO_2$ceramics sintered at $1400^{\circ}C$ for 5hr., the microwave dielectric properties were $\varepsilon$$_{\gamma}$=11.72, $Q{\times}f_{r}$=126,419GHz, $\tau_{f}$=-31.82 ppm/$^{\circ}C$ and $\varepsilon_{r}$=12.19, $Q{\times}f_{r}$=109,411GHZ, $\tau$$_{f}$= -17.21 ppm/$^{\circ}C$, respectively.

Injury Study of Older Children Anthropomorphic Test Device with CRS Harness Belt and Vehicle Level Crash Test (CRS 하네스 벨트 사용에 따른 어린이 인체 모형 상해 연구 및 실차 레벨 충돌 평가)

  • Kang, Seungkyu;Yang, Minho;Kim, Jeonghan;Jin, Jeongmoon;Lee, Sooyul
    • Journal of Auto-vehicle Safety Association
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    • v.9 no.3
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    • pp.31-38
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    • 2017
  • For years, Q1.5 (anthropomorphic test device for 1.5 years old infant) and Q3 (anthropomorphic test device for 3 years old infant) dummy protection has been improved considerably by the effort of EuroNCAP. ISOFIX strength of vehicle structure has increased and many child occupant protection tests have made child restraint system (hereafter CRS) optimized for child safety. However, from 2016, EuroNCAP changed the dummy which is used for the child occupant protection from Q1.5/Q3 to Q6/Q10 and these were also adopted in KNCAP from 2017. Therefore, a new method is required to secure the safety for older children In this research, child dummies were tested by using adult safety systems, and the different results from each adult restraint system were compared. Finally, dummies were tested with the CRS harness belt commonly used for infants, which has yielded significant result. In this research, mid-sized sedan and small SUV were used for the test. The researchers of this paper performed sled tests to correlate between the different adult safety belt system and child injury. Following the sled test, an actual vehicle test was conducted to gather the injury data of Q-dummy with the CRS harness belts. This paper will show the advantages of applying a pre-tensioner in the second row for child protection and the necessity of CRS which has its own harness belts to improve safety for older children.

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.