• Journal of Genetic Medicine
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• v.7 no.1
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• pp.78-81
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• 2010

Pericentric inversion is not rare in humans and is usually benign. However, pericentric inversion can lead to production of an unbalanced recombinant and might be a cause of repetitive pregnancy loss. Pericentric inversion of chromosome 22 is rare and only a few cases have been reported. We report a case of inv(22)(p13q12) carrier who had history of repetitive pregnancy loss including three spontaneous abortions and one fetal hydrops in which the chromosomal complement was rec(22)dup(22q) inv(22)(p13q12)mat. The maternal inv(22) and fetal rec(22) were confirmed by fluorescence in situ hybridization using region-specific probes (TUPLE1 on 22q11.2 and ARSA on 22q13). Because the identification of inv(22) or rec(22) in conventional karyotyping might be easily overlooked, great attention and additional molecular tests are required for accurate diagnosis of inv(22) and rec(22).

• 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.

• Journal of Genetic Medicine
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• v.8 no.2
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• pp.119-124
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• 2011

Purpose: Supernumerary marker chromosome (SMC) could be associated with various phenotypic abnormalities based on the chromosomal origin of SMCs. The present study aimed to determine the genomic contents of SMCs using chromosomal microarray and to analyze molecular cytogenetic characterizations and clinical phenotypes in patients with SMCs. Materials and Methods: Among patients with SMCs detected in routine chromosomal analysis, SMCs originating from chromosome 15 were excluded from the present study. CGH-based oligonucleotide chromosomal microarray was performed in 4 patients. Results: The chromosomal origins of SMCs were identified in 3 patients. Case 1 had a SMC of 16.1 Mb in 1q21.1-q23.3. Case 2 showed 21 Mb gain in 19p13.11-q13.12. Case 3 had a 4.5 Mb-sized SMC rearranged from 2 regions of 2.5 Mb in 22q11.1-q11.21 and 2.0 Mb in 22q11.22-q11.23. Conclusion: Case 1 presented a wide range of phenotypic abnormalities including the phenotype of 1q21.1 duplication syndrome. In case 2, Asperger-like symptoms are apparently related to 19p12-q13.11, hearing problems and strabismus to 19p13.11 and other features to 19q13.12. Compared with cat-eye syndrome type I and 22q11.2 microduplication syndrome, anal atresia in case 3 is likely related to 22q11.1-q11.21 while other features are related to 22q11.22-q11.23. Analyzing SMCs using high-resolution chromosomal microarray can help identify specific gene contents and to offer proper genetic counseling by determining genotype-phenotype correlations.

• Korean Journal of Clinical Laboratory Science
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• v.47 no.4
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• pp.209-215
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• 2015

Colorectal carcinoma is one of the four major cancers in Korea, and it shows the tendency of increase every year due to economic development and changes to western styles. Accordingly, various diagnostic methods are needed and so comparative genomic hybridization (CGH) was performed. Deletion was detected on 5q (10%), 10q (17%), 17p (40%), 18p (23%), 18q (47%), 22q (23%), and higher deletion loci were 18q (12/30, 47%), 17p (12/30, 40%), and 22q (7/30, 23%). Amplification was shown on chromosomes 6pq (10%), 7p (17%), 7q (33%), 8q (13%), 9pq (10%), 12q (17%), 13q (37%), 20p (23%), and 20q (57%) respectively. The highest amplification was detected on chromosomes 20q (17/30, 57%), 13q (11/30, 37%), and 7q (10/30, 33%). The genetic change pattern with the locus of colorectal carcinoma was shown mean 3.1 (amplification 1.7, deletion 1.4) on the right colorectal carcinoma, while rectal carcinoma appeared high mean 6.3 (amplification 3.7, deletion 2.6) (p<0.001). The genetic change pattern with lymphatic gland metastasis, mean 3.5 (amplification 2.2, deletion 1.3) from "no metastasis" group, while high mean 6.3 (amplification 3.5, deletion 2.8) from metastasis group (p<0.003). The genetic change pattern with disease stages appeared mean 3.5 (amplification 2.1, deletion 1.4) from I-II stages, while high mean 6.0 (amplification 3.4, deletion 2.6) from III-IV stages (p<0.006). No significance was observed in comparing histological classification and serum CEA increased groups.

• Journal of the Korea Institute of Information and Communication Engineering
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• v.13 no.12
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• pp.2541-2546
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• 2009

In the anti-collision scheme proposed by EPCglobal Class-1 Gen-2 standard, the frame size for a query round is determined by Q-algorithm. In the Q-algorithm, the reader calculates a frame size without estimating the number of tags in it's identification range. It uses only the slot status. Therefore, the Q-algorithm has advantage that the reader's algorithm is simpler than other DFSA algorithms. However, the standard does not define an optimized parameter value for adjusting the frame size. In this paper, we propose the optimized parameter values for minimizing the identification time by various computer simulations.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.8
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• pp.3825-3827
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• 2012

FISH is one of the most sensitive molecular methods to detect genetic abnormalities with DNA probes. When cytogenetic studies are normal or insufficient, FISH may detect cryptic rearrangements, rare or slowly proliferative abnormal populations in non-mitotic cells. We cytogenetically evaluated 70 childhood ALL - 67.1% were found to have an abnormal karyotype. The 23 patients (32.9%) with a normal karyotype were analyzed by FISH applying two probes; TEL/AML1 and MYB which detect cryptic rearrangements of t(12;21)(p13;q22) and deletion of (6q) respectively, associated with a good prognosis. Out of 23 patients, one was positive for t(12;21)(p13;q22) (4.3%). None of our patients were positive for MYB del(6q). Two patients showed an extra signal for MYB on chromosomes other than 6 (8.6 %) indicating amplification or duplication. Findings were compared with the available literature. Our study clearly indicated the integrated FISH screening method to increase the abnormality detection rate in a narrow range. FISH is less useful for diagnostic study of patients with suspected del(6q) but it helps in detecting known cryptic rearrangements as well as identification of new abnormalities(translocation , duplication and amplification) at the gene level.

• Journal of Genetic Medicine
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• v.7 no.1
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• pp.82-86
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• 2010

Jumping translocations (JT) are chromosomal rearrangements involving one donor chromosome and several recipient chromosomes. While JTs are frequently observed as acquired chromosomal abnormalities in hematologic malignancies, constitutional JTs are only rarely reported. We report two cases of constitutional JT in chorionic villi derived from the products of conception. The karyotype of the first case was 46,XY,add(18)(p11.1)[61]/45,XY,der(18;21)(q10;q10)[32]/46,XY,-18,+mar[16]/46,XY,i(18)(q10)[9]/45,XY,der(15;18)(q10;q10)[6]/46,XY,+1,dic(1;18)(p22;p11.1)[2]/45,XY,der(13;18)(q10;q10)[1]/46,XY[32]. The donor was a chromosome 18. The recipient chromosomes were chromosomes 1, 13, 15, 18 and 21. In the second case, the karyotype was 46,XY,der(22)t(9;22)(q12;q13)[22]/46,XY,der(22)t(1;22)(q21;q13)[13]/46,XY,add(22)(q13)[5]/46 XY[23]. The donor was a chromosome 22 and recipients were chromosomes 1 and 9. Both cases were de novo. The breakpoints of chromosomes were mostly in centromeric regions, pericentromeric regions, or telomeric regions. Normal cell lines were observed in both cases. This report supports the prior findings that the unstable nature of JT, resulting in chromosomal imbalance, most likely contributed to these early miscarriages.

• The Monthly Diabetes
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• s.223
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• pp.12-13
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• 2008

• YAKHAK HOEJI
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• v.41 no.5
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• pp.638-646
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• 1997

The steroid 9${alpha}$-hydroxylase activity has been detected in cytosol fraction, $100,00{\times}g$ supernatant of cell free extract of Mycobacterium fortuitum. The activity was not linear with protein concentration in the assay suggesting 9${alpha}$-hydroxylase is a multicomponent enzyme. The 9${alpha}$-hydroxylase system was partially purified through fractional saturation of ammonium sulfate, strong anion exchange (Mono Q) column chromatography, gel filtration (Superose 12) column chromatography, and testosterone affinity gel chromatography. Ammonium sulfate 50~60% saturated fraction of the cytosol gave 9${alpha}$-hydroxylase activity. For further purification, the half-saturated ammonium sulfate fraction was applied to Mono Q, Superose 12, or affinity gel column. The purification factors of 9${alpha}$-hydroxylase containing fraction after Mono Q, Superose 12, and affinity gel chromatography was 13, 11, and 17 respectively.

• Journal of Nutrition and Health
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• v.37 no.4
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• pp.329-338
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• 2004

The purposes of this study were to : a) develop the quality assessment tool of hospital foodservice management, b) evaluate the S hospital's foodservice quality by this tool, and c) do the feasibility study about this tool in hospital food-service field by establishing quality management strategies. The developed quality assessment tool of hospital food-service management was consisted of 20 items for quality evaluation by Likert 5 point scale and two additional questions with the most satisfactory item and the most unsatisfactory item. As a result of evaluation, S hospital's foodservice quality was somewhat high, on the factor 'personnel attitude', especially. The IPA technique proved nine items including Q5, Q7, Q8, Q11, Q12, Q13, Q15, Q16, Q17 were in 'Doing Great, Keep It Up' and seven items such as Q1, Q2, Q3, Q6, Q9, Q18, Q19 that got high expectation and low perception needed to be focused in quality management strategy.