• Title/Summary/Keyword: RecQ

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Repetitive Pregnancy Loss in inv(22)(p13q12) Carrier

  • Kim, Do-Hoon;Ha, Jung-Sook;Rhee, Jeong-Ho
    • 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).

Comparative Genomic Analysis and Rapid Molecular Detection of Xanthomonas euvesicatoria Using Unique ATP-Dependent DNA Helicase recQ, hrpB1, and hrpB2 Genes Isolated from Physalis pubescens in China

  • Faisal Siddique;Yang Mingxiu;Xu Xiaofeng;Ni Zhe;Haseeb Younis;Peng Lili;Zhang Junhua
    • The Plant Pathology Journal
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    • v.39 no.2
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    • pp.191-206
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    • 2023
  • Ground cherry (Physalis pubescens) is the most prominent species in the Solanaceae family due to its nutritional content, and prospective health advantages. It is grown all over the world, but notably in northern China. In 2019 firstly bacterial leaf spot (BLS) disease was identified on P. pubescens in China that caused by both BLS pathogens Xanthomonas euvesicatoria pv. euvesicatoria resulted in substantial monetary losses. Here, we compared whole genome sequences of X. euvesicatoria to other Xanthomonas species that caused BLS diseases for high similarities and dissimilarities in genomic sequences through average nucleotide identity (ANI) and BLAST comparison. Molecular techniques and phylogenetic trees were adopted to detect X. euvesicatoria on P. pubescens using recQ, hrpB1, and hrpB2 genes for efficient and precise identification. For rapid molecular detection of X. euvesicatoria, loop-mediated isothermal amplification, polymerase chain reaction (PCR), and real-time PCR techniques were used. Whole genome comparison results showed that the genome of X. euvesicatoria was more closely relative to X. perforans than X. vesicatoria, and X. gardneri with 98%, 84%, and 86% ANI, respectively. All infected leaves of P. pubescens found positive amplification, and negative controls did not show amplification. The findings of evolutionary history revealed that isolated strains XeC10RQ, XeH9RQ, XeA10RQ, and XeB10RQ that originated from China were closely relative and highly homologous to the X. euvesicatoria. This research provides information to researchers on genomic variation in BLS pathogens, and further molecular evolution and identification of X. euvesicatoria using the unique target recQ gene through advance molecular approaches.

Developing a Measurement Scale for Service Recovery Quality in Internet Commerce (인터넷 상거래에서의 서비스회복 품질 측정도구 개발)

  • Min, Dong-Kwon
    • Journal of Korea Society of Industrial Information Systems
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    • v.13 no.5
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    • pp.44-54
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    • 2008
  • The objective of this research is to develop a measurement instrument for service recovery quality in the Internet commerce setting. To this same end, Parasuraman et al.(2005) have devised a scale called E-RecS-QUAL, which we revised and supplemented to develop another instrument named eSR-Q. To guarantee its reliability and validity, this instrument went through the refinement and validation processes for internal consistency and construct validity in terms of convergent, discriminant, and nomological validity. Our final scale consists of four dimensions including responsiveness, compensation, contact, and apologies altogether with fourteen measures. Overall, this research deals with the related research background, the scale development and validation processes, its limitations, and future research directions.

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A Case of Short Arm Deletion and Long Arm Duplication at Chromosome 3 (3번 염색체 단완 결실과 장완 중복을 동반한 1례)

  • Kong, Seung Hyun;Seo, Jeong Il;Kang, Jang Hui;Jung, So Young;Mok, Ji Sun
    • Clinical and Experimental Pediatrics
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    • v.48 no.12
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    • pp.1389-1389
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    • 2005
  • The long arm duplication of chromosome 3 was reported for the first time in 1966 by Falek et al., and Hirschhorn et al. came to identify the duplication of 3q21${\rightarrow}$qter region in 1973. In most cases of duplication 3q syndrome patients, pure duplication of 3qter is believed to be rare and is often reported accompanied with deletion of another segment of the chromosome. Approximately 75 percent of parents of the patient in the meantime have been demonstrated to have unbalanced translocations or inversions of the chromosome. Partial deletion of the distal part of the short arm of chromosome 3 was first reported by Verjaal and De Nef in 1978 and terminal deletion of chromosome 3 (3p25-qter) has been observed in most cases. In karyotyping of chromosomes of immature infants showing the manifestations of flat occiputs, low set ears, hypertelorism, broad nasal roots, thin lips, web necks, hypotonia, hypertrichosis skin, cryptorchidism etc, we experienced a case diagnosed as 46,XY, rec(3)dup(3)(q21)del(3)(p25)inv(3)(p25q21).

S-ketoprofen enantiomer의 정제를 위한 SMB(Simulated Moving Bed) 크로마토그래피 장치의 모델링

  • Yun, Tae-Ho;Kim, In-Ho
    • 한국생물공학회:학술대회논문집
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    • 2002.04a
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    • pp.489-492
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    • 2002
  • We have performed batch chromatography experiments to calculate parameters which are used to design SMB chromatography system. Isotherms of S- and R-ketoprofen enantiomers were gained from small amount loading experiments in a column, and flow rate of four zones of SMB chromatography were calculated using mass balance equations. As a results, diameter and length of columns were 10mm and 600mm, and flow rate of each zone were as follows; $Q_{Feed}$=1.00ml/min ,$Q_{Elu}$=2.81ml/min ,$Q_{Raf}$=1.81ml/min ,$Q_{Ext}$=2.00ml/min , and $Q_{Rec}^{TMB}$=10.75ml/min , From the Darcy's equation, the pressure drop in whole columns of SMB chromatography was 128bar.

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A Case of a del(8p)/dup(8q) Recombinant Chromosome (8번 염색체 단완 결실과 장완 중복을 동반한 신생아 1례)

  • Kim, Jeong-Young;Im, Hyo-Bin;Son, Sang-Hee;Jeong, So-Young;Sung, Min-Jung;Seo, Son-Sang
    • Neonatal Medicine
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    • v.16 no.1
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    • pp.76-80
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    • 2009
  • A male baby with intrauterine growth retardation had a short neck, small hands and feet, hypospadia, both grade I hydronephrosis, type II atrial septal defect, and moderate valvular pulmonary stenosis. The routine chromosome and banding analyses revealed a 46,XY,rec(8)del(8)(p21)dup(8) (q24.1)inv(8)(p21q24.1)pat chromosome constitution. His mother has normal chromosomes, but the father had 46,XY,inv(8)(p21q24.n Also his uncle had an inv(8) chromosome constitution. We used lymphocytes and examined 40 mitotic cells. All mitotic cells showed deletion of 8p21-->pter and duplication of 8q24.1 -->qter. Because Sp21 involves secretion of macrophage and lymphocyte against cancer cells, long-term follow-up for cancer will be needed.

Characterization of Hrq1-Rad14 Interaction in Saccharomyces cerevisiae (효모에서 Hrq1과 Rad14의 상호작용에 대한 연구)

  • Min, Moon-Hee;Kim, Min-Ji;Choi, You-Jin;You, Min-Ju;Kim, Uy-Ra;An, Hyo-Bin;Kim, Chae-Hyun;Kwon, Chae-Yeon;Bae, Sung-Ho
    • Korean Journal of Microbiology
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    • v.50 no.2
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    • pp.95-100
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    • 2014
  • Hrq1 is a novel member of RecQ helicase family, found in fungal genomes by bioinformatics analyses. It is most homologous to human RECQL4 and recent genetic and biochemical studies suggested that it may play roles in the maintenance of genome stability. In this study, we investigated yeast two-hybrid interactions between Hrq1 and the yeast genes homologous to the human genes that are known to interact with RECQL4. Among the 11 genes tested, Rad14, a nucleotide excision repair (NER) factor, was found to interact with Hrq1. In addition, pull-down assay with the purified proteins revealed direct protein-protein interaction between Hrq1 and Rad14. The yeast two-hybrid interaction was enhanced by the DNA damage induced by 4-nitroquinoline-1-oxide, which was dependent on the presence of Rad4, a key NER factor. These results suggest that Hrq1 may function in NER through interaction with Rad14.

The Recurrent Pregnancy Loss Associated with a Female Carrier of a Structural Chromosome Rearrangement (염색체 구조적 이상을 가진 산모의 재조합에 의한 태아의 비정상 핵형분석결과의 증례보고)

  • Lee, Soo-Min;Go, Sang-Hee;Jo, Soo-Kyung;Park, So-Hyun;Moon, Soo-Jin;Lee, Dong-Suk;Kim, Ki-Chul;Hwang, Do-Yeong
    • Journal of Genetic Medicine
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    • v.7 no.2
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    • pp.156-159
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    • 2010
  • Inversion, one of the balanced rearrangements, usually does not lead to phenotypic abnormalities; all genetic information exists in the proper amount, merely in a different order or in an abnormal location. However, offspring of an inversion carrier is at risk of chromosomal imbalance because an inversion loop can be formed during crossing-over of the paternal and the maternal chromosomes in meiosis. We report a 38-year-old woman with inversion and balanced translocation and her fetus with unusual rearrangement causing chromosomal imbalance. We performed conventional cytogenetic analysis, MLPA, and subtelomeric FISH in the cells of the embryo. The results showed that the distal portion of chromosome 13q was added to the terminal portion of chromosome 9p during crossing-over. Therefore, the final karyotype of the fetus was 46,XY,rec(9)t(9;13)(p22;q32)inv(9)(p12q13)mat, confirmed using molecular-cytogenetic analyzing tools.

Selection of Stable Reference Genes for Real-Time Quantitative PCR Analysis in Edwardsiella tarda

  • Sun, Zhongyang;Deng, Jia;Wu, Haizhen;Wang, Qiyao;Zhang, Yuanxing
    • Journal of Microbiology and Biotechnology
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    • v.27 no.1
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    • pp.112-121
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    • 2017
  • Edwardsiella tarda is a gram-negative pathogenic bacterium in aquaculture that can cause hemorrhagic septicemia in fish. Many secreted proteins have already been identified as virulent factors of E. tarda. Moreover, since virulent phenotypes are based on the expression regulation of virulent genes, understanding the expression profile of virulent genes is important. A quantitative RT-PCR is one of the preferred methods for determining different gene expressions. However, this requires the selection of a stable reference gene in E. tarda, which has not yet been systematically studied. Accordingly, this study evaluated nine candidate reference genes (recA, uup, rpoB, rho, topA, gyrA, groEL, rpoD, and 16S rRNA) using the Excel-based programs BestKeeper, GeNorm, and NormFinder under different culture conditions. The results showed that 16S rRNA was more stable than the other genes at different culture growth phases. However, at the same culture time, topA was identified as the reference gene under the conditions of different strains, different culture media, and infection, whereas gyrA was identified under the condition of different temperatures. Thus, in experiments, the expression of gapA and fbaA in E. tarda was analyzed by RT-qPCR using 16S rRNA, recA, and uup as the reference genes. The results showed that 16S rRNA was the most suitable reference gene in this analysis, and that using unsuitable reference genes resulted in inaccurate results.

Conceptual Design on the ISDN Service Node for Multi-party Connection Services -Part II. A Study on the Control Procedures for the Service Node - (ISDN에서의 다자간 접속 서비스 제공을 위한 서비스노드의 개념적 설계 - 제2부 : 서비스노드 제어절차에 관한 연구 -)

  • 옥승수;강민석;조규섭;박병철
    • The Journal of Korean Institute of Communications and Information Sciences
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    • v.19 no.2
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    • pp.242-253
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    • 1994
  • For the implementation of a Service Node, which is proposed in the companion paper to provide multiparty conference type sevices in the ISDN, we define some technical aspects such as connection control, service control procedure and control messages in this paper. Additional connection control procedures for the multiparty connections are annexed to the CCITT Rec. Q.931 and Q.764 for the ISDN subscriber and common channel interoffice signaling. A new set of service control procedures is also established according to the necessary service control functions. The messages for these procedures are formatted using user-to-user signaling parts of Q.931 and Q.763 messages not to affect on the existing signaling system. Some technical requirements of subscriber terminal for the multiparty services are also deduced.

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