• Journal of Genetic Medicine
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• v.5 no.1
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• pp.41-46
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• 2008

Purpose : Fragile X syndrome (FXS) is the most common heritable cause of cognitive impairment. FXS is caused by hyperexpansion and hypermethylation of a polymorphic CGG trinucleotide repeat in the 5' untranslated region of the fragile X mental retadation-1(FMR1) gene. Combination of Southern blotting and simple polymerase chain reaction(PCR) amplification of the FMR1 repeat region is commonly used for diagnosis in females. To give a definite diagnosis in a female child suspected of having FXS, we carried out the molecular diagnostic test for FXS using the recently developed Abbott Molecular Fragile X PCR Kit. Methods : The PCR amplification of the FMR1 repeat region was performed using the Abbott Mdecular Fragile X PCR Kit. The amplified products were analyzed by size-separate analysis on 1.5% agarose gels and by DNA fragment analysis using Gene scan. Results : Agarose gel and Gene scan analyses of PCR products of the FMR1 repeat region showed that the patient had two heterozygous alleles with a normal 30 repeats and full mutation of >200 repeats whereas her mother had two heterozygous alleles with the normal 30 repeats and premutation of 108 repeats, suggesting that the premutation of 108 repeats in her mother may have led to the full mutation of >200 repeats in the patient. Conclusion : We diagnosed FXS in a female patient using a simplified molecular diagnostic test. This commercially available diagnostic test for FXS, based on PCR, may be a suitable alternative or complement method to Southern blot analysis and PCR analysis and/or methylation specific(MS)-PCR analysis for the molecular diagnosis of FXS in both males and females.

• BMB Reports
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• v.39 no.6
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• pp.766-773
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• 2006

Fragile-X-syndrome (FXS) is the most common type of inherited cognitive impairment. The underlying molecular alteration consists of a CGG-repeat amplification within the FMR-1 gene. The phenotype is only apparent once a threshold in the number of repeats has been exceeded (full mutation). The aim of this study was to characterize the FMR-1 CGG-repeat status in Argentine patients exhibiting mental retardation. A total of 330 blood samples from patients were analyzed by PCR and Southern blot analysis. Initially, DNA from 78 affected individuals were studied by PCR. Since this method is unable to detect high molecular weight alleles, however, we undertook a second approach using the Southern blotting technique to analyze the CGG repeat number and methylation status. Southern blot analysis showed an altered pattern in 14 out of 240 (6%) unrelated patients, with half of them presenting a mosaic pattern. Eight out of 17 families (47%) showed a (suggest deleting highlight). The characteristic FXS pattern was identified in 8/17 families (47%), and in 4 of these families 25% of the individuals presented with a mosaic model. The expansion from pre-mutation to full mutation was shown to occur both at the pre and post zygotic levels. The detection of FXS mutations has allowed us to offer more informed genetic counseling, prenatal diagnosis and reliable patient follow-up.

• The Journal of the Institute of Internet, Broadcasting and Communication
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• v.11 no.4
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• pp.83-89
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• 2011

Nowadays, Internet Telephony Services based on SIP are gaining an explosive increase for general user. Thus a various demands of the user about convenience of IP-PBX are growing. The most important requirements of these is hybrid IP telephony system which is connected not only internet telephone but also general PSTN telephone. Therefore, in this paper, we have developed Hybrid IP-PBX connected all type of telephony terminals for small office. We have developed FXS module for connecting all type and FXO for using PSTN telephone number also. This Hybrid IP-PBX that is can be connected Soft-phone provide various optional services. We measured voice quality and test simultaneous calling for proof of validity.

• Molecules and Cells
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• v.28 no.6
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• pp.501-507
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• 2009

Fragile X syndrome (FXS) is caused by a lack of the fragile X mental retardation protein (FMRP) due to silencing of the Fmr1 gene. As an RNA binding protein, FMRP is thought to contribute to synaptic plasticity by regulating plasticity-related protein synthesis and other signaling pathways. Previous studies have mostly focused on the roles of FMRP within the hippocampus - a key structure for spatial memory. However, recent studies indicate that FMRP may have a more general contribution to brain functions, including synaptic plasticity and modulation within the prefrontal cortex. In this brief review, we will focus on recent studies reported in the prefrontal cortex, including the anterior cingulate cortex (ACC). We hypothesize that alterations in ACC-related plasticity and synaptic modulation may contribute to various forms of cognitive deficits associated with FXS.

• Clinical and Experimental Reproductive Medicine
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• v.34 no.3
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• pp.179-188
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• 2007

Objectives: Many neurological diseases are known to be caused by expansion of trinucleotide repeats (TNRs). It is hard to diagnose the alteration of TNRs with single cell level for preimplantation genetic diagnosis (PGD). In this study, we describe methods optimized for PGD of TNRs related diseases such as Huntington's disease (HD), spinocerebellar ataxia 3 (SCA3) and fragile X syndrome (FXS). Methods: We performed the preclinical assays with heterozygous patient's lymphocytes by single cell PCR strategy. Fluorescent semi-nested PCR and fragment analysis using automatic genetic analyzer were applied for HD and SCA 3. Whole genome amplification with multiple displacement amplification (MDA) method and fluorescent PCR were carried out for FXS. Amplification and allele drop-out (ADO) rate were evaluated in each case. Results: The fluorescent semi-nested PCR of single lymphocyte showed 100.0% of amplification and 14.0% of ADO rate in HD, and 94.7% of amplification and 5.6% of ADO rate in SCA3, respectively. We could not detect the PCR product of CGG repeats in FXS using the fluorescent semi-nested PCR alone. After applying the MDA method in FXS, 84.2% of amplification and 31.3% of ADO rate were achieved. Conclusions: Fluorescent semi-nested PCR is a reliable method for PGD of HD and SCA3. The advanced MDA method overcomes the problem of amplification failure in CGG repeats of FXS case. Optimization of methods for single cell analysis could improve the sensitivity and reliability of PGD for complicated single gene disorders of TNRs.

• TTA Journal
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• s.92
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• pp.131-137
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• 2004

TTA(한국정보통신기술협회)는 2004년 2월 17일 엔텔테크놀로지㈜(http://www.ntel21.com/) VoIP Gateway(모델명: NT-301)의 기능 및 성능 시험을 수행하여 TTA Verified 인증서(번호: TTA-V-N-04-001)를 발급하였다. 또한 2004년 3월 10일 HS 텔리안㈜(http://www.hsteliann.com/) VoIP Gateway(모델명: Telimax414)의 시험을 수행하여 TTA Verified 인증서(번호: TTA-V-N-04-003)를 발급하였다. 위의 두 장비는 FXS 포트 및 PSTN 백업 포트 그리고 이더넷 포트가 장착된 장비로서, TTA가 위의 두 장비에 대하여 수행한 시험은 기능 확인 및 성능 평가를 측정하는 것이었다. 본 고에서는 TTA가 마련한 소용량 VoIP Gateway에 대한 인증기준(TTA-V-N-03-009-CC12)을 바탕으로 위의 두 장비에 대해 수행한 기능 및 성능 시험결과를 소개한다.

• Proceedings of the IEEK Conference
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• 2000.11c
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• pp.161-164
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• 2000

This paper presents an implementation of internet gateway system, named AX-2000 and call simulator. AX-2000 plays a important role in internet telephony technology and is composed of various board such as MPU, AVU. DVU, AMU. FXS, FXO, EM. Also AX-2000 supports G.729.a, G.723.1 for voice compression, G3 FAX Relay(T.38) and H.323. A capability of AX-2000 is 8 analog voice channel or 30 digital voice channel. For functional verification of AX-2000 voice interface, call simulator is designed. The call simulator makes actual call path between SUT(system under test) and reference AX-2000 system, then through call path examines functions of voice interface.

• Journal of Genetic Medicine
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• v.9 no.2
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• pp.73-77
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• 2012

Purpose: Fragile X carrier detection before or at early pregnancy through a wide screening program may not only confer a risk of having offspring with Fragile X syndrome (FXS), but may also confer a risk for Fragile X-associated primary ovarian insufficiency and Fragile X-associated tremor/ataxia syndrome. However, prior to the implementation of such a program, the carrier prevalence in a population and the availability of effective screening test should be evaluated. The aim of our study was to determine the prevalence of premutation carriers and to evaluate the feasibility of screening test. Materials and Methods: The blood samples were obtained from 8,641 pregnant women with no family history of mental retardation. We performed a three-primer CGG repeat primed (RP) PCR using the AmplideX$^{TM}$ FMR1 PCR kit (Asuragen, Inc. Austin, TX, USA). Samples showing full mutation alleles were reflexed to Southern blot analysis for methylation status and sizing. Results: Among the 8,641 women, we found 8 premutation carriers (1:1,090, 0.09%) and 46 women with an intermediate allele (1:190, 0.53%). No woman was found to carry the fully mutated allele. All the detected alleles were within the CGG repeat range of 8-117. Among the 8,641 samples, 29 and 30 CGG repeats represent 66.6% of all cases. The CGG RP PCR method provides robust detection of expanded alleles and resolves allele zygosity, thus minimizing the number of samples that require Southern blot analysis. Conclusion: This is the first study that has focused on the prevalence of FXS premutation carriers and FMR1 allele distribution in normal pregnant women. These data have important implications for population-based fragile X carrier screening in Korea.

• The Journal of Korean Society for Radiation Therapy
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• v.31 no.2
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• pp.13-24
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• 2019

Purpose: CT scan range is insufficient for various reasons in head and neck Tomotherapy^®. To solve that problem, Re-CT simulation is good because CT scan range affects accurate dose calculations, but there are problems such as increased exposure dose, inconvenience, and a change in treatment schedule. We would like to evaluate the minimum CT scan range required by changing the plan setup parameter of the existing CT scan range. Materials and methods: CT Simulator(Discovery CT590 RT, GE, USA) and In House Head & Neck Phantom are used, CT image was acquired by increasing the image range from 0.25cm to 3.0cm at the end of the target. The target and normal organs were registered in the Head & Neck Phantom and the treatment plan was designed using ACCURAY Precision^®. Prescription doses are Daily 2.2Gy, 27 Fxs, Total Dose 59.4Gy. Target is designed to 95%~107% of prescription dose and normal organ dose is designed according to SMC Protocol. Under the same treatment plan conditions, Treatment plans were designed by using five methods(Fixed-1cm, Fixed-2.5cm, Fixed-5cm, Dynamic-2.5cm Dynamic-5cm) and two pitches(0.43, 0.287). The accuracy of dose delivery for each treatment plan was analyzed by using EBT3 film and RIT(Complete Version 6.7, RIT, USA). Results: The accurate treatment plan that satisfying the prescribed dose of Target and the tolerance dose in normal organs(SMC Protocol) require scan range of at least 0.25cm for Fixed-1cm, 0.75cm for Fixed-2.5cm, 1cm for Dynamic-2.5cm, and 1.75cm for Fixed-5cm and Dynamic-5cm. As a result of AnalysisAnalysis by RIT. The accuracy of dose delivery was less than 3% error in the treatment plan that satisfied the SMC Protocol. Conclusion: In case of insufficient CT scan range in head and neck Tomotherapy^®, It was possible to make an accurate treatment plan by adjusting the FW among the setup parameter. If the parameter recommended by this author is applied according to CT scan range and is decide whether to re-CT or not, the efficiency of the task and the exposure dose of the patient are reduced.