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Gu Hyunjung,Kim Man Jin,Yang Dahae,Song Ji Yun,Cho Sung Im,Park Sung Sup,Seong Moon-Woo 대한진단검사의학회 2021 Annals of Laboratory Medicine Vol.41 No.4
Background: Conventional diagnosis of fragile X syndrome (FXS) is based on a combination of fragment analysis (FA) and Southern blotting (SB); however, this diagnostic approach is time- and labor-intensive and has pitfalls such as the possibility of missing large number alleles. Triplet repeat primed PCR (TP-PCR) is a current alternative used to overcome these limitations. We evaluated the diagnostic usefulness of TP-PCR compared with the conventional diagnostic protocol consisting of FA and/or SB in terms of allele categorization, repeat number correlation, and zygosity concordance in female genetic carriers. Methods: From November 2013 to March 2018, 458 patients (326 males, 132 females) were simultaneously examined using FA and/or SB and TP-PCR by detecting CGG repeat numbers in FMR1 gene and diagnosed as per American College of Medical Genetics guidelines. Results: The TP-PCR results showed high concordance with the FA and/or SB results for all three aspects (allele categorization, repeat number correlation, and zygosity concordance in female genetic carriers). TP-PCR detected CGG expansions ≥200 in all full mutation (FM) allele cases in male patients, as well as both the normal allele (NL) and FM allele in female carriers. In premutation (PM) allele carriers, the TP-PCR results were consistent with the FA and/or SB results. In terms of zygosity concordance in female genetic carriers, 12 NL cases detected by TP-PCR showed a merged peak consisting of two close heterozygous peaks; however, this issue was resolved using a 10-fold dilution. Conclusions: TP-PCR may serve as a reliable alternative method for FXS diagnosis.
GPS 시스템을 위한 긴 주기 의사 잡음 부호 획득 기법
김준환(Junhwan Kim),강승구(Seung Goo Kang),이영포(Youngpo Lee),이영윤(Youngyoon Lee),정다해(Dahae Chong),윤석호(Seokho Yoon),김선용(Sun Yong Kim),지규인(Gyu-In Jee),양진모(Jin Mo Yang),이민준(Min Joon Lee) 한국통신학회 2011 한국통신학회 학술대회논문집 Vol.2011 No.6
본 논문에서는 global positioning system를 (GPS) 위한 저복잡도의 긴 주기 의사 잡음 부호 획득 기법이 제안되었다. 제안한 기법은 위상 변이 네트워크와 차동 순차 추정 기법을 이용하여 기존 순차 추정 기법에 비해 낮은 복잡도를 가지면서도 동일한 mean acquisition time (MAT) 성능을 갖는다. 제안한 기법과 기존 기법이 동일한 MAT 성능을 가짐을 수식적으로 분석하였으며 모의실험을 통해 수식적으로 분석한 결과와 동일함을 보인다.