• BMB Reports
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• 제30권1호
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• pp.33-36
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• 1997

Age-dependent deletion of mitochondrial DNA (mtDNA) was detected in mouse brain using PCR method. The size of the deleted fragment was 0.5 kb, 0.9 kb. 1.7 kb and 4.3 kb in the region between cytochrome b gene and ATPase 6 gene. The deleted fragment was increased gradually from 3-month to 22month Direct repeat sequence flanking the deletion in 0.5 kb PCR product was TAAT.

• Journal of applied mathematics & informatics
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• 제26권3_4호
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• pp.679-688
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• 2008

In multivariate regression analysis there exist many influence measures on the regression estimates. However it seems to be few of influence diagnostics on test statistics in hypothesis testing. Case-deletion approach is fundamental for investigating influence of observations on estimates or statistics. Tang and Fung (1997) derived single case-deletion of the Wilks' ratio, Lawley-Hotelling trace, Pillai's trace for testing a general linear hypothesis of the regression coefficients in multivariate regression. In this paper we derived more extended form of those measures to deal with joint influence among observations. A numerical example is given to illustrate the effect of joint influence on the test statistics.

• Clinical and Experimental Pediatrics
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• 제46권8호
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• pp.831-835
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• 2003

저자들은 특징적인 안면 기형과 발열이 있는 semilobar type의 holoprosencephaly 환아에서 국내에서는 보고된 바 없는 염색체 검사상 21번 염색체 단체성이 동반된 holoprosencephaly 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Genomics & Informatics
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• 제10권4호
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• pp.226-233
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• 2012

Since the advent of whole-genome sequencing, transposable elements (TEs), just thought to be 'junk' DNA, have been noticed because of their numerous copies in various eukaryotic genomes. Many studies about TEs have been conducted to discover their functions in their host genomes. Based on the results of those studies, it has been generally accepted that they have a function to cause genomic and genetic variations. However, their infinite functions are not fully elucidated. Through various mechanisms, including de novo TE insertions, TE insertion-mediated deletions, and recombination events, they manipulate their host genomes. In this review, we focus on Alu, L1, human endogenous retrovirus, and short interspersed element/variable number of tandem repeats/Alu (SVA) elements and discuss how they have affected primate genomes, especially the human and chimpanzee genomes, since their divergence.

• 대한전자공학회:학술대회논문집
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• 대한전자공학회 2008년도 하계종합학술대회
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• pp.897-898
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• 2008

Array comparative genomic hybridization (aCGH) has been used to detect chromosomal regions of amplifications or deletions, which allows identification of new cancer related genes. As aCGH, a large-scale spatial data, contains significant amount of noises in its raw data, it has been an important research issue to segment genomic DNA regions to detect its true underlying copy number aberrations (CNAs). In this study, we focus on applying a segmentation method to multiple data sets. We compare two different threshold values for analyzing aCGH data with CBS method [1]. The proposed threshold values are p-value or $Q{\pm}1.5IQR$ and $Q{\pm}1.5IQR$.

• Journal of Genetic Medicine
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• 제12권2호
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• pp.61-65
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• 2015

Whole genome sequencing (WGS)-based noninvasive prenatal test (NIPT) is the first method applied in the clinical setting out of various NIPT techniques. Several companies, such as Sequenom, BGI, and Illumina offer WGS-based NIPT, each with different technical and bioinformatic approaches. Sequenom, BGI, and Illumina utilize z-, t-, and L-scores, as well as normalized chromosome values, respectively, for trisomy detection. Their outstanding performance has been demonstrated in clinical studies of more than 100,000 pregnancies. The sensitivity and specificity for detection of trisomies 13, 18, and 21 were above 98%, as reported by all three companies. Unlike other techniques, WGS-based NIPT can detect other trisomies as well as clinically significant segmental duplications/deletions within a chromosome, which could expand the scope of NIPT. Incorrect results could be due to low fetal fraction, fetoplacental mosaicism, confined placental mosaicism or maternal copy number variation (CNV). Among those, maternal CNV is a significant contributor of false positive results and therefore genome wide scanning plays an important role in preventing the occurrence of false positives. In this article, the bioinformatic techniques and clinical performance of three major companies are comprehensively reviewed.

• 대한음성학회지:말소리
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• 제40호
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• pp.29-49
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• 2000

This study has two aim: one is to clarify the restructuring of English in utterance and the other is to make use of text-setting to be applied to getting accustomed to the English rhythm and pronunciation. Clitics prove to play a crucial role on the English restructuring, and are found to be attached to their previous and to their next head or host, thus forming, respectively, an on-cliticized rhythm, trochee and a pro-cliticized rhythm, iambus. En-cliticization proves to be preferred to pro-cliticization in most types of English rhythms. Accordingly, the restructuring turn out to occur all over the levels of the Prosodic Hierarchy. That is, syllables, words and clitic groups are restructured in poetry as well as in song words, which means the necessity of restructuring throughout the levels of the Prosodic Hierarchy from the syllable to the utterance. The present study suggests a good use of a rhythmic textsetting for learners of English to get accustomed to the stress-timed rhythm as well as to such changes in pronunciation as reductions, deletions, resolutions, contractions, and rhythms in English.

• 말소리와 음성과학
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• 제6권4호
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• pp.101-108
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• 2014

This study investigates the effects of Japanese learners' Korean segmental production on pronunciation evaluation by Korean native raters. Read speech from 24 learners whose native language is Japanese are transcribed at the phonemic level, and confusion matrices are generated based on the phonemic transcriptions. The deviance from the canonical pronunciation found in the learners' speech is analyzed in terms of phoneme substitutions, vowel insertions, and consonant deletions. Each learner's pronunciation is rated impressionistically by 5 Korean native raters. The result shows that the deviance from the canonical pronunciation is strongly correlated with the pronunciation evaluation scores. Especially, the rates of phoneme substitutions and vowel insertions which are very strongly correlated with the pronunciation evaluation scores.

• Journal of Yeungnam Medical Science
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• 제24권2호
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• pp.322-328
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• 2007

Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of urea cycle metabolism; it is inherited in an X-linked manner. The OTC catalyzes the third step of the urea cycle, the conversion of ornithine and carbamyl phosphate to citrulline. Deficiency of OTC leads to the accumulation of ammonia, causing neurological deficits. In most affected hemizygote males, OTC deficiency manifests as hyperammonemic coma that often leads to death in the newborn period, and those who recover from the coma may be neurologically impaired due to the sequelae of the hyperammonemic encephalopathy. In some, late-onset manifestations develop. We report a male neonate with early onset OT deficiency that had apnea and was comatous. On mutation analysis using DNA sequencing after polymerase chain reaction (PCR) amplification of the 10 exons, deletions of 10 bases in codon 285, causing a frame shift was detected in exon 8. The mother and a sister were diagnosed as female carriers. Therefore, genetic counseling and the risk assessment could be provided to the family.

• Asian-Australasian Journal of Animal Sciences
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• 제22권7호
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• pp.955-961
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• 2009

The aim of this study was to determine the specific polymorphic sites in cattle breeds and inter- and interbreed genetic variation among breeds and to develop a databank of Turkish native cattle mtDNA using sequence analysis. The entire D-loop region was analyzed based on DNA sequences in Turkish Grey, East Anatolian Red, South Anatolian Red, and Anatolian Black native breeds. In total, 68 nucleotide differences were observed at 26 different sites. The variable positions consisted of 22 transitions, two transversions, and two insertions, but no deletions. Haplotype number, haplotype diversity, nucleotide diversity, and mean number of pairwise difference values were found to be 17, 0.993, 0.00478, and 4.275, respectively. In addition, a phylogeny was developed by comparison among cattle populations for which the entire D-loop sequence was available. A high level of genetic variation was observed within and among the native cattle breeds.