• Title/Summary/Keyword: that-Deletion

Search Result 1,084, Processing Time 0.026 seconds

Identification of Large Deletion of Mitochondrial DNA in Kearns-Sayre Syndrome (KSS)

  • Kim, Sang-Ho
    • Journal of Life Science
    • /
    • v.9 no.1
    • /
    • pp.1-4
    • /
    • 1999
  • Large-scale deletions of mitochondrial DNA(mtDNA) have been documented in patients with mitochondrial myopathies and seem to be especially frequent in patients with Kearns-Sayre syndrome (KSS). About one third of all patients shows a 4,977 bp deletion, known as the "common deletion", that removes a segment of DNA that includes several genes encoding for respiratory chain subunits. In this disorder, the population of deleted mtDNA molecules coexists with population of normal, wild-type full length mtDNAs, a situation known as heteroplasmy. We have performed polymerase chain reaction (PCR) on paraffin-embedded muscle tissues from two korean KSS patients. The PCR analysis revealed the existence of two amplified fragments, the deleted fragments, the deleted fragment of 123 bp characteristic for common deletion and the wild-type fragment of 152 bp.of 152 bp.

  • PDF

De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case

  • Kim, Ha-Su;Han, Jin-Yeong;Kim, Myo-Jing
    • Clinical and Experimental Pediatrics
    • /
    • v.58 no.8
    • /
    • pp.313-316
    • /
    • 2015
  • Interstitial deletions involving the chromosome band 15q22q24 are very rare and only nine cases have been previously reported. Here, we report on a 12-day-old patient with a de novo 15q22q23 interstitial deletion. He was born by elective cesarean section with a birth weight of 3,120 g at 41.3-week gestation. He presented with hypotonia, sensory and neural hearing loss, dysmorphism with frontal bossing, flat nasal bridge, microretrognathia with normal palate and uvula, thin upper lip in an inverted V-shape, a midline sacral dimple, severe calcanovalgus at admission, and severe global developmental delay at 18 months of age. Fluorescence in situ hybridization findings confirmed that the deleted regions contained at least 15q22. The chromosome analysis revealed a karyotype of 46,XY,del(15) (q22q23). Parental chromosome analysis was performed and results were normal. After reviewing the limited literature on interstitial 15q deletions, we believe that the presented case is the first description of mapping of an interstitial deletion involving the chromosome 15q22q23 segment in Korea. This report adds to the knowledge of the clinical phenotype associated with the 15q22q23 deletion.

Characterization of Human Foamy Virus Integrase Mutant (인간 포미바이러스 인테그라제 돌연변이의 특성)

  • Kang Seung Yi;Oh Soo A;Lee Hak Sung;Han Sung Tai;Shin Cha-Gyun
    • YAKHAK HOEJI
    • /
    • v.49 no.3
    • /
    • pp.198-204
    • /
    • 2005
  • Human foamy virus (HFV) integrase mediates integration of viral c-DNA into cellular DNA. In this process, HFV integrase recognizes its own viral DNA specifically and catalyzes insertion of viral c-DNA. In order to study catalytic domains and residues, three deletion mutants and two point mutants of HFV integrase were constructed and analyzed with respect to enzymatic activities. The C-terminal deletion mutant showed decreased enzymatic activities while the N-terminal deletion mutant lost the activities completely, indicating that the N-terminal domain is more important than the C-terminal domain in enzymatic reaction. The point mutants, in which an aspartic acid at the 164th position or a glutamic acid at the 200th position of the HFV integrase protein was changed to an alanine, lost the enzymatic activities completely. However, they were well complemented with other defective deletion mutants to recover enzymatic activities partially. Therefore, these results suggest that the aspartic acid and glutamic acid at the respective 164th and 200th positions are catalytic residues for enzymatic reaction.

CASE INFLUENCE ON MULTIPLE CORRELATION COEFFICIENT

  • KIM, Myung-Geun
    • Journal of applied mathematics & informatics
    • /
    • v.19 no.1_2
    • /
    • pp.521-525
    • /
    • 2005
  • Case deletion diagnostic for multiple correlation coefficient is considered. A method of detecting observations that can hide or create multicollinearity is suggested. A numerical example is given for illustration.

Secure Deletion for Flash Memory File System (플래시메모리 파일시스템을 위한 안전한 파일 삭제 기법)

  • Sun, Kyoung-Moon;Choi, Jong-Moo;Lee, Dong-Hee;Noh, Sam-H.
    • Journal of KIISE:Computing Practices and Letters
    • /
    • v.13 no.6
    • /
    • pp.422-426
    • /
    • 2007
  • Personal mobile devices equipped with non-volatile storage such as MP3 player, PMP, cellular phone, and USB memory require safety for the stored data on the devices. One of the safety requirements is secure deletion, which is removing stored data completely so that the data can not be restored illegally. In this paper, we study how to design the secure deletion on Flash memory, commonly used as storage media for mobile devices. We consider two possible secure deletion policy, named zero-overwrite and garbage-collection respectively, and analyze how each policy affects the performance of Flash memory file systems. Then, we propose an adaptive file deletion scheme that exploits the merits of the two possible policies. Specifically, the proposed scheme applies the zero-overwrite policy for small files, whereas it employs the garbage-collection policy for large files. Real implementation experiments show that the scheme is not only secure but also efficient.

A study on vowel lengthening with resyllabification in Old English (재음절화에 의한 장모음화 연구)

  • Lee, Bum-Jin
    • English Language & Literature Teaching
    • /
    • v.11 no.1
    • /
    • pp.137-154
    • /
    • 2005
  • The purpose of this paper is to analyze vowel lengthening triggered by resyllabification. In general, short vowels become long when a following consonant is deleted, as shown in stehli 'steel' > st$\bar{e}$li and *fimf 'five' > five. We can account for the phenomenon in a straightforward way within the framework of CV phonology (Clements & Keyser, 1983) : deletion of a coda consonant C slot and then the preceding vowel spreads onto it, resulting in a long vowel. The analysis, however, cannot hold for words like ealhes 'temple', where deletion of an onset segment eventually triggers vowel lengthening in the preceding syllable. In order to account for this, I propose resyllabification. That is, ealhes first becomes eales by /h/-deletion. Next, the /l/ in coda is resyllabified as the onset of the following syllable, leaving its C slot unoccupied. Finally, the vowel spreads onto the empty slot, producing a long vowel.

  • PDF

A Study of Deletion of the Cairene Arabic Glottal Stop /'/ (카이로 아랍어에서의 성문폐쇄음의 탈락에 대한 고찰)

  • Yi Kyu-cheol
    • Proceedings of the KSPS conference
    • /
    • 1996.10a
    • /
    • pp.75-83
    • /
    • 1996
  • The purpose of this paper is to study deletion of the Arabic glottal stop /'/ in Literary Arabic(LA) and Cairene Arabic(CA). Arabic has a diglossia structure - Literary and Colloquial Arabic. The former is the standard and written language, while the latter is the oral language used in dialects of many areas. Of the various Colloquial Arabic dialects the Cairene Arabic is the most influential and powerful dialect, hence it was chosen as the subject study. In this paper the followings are found: (1) The deletion of the Arabic glottal stop /'/ in CA is found much more frequently than that in LA. (2) In a word the deletion is found more frequently in the middle position than in the initial or final position, in which /'/ is sometimes converted weak consonants /w/ or /y/.

  • PDF

Analysis of Axial Splitting of Circular Metal Tubes by Using Element Deletion Method (요소 삭제 방법을 사용한 원형 금속 관의 축방향 파단 해석)

  • Lee, Sang-Hoon;Kim, Hyun-Gyu
    • Transactions of the Korean Society of Mechanical Engineers A
    • /
    • v.32 no.6
    • /
    • pp.496-503
    • /
    • 2008
  • With the improvement of computer power and technology, fracture modelling by finite element methods has become a topic of extensive studies. However, fracture simulation much limited to an academic study of crack propagation with a fine mesh. Element deletion method is a useful tool for estimating damage due to accidental or extreme loads on structures, provided that an effective and realistic criterion is established for simulating the material failure and subsequent element deletion. In this study, ABAQUS/Explicit is used to simulate the material failure on the basis of experimental results by X. Huang et al. Through numerical experiments, we suggest a formulation to determine the failure strain associated with the size and thickness of removed elements.

A Study of Deletion of the Cairene Arabic Glottal Stop /'/ (카이로 아랍어에서의 성문폐쇄음의 탈락에 대한 고찰)

  • Lee Gyu-Cheol
    • MALSORI
    • /
    • no.31_32
    • /
    • pp.83-95
    • /
    • 1996
  • The purpose of this paper is to study deletion of the Arabic glottal stop /'/ in Literary Arabic(LA) and Cairene Arabic(CA). Arabic has a diglossia structure - Literary and Colloquial Arabic. The former is the standard and written language, while the latter is the oral language used in dialects of many areas. Of the various Colloquial Arabic dialects the Cairene Arabic is the most influential and powerful dialect, hence it was chosen as the subject study. In this paper the followings are found: (1) The deletion of the Arabic glottal stop /'/ in CA is found much more frequently than that in LA (2) In a word the deletion is found more frequently in the middle position than in the initial or final position, in which /'/ is sometimes converted weak consonants /w/ or /y/.

  • PDF

Genetic Control of Asexual Sporulation in Fusarium graminearum

  • Son, Hokyoung;Kim, Myung-Gu;Chae, Suhn-Kee;Lee, Yin-Won
    • 한국균학회소식:학술대회논문집
    • /
    • 2014.10a
    • /
    • pp.15-15
    • /
    • 2014
  • Fusarium graminearum (teleomorph Gibberella zeae) is an important plant pathogen that causes head blight of major cereal crops such as wheat, barley, and rice, as well as causing ear and stalk rot on maize worldwide. Plant diseases caused by this fungus lead to severe yield losses and accumulation of harmful mycotoxins in infected cereals [1]. Fungi utilize spore production as a mean to rapidly avoid unfavorable environmental conditions and to amplify their population. Spores are produced sexually and asexually and their production is precisely controlled. Upstream developmental activators consist of fluffy genes have been known to orchestrate early induction of condiogenesis in a model filamentous fungus Aspergillus nidulans. To understand the molecular mechanisms underlying conidiogenesis in F. graminearum, we characterized functions of the F. graminearum fluffy gene homologs [2]. We found that FlbD is conserved regulatory function for conidiogenesis in both A. nidulans and F. graminearum among five fluffy gene homologs. flbD deletion abolished conidia and perithecia production, suggesting that FlbD have global roles in hyphal differentiation processes in F. graminearum. We further identified and functionally characterized the ortholog of AbaA, which is involved in differentiation from vegetative hyphae to conidia and known to be absent in F. graminearum [3]. Deletion of abaA did not affect vegetative growth, sexual development, or virulence, but conidium production was completely abolished and thin hyphae grew from abnormally shaped phialides in abaA deletion mutants. Overexpression of abaA resulted in pleiotropic defects such as impaired sexual and asexual development, retarded conidium germination, and reduced trichothecene production. AbaA localized to the nuclei of phialides and terminal cells of mature conidia. Successful interspecies complementation using A. nidulans AbaA and the conserved AbaA-WetA pathway demonstrated that the molecular mechanisms responsible for AbaA activity are conserved in F. graminearum as they are in A. nidulans. F. graminearum ortholog of Aspergillus nidulans wetA has been shown to be involved in conidiogenesis and conidium maturation [4]. Deletion of F. graminearum wetA did not alter mycelial growth, sexual development, or virulence, but the wetA deletion mutants produced longer conidia with fewer septa, and the conidia were sensitive to acute stresses, such as oxidative stress and heat stress. Furthermore, the survival rate of aged conidia from the F. graminearum wetA deletion mutants was reduced. The wetA deletion resulted in vigorous generation of single-celled conidia through autophagy-dependent microcycle conidiation, indicating that WetA functions to maintain conidia dormancy by suppressing microcycle conidiation in F. graminearum. In A. nidulans, FlbB physically interacts with FlbD and FlbE, and the resulting FlbB/FlbE and FlbB/FlbD complexes induce the expression of flbD and brlA, respectively. BrlA is an activator of the AbaA-WetA pathway. AbaA and WetA are required for phialide formation and conidia maturation, respectively [5]. In F. graminearum, the AbaA-WetA pathway is similar to that of A. nidulans, except a brlA ortholog does not exist. Amongst the fluffy genes, only fgflbD has a conserved role for regulation of the AbaA-WetA pathway.

  • PDF