• 제목/요약/키워드: Deletion

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선천성 양측 성대마비와 13번 염색체 장완 결실이 동반된 비증후군성 간내담도부족증 1례 (A Case of Nonsyndromic Intrahepatic Bile Duct Paucity with Congenital Bilateral Vocal Cord Paralysis and 13q Deletion)

  • 정주영;이정수;김병의;최명재;박동철;김상우;강경훈
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • 제4권1호
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    • pp.108-112
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    • 2001
  • Nonsyndromic intrahepatic bile duct paucity is known to be associated with several kinds of etiology such as infection, chromosomal anomaly, metabolic disease and idiopathic. We report a rare case of intrahepatic bile duct paucity with congenital bilateral vocal cord paralysis and 13q deletion.

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Deletion Mutageneses of the Helicobacter pylori Urease Accessory Genes

  • Lee, Mann-Hyong;Sung, Jae-Young
    • Journal of Life Science
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    • 제9권1호
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    • pp.5-8
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    • 1999
  • Helicobacter pylori is the etiologic agent of human gastritis and peptic ulceration and produces urease as the major protein component on its surface. H. pylori urease is known to serve as a major virulence factor and a potent immunogen. Deletion mutageneses were performed in the H. pylori urease accessory genes by using combinations of restriction enzymes and other DNA modifying enzymes in order to assess the function of these accessory gene products in the expression of the active urease. Selective disruptions in the accessory gene regions resulted in complete abolishment of the urease activity, which is consistent with other bacterial ureases. Interestingly, deletions in ureE-containing regions caused reduced expression of the structural enzyme subunits.

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Effects of R100 Mutant MerR on Regulation of mer Operon from Shigella flexneri

  • Yoon, Kyung-Pyo
    • Journal of Microbiology and Biotechnology
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    • 제4권4호
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    • pp.245-249
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    • 1994
  • An amino-terminal 14 amino acids deletion and three site-directed mutations were created to investigate the mechanism of induction and repression of MerR regulatory protein in R100 mer operon from gramnegative Shigella flexneri. The amino-terminal 14 amino acids deletion, Cysl17Ser, and Cys126Ser mutations abolished the inducibility of the mer operon and the Hisl18Ala mutation resulted in the reduction of inducibility (about 9.1 % remaining) in complementation experiment in the presence of $Hg^{2+}$ at subtoxic level ($1\mu M$). The complementation experiment with $Hg^{2+}$ absent showed that Hisl18Ala, Cys126Ser, and wild-type MerR could repress the operon but Cysl17Ser could not, and the amino-terminal deletion mutant could neither induce nor repress the R100 mer operon.

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한국어 음운론의 음보 (Metrical Foot in Korean Phonology)

  • 이상직
    • 대한음성학회지:말소리
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    • 제25_26호
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    • pp.38-51
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    • 1993
  • Korean phonology has not recognised metrical foot as a phonological unit to account for certain phonological processes. This paper, however, suggests that an optional h-deletion process in Korean should require the notion of metrical foot as an independent phonological domain. The previous analyses rely on the notion of speech speed to explain optional h-deletion : i. e. an intervocalic h is deleted in fast speech, but in slow speech it remains. This paper claims that the notion of speech speed should be reinterpreted in terms of metrical foot : i.e. foot-internal t is deleted, but foot-initial h remains. Such analysis provides evidence that metrical foot constitutes a phonological unit in Korean phonology. With the notion of metrical foot, it enables us to achieve more detailed and accurate analysis of the optional h-deletion process in Korean.

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LAMMER Kinase Lkh1 Is an Upstream Regulator of Prk1-Mediated Non-Sexual Flocculation in Fission Yeast

  • Park, Yoon-Dong;Kwon, Soo Jeong;Bae, Kyung Sook;Park, Hee-Moon
    • Mycobiology
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    • 제46권3호
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    • pp.236-241
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    • 2018
  • The cation-dependent galactose-specific flocculation activity of the Schizosaccharomyces pombe null mutant of $lkh1^+$, the gene encoding LAMMER kinase homolog, has previously been reported by our group. Here, we show that disruption of $prk1^+$, another flocculation associated regulatory kinase encoding gene, also resulted in cation-dependent galactosespecific flocculation. Deletion of prk1 increased the flocculation phenotype of the $lkh1^+$ null mutant and its overexpression reversed the flocculation of cells caused by lkh1 deletion. Transcript levels of $prk1^+$ were also decreased by $lkh1^+$ deletion. Cumulatively, these results indicate that Lkh1 is one of the negative regulators acting upstream of Prk1, regulating non-sexual flocculation in fission yeast.

공명음 사이의 /ㅎ/의 실현에 대한 음성, 음운론적 고찰 (A study on the realization of /h/ between sonorant sounds)

  • 차재은;정명숙;신지영
    • 대한음성학회:학술대회논문집
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    • 대한음성학회 2003년도 5월 학술대회지
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    • pp.48-51
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    • 2003
  • The purpose of this paper is to research the realization of /h/ between sonorant sounds. For this purpose, we analyze speech of 5 people using standard Korean. As a result, we can find that the possibility of deletion of /h/ is increasing, when speech rate is high, the AP has more syllables, and /h/ is far from the AP-initial. While the position of AP or IP has no relation to realization of /h/. The deletion of /h/ is more often in this order. Followed segments: lateral>nasal>vowel, following segments: vowel>glide. And there is no change on duration of following vowel after /h/ deletion.

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한국인 묘성증후군 20명 환자에서의 5p 결실 양상 분석 (The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome)

  • 박상진;김숙령;백금녀;윤준노;정은정;권지은;김현주
    • Journal of Genetic Medicine
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    • 제4권2호
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    • pp.133-141
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    • 2007
  • 목 적:임상증상으로 정신지체, 발육부진, 소두증 등으로 묘성 증후군(Cri du Chat syndrome, CdCs)으로 의뢰된 20명 환자와 부모를 포함한 분자 및 세포유전학적 결과를 분석하므로, 유전형과 표현형과의 상관관계를 고찰하고자 하였다. 방 법:환자와 부모에 대해 분자세포유전학적(FISH, CGH array)및 세포유전학적 분석을 시행하였고, 이와 함께 임상양상에 대한 비교분석을 시행하였다. 결 과:20명 환자에 대한 5p 결실 양상에 대한 분석 결과 del(5)(p14)이 9명(45%)로 가장 많았으며, del(5)(p13)이 7명(35%), del(5)(p15.1)(15%)이 3명, del(5)(p15.2)이 1명(5%) 순의 결실 양상을 확인하였다. 또한 4명(20%)에서는 5p 결실 외에 다른 염색체(6, 8, 18, 22번)의 결실과 중복이 있음이 확인 되었고, 이중 3명의 환자는 부모 중 한 사람의 균형적 전자에서 기원한 불균형 전자 유형이었다(기원은 부계 2명, 모계 1명). 그리고 5p 결실 부위와 다른 염색체 이상 공존 여부에 따라 매우 다양한 임상적 양상을 나타내었다. 결 론:이와 같이 묘성증후군 환자와 부모를 포함하는 5번 염색체 단완의 결실양상에 대한 분자 세포 유전학 분석에 의한 정확한 결실 부위의 확인과 다른 염색체 이상의 결손과 증폭의 공존 여부를 확인함으로써 유전형과 임상적 표현형과의 상관관계를 이해하는데 유용할 것이라 생각된다. 나아가 묘성 증후군 환자와 가족에 대한 효과적인 유전상담에 도움이 될 것이라 사료된다.

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Bacillus subtilis DEAD-Box RNA Helicase 유전자 결손 균주들의 저온 민감성 생장 (Cold-Sensitive Growth of Bacillus subtilis Mutants Deleted for Putative DEAD-Box RNA Helicase Genes)

  • 오은하;이상수
    • 미생물학회지
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    • 제46권3호
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    • pp.233-239
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    • 2010
  • Bacillus subtilis에 존재하는 DEAD-box RNA helicase에 대한 유전자 상동성 검색을 통해 yqfR, yfmL, ydbR, deaD 의 4종류의 유전자를 확인하였고 이들 유전자 각각의 결손 돌연변이체를 제조하였다. 이들 돌연변이체들의 특성을 알아보기 위하여 LB 배양액을 사용하여 여러 온도에서의 생장 속도를 조사하였다. LB 배양액에서 $37^{\circ}C$의 생장 결과 ydbR 결손 균주가 다소 생장이 느려지나($T_d$=53 min) 다른(yqfR, yfmL, deaD) 결손 돌연변이체들은($T_d$=30-40 min) 결손이 없는 야생형 균주 CU1065와($T_d$=32 min) 유사하였다. 반면에 $22^{\circ}C$에서의 생장은 CU1065 ($T_d$=102 min)에 비해 yqfR ($T_d$=151 min), yfmL ($T_d$=214 min), ydbR ($T_d$=343 min) 결손 균주 순으로 생장속도가 느린 저온 민감성을 보인다. deaD의 $22^{\circ}C$에서의 생장 속도는 ($T_d$=109 min) CU1065와 ($T_d$=102 min) 매우 유사하여 저온 민감성을 보이지 않았다. 그리고 이들 유전자들의 이중, 삼중, 사중의 결손 균주들을 제조하였고, 여러 온도에서 ($42^{\circ}C$, $37^{\circ}C$, $22^{\circ}C$) LB 배양액을 사용하여 생장 속도를 측정 하였다. 다중 결손은 단일 결손보다 더 심한 저온 민감성을 보이며, 이중 결손의 경우, ydbR과 yfmL의 결손이 다른 조합의 결손보다 보다 큰 저온 민감성을 나타내었다 ($T_d$=984 min). 이러한 저온 민감성은 E. coli의 csdA 혹은 srmB 결손의 결과와 유사하며 리보솜 조립과 관련이 있는 생리적 기능으로 보인다.

Evaluation of trace mineral source and preharvest deletion of trace minerals from finishing diets on tissue mineral status in pigs

  • Ma, Y.L.;Lindemann, M.D.;Webb, S.F.;Rentfrow, G.
    • Asian-Australasian Journal of Animal Sciences
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    • 제31권2호
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    • pp.252-262
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    • 2018
  • Objective: An experiment was conducted to evaluate dietary supplemental trace mineral source and deletion on mineral content in tissues. Methods: Weanling crossbred pigs (n = 144; 72 barrows and 72 gilts; body weight [BW] = $7.4{\pm}1.05kg$) were used. A basal diet was prepared, and trace mineral premix containing either inorganic (ITM) or organic (OTM) trace minerals (Cu, Fe, Mn, and Zn) was added to the basal diet. Pigs were blocked by sex and BW and randomly allotted to 24 pens for a total of 6 pigs per pen, and fed a diet containing either ITM or OTM supplemented at the 1998 NRC requirement estimates for each of 5 BW phases (Phase I to V) from 7 to 120 kg. The trace mineral supplementation was deleted for 6, 4, 2, and 0 wk of Phase V; regarding nutrient adequacy during this phase, the indigenous dietary Fe and Mn was sufficient, Cu was marginal and Zn was deficient. Results: At the end of Phase IV, Mn content (mg/kg on the dry matter basis) was greater (p<0.05) in heart (0.77 vs 0.68), kidney (6.32 vs 5.87), liver (9.46 vs 8.30), and longissimus dorsi (LD; 0.30 vs 0.23) of pigs fed OTM. The pigs fed OTM were greater (p<0.05) in LD Cu (2.12 vs 1.89) and Fe (21.75 vs 19.40) and metacarpal bone Zn (141.86 vs 130.05). At the end of Phase V, increased length of deletion period (from 0 to 6 wk) resulted in a decrease (linear, p<0.01) in liver Zn (196.5 to 121.8), metacarpal bone Zn (146.6 to 86.2) and an increase (linear, p<0.01) in heart Mn (0.70 to 1.08), liver Mn (7.74 to 12.96), and kidney Mn (5.58 to 7.56). The only mineral source by deletion period interaction (p<0.05) was observed in LD Zn. Conclusion: The results demonstrated differential effects of mineral deletion on tissue mineral content depending on both mineral assessed and source of the mineral.