• Title/Summary/Keyword: 상염색체우성 유전

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Review of Adult Polycystic Liver Disease on Ultrasonography (초음파 검사에서 성인의 다낭성 간질환에 대한 고찰)

  • Sim, Hyun-Sun;Jung, Hong-Rayng;Lim, Chung-Hwan
    • The Journal of the Korea Contents Association
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    • v.8 no.10
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    • pp.217-223
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    • 2008
  • Adult polycystic liver disease (PLD) is a rare, benign condition association with autosomal dominant polycystic kidney disease (ADPKD). It is an autosomal dominantly inherited disorder characterized by multiple diffuse cystic lesions of the liver parenchyma. Significant symptoms or complications from liver involvement can occur cases. Surgical therapy is the mainstay of therapy including laparoscopic or open fenestration with or without hepatic resection and orthotopic liver transplantation. We report the literature addressing the presence of abdominal discomport, a case of a patient with PLD. This case showed the typical ultrasonogaphic and computer tomogaphic findings of this disease.

Linkage Group Analysis of Profenofos Resistance in the Housefly(Diptera: Mucsidae) (Profenofos에 대한 집파리(Musca domestica L.) 저항성 유전자의 연쇄군 해석)

  • 박정규;정야준부;안용준
    • Korean journal of applied entomology
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    • v.35 no.2
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    • pp.159-163
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    • 1996
  • The profenofos-resistant P-Pro strain of house fly (Muscn domestica L.) was derived from the pyraclofos-resistant strain by selecting with profenofos for 7 generations. The resistance was shown to be incompletely dominant by the reciprocal crosses between the resistant and susceptible strains. Linkage group analysis for the dominant factor responsible for this resistance was carried out by the F, male-backcross method, using susceptible multi-chromosomal marker strain. The major factors for profenofos resistance were located on the second and the fifth chromosome and the other chromosomes had a little effect on the development of this resistance. The male determining factor (M) was linked to the third chromosome in this strain.

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Development of Bialaphos Resistant Transgenic Tabacco Plants by Pollination and Utilization of Fertilization Cycle (수분ㆍ수정 시기를 이용한 Bialaphos 저항성 형질전환 담배의 개발)

  • ;;;;;;Toshiaki KAMEYA
    • Korean Journal of Plant Tissue Culture
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    • v.21 no.2
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    • pp.99-103
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    • 1994
  • The herbicide bialaphos is a potent inhibitor of glutamine synthetase in higher plants. A bialaphos resistance (bar) gene encoding for an acetyltransferase was isolated from genomic DNA of Pseudomonas syringae pv tabaci. The bar gene was ligated to the binary vector pBI121. Pistils of tobacco plane were heated with the bar gene containing plasmid DNA at various times after pollination. When the treatment was applied at 30 and 40 h after pollination, a number of transgenic plants were obtained. Premary transformation (T$_{0}$ generation) and their progenies (T$_1$T$_2$) were resistant to both bialaphos and kanamycin at a dosage lathal to untransformed control plants. Stable integration of bar gene into chromosomal DNA was proven by Southern blot analysis of genomic DNA isolated from T$_1$progenies. These results show that the bialaphos resistant plane could be obtained by treatment to pistils with the exgenous bar gene through the fertilization cycle of tobacco.o.

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Proximal Symphalangism and Congenital Stapes Fixation (기부지절유합증을 동반한 선천성등골고정증)

  • 이철희;박영원;김종선;노관택
    • Proceedings of the KOR-BRONCHOESO Conference
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    • 1981.05a
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    • pp.41.1-41
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    • 1981
  • The combination of congenital stapes fixation and proximal symphalangism has been described in several kindreds. It exhibits autosomal dominant inheritance. A patient, 11-year-old female, visited department of otolaryngology of SNUH in December, 1980. Her complaint was bilateral hearing loss since birth. Physical examination revealed fusion of proximal interphalangeal joints of both 4th and 5th fingers. Tympanic membrane was normal. Temporal bone X-ray was normal. Pure tone audiogram revealed about 60 dB conductive loss with horizontal curve. On exploratory tympanotomy of right side, bony fixation of stapedial footplate was found. So, stapedectomy with connective tissue wire prosthesis was performed. As a result, marked improvement of hearing was obtained with 5 dB A-B gap on operated side.

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Cross-resistance and Inheritance of Resistance in Laboratory-selected Strains of the Brown Planthopper(Nilaparvata lugens Stal) (벼멸구의 저항성 유발, 교차저항성 및 저항성 유전에 관한 연구)

  • 박형만;최승윤
    • Korean journal of applied entomology
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    • v.30 no.1
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    • pp.1-9
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    • 1991
  • Cross-resistance and inheritance of resistance in laboratory-selected strains of the brown planthopper to various types of the insecticides were investigated. The fenobucarb-selected ($R_{f}$), carbofuran-selected($R_{c}$), and diazinon-selected($R_{d}$) strains were 50.3, 49.2 and 5.8 times less sensitive to the corresponding insecticides than th susceptible strain. both $R_{f}$ and $R_{c}$ strains were highly resistant to the other carbamate insecticides, and moderately resistant to cypermethrin and deltamethrin, but nearly not resistant to fenvalerate and the organophosphorus insecticides except malathion and phenthate. Moderate resistance to malathion and phenthoate in the $R_{f}$ and $R_{c}$ strains was obtained at the rate of 13.0-12.0 and 8.5-7.5 times, respectively. The $R_{d}$ strain showed low levels of resistance to the carbamate, organophosphorus and pyrethroid insecticides, but negatively correlated cross-resistance to fenvalerate. Resistance of the brown planthopper to all the test insecticides was inherited by partially dominant autosomal factor(s).

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Transcatheter Arterial Embolization of a Ruptured Superior Rectal Artery Aneurysm in Type 1 Neurofibromatosis: A Case Report (신경섬유종증 1형에서 발생한 파열된 상직장동맥류의 경도관 동맥 색전술: 증례 보고)

  • Se Jin Park;Young Hwan Kim;Ung Rae Kang;Seung Woo Ji
    • Journal of the Korean Society of Radiology
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    • v.81 no.3
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    • pp.726-732
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    • 2020
  • Neurofibromatosis type 1 (NF1) is a common autosomal-dominant disorder. Vasculopathies associated with NF1 are rare and can cause aneurysms, stenoses, and arteriovenous malformations. Aneurysms may rupture spontaneously, which could be fatal. Spontaneous mesenteric hemorrhage due to rupture of an inferior mesenteric artery aneurysm associated with NF1 has rarely been reported. Herein, we report a case of spontaneous rupture of a fusiform aneurysm in the superior rectal artery in a 56-year-old woman with NF1 who was successfully treated with transcatheter arterial embolization.

Usefulness of Mouth Guard when the Endotracheal Intubation Is Indicated for Treacher Collins Syndrome Patient (Treacher Collins 증후군 환아의 기관 삽관 시 마우스가드의 활용)

  • Choi, Haein;Choi, Byungjai;Choi, Hyungjun;Song, Jeseon;Lee, Jaeho
    • Journal of the korean academy of Pediatric Dentistry
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    • v.41 no.1
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    • pp.40-46
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    • 2014
  • Treacher Collins syndrome (TCS) is autosomal dominant disorder that occurs approximately 1 in 25,000 to 50,000 live births. The main signs of syndrome are hypoplasia of facial bone and microtia. One in third of them is associated with cleft palate and often shows dental hypoplasia. TCS patients need several number of surgery with general anesthesia throughout their life time for recovery of function and esthetic. Endotracheal intubation of TCS patient is very difficult due to microstomia, retrognathia, choanal stenosis, and decreased oropharyngeal airway. Therefore, general anesthesia of adolescent TCS patient with immature incisor roots has high risk of causing dental trauma. This case is regarding TCS patient who was referred to the Department of Pediatric Dentistry, Yonsei University for avulsed upper left central incisor during endotracheal intubation. The purpose of this report is to emphasize the usefulness of mouth guard to prevent dental trauma when endotracheal intubation is needed for TCS patient.

Linkage Analysis of the Resistance Genes to Whitebacked Planthopper (Sogatella furcifera Horvath) in Rice (수도의 흰등멸구(Sogatella furcifera Horvath)에 대한 저항성 유전자 연관분석)

  • ;Mun-Hue Heu
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.29 no.2
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    • pp.136-151
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    • 1984
  • The purpose of this study is to find out the linkage relationship of the resistance genes Wbph1 and Wbph2 which are known to be present in the rice cultivar N22 and ARC 10239 respectively, with the genetic markers which are identified as the specific linkage tester. Crosses were made between the resistant parents and the genetic marker stocks and their F$_2$ populations were grown out in the field. The genetic segregations of the marker character were studied and the seeds were harvested individual plant base. These F$_3$ seeds were grown into plant-line base in the greenhouse and their responses to the whitebacked planthopper were tested. Then the linkage relationship between the F$_2$ plant marker character and the F$_3$ resistance responses to the whitebacked planthopper were examined. In the F$_2$ generation of the crosses between the resistant parent N22 and the genetic marker stocks, the genetic markers, such as lg, d-t, g, la, bl and gl, showed the segregation of 3 dominance to 1 recessiveness, and the Bh marker segregated into 9:7 ratio. Another 4 marker genes, such as Cl, gh, Lh and bc, did not show the good fittness to the expected value. In the F$_2$ generation of the crosses between the resistant parent ARC 10239 and the genetic marker stocks, the genetic markers, such as Cl, lg, Pn, g, la, bl and gl, showed the segregation of 3 dominance to 1 recessiveness, and the Bh gene segregation fitted well to the 9:7. The rest 4 genetic markers, such as gh, Lh, nl and be, did not show the good fitness to the expected ratio. The resistance genes Wbphl of N22 and the Wbph2 of ARC 10239 appeared to be single dominant gene each. The Wbphl gene was linked with the marker gene, liguleless (lg) of linkage group II with the recombination value of 36.8%, and with the black hull (Bh) with the value of 35.9%. The Wbph2 gene appeared to be independent of all the markers tested here, such as Cl, lg, Pn, g, Lh, la, nl, bl, bc, gl, Bh, of linkage gtoup I, II, III, IV, VI, VII, VIII, IX, X, XI, and XII respectively. That the Wbph2 linkage relations were not investigated was regarded as the causes that the tested marker genes on the chromosome were located with the resistance gene at the distant loci, and of the phenctypic properties of the marker characters. The Wbph2 linkage relations should be reexamined in the cross combinations of linkage group Ⅶ, Ⅷ, Ⅹ and XII including linkage group V which was not tested in this experiment.

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