• 제목/요약/키워드: Albinism

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전신성 백색증(Oculocutaneous albinism) 환아의 증례 보고 (OCULOCUTANEOUS ALBINISM : A CASE REPORT)

  • 최지은;최남기;김선미;양규호
    • 대한소아치과학회지
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    • 제35권4호
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    • pp.713-717
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    • 2008
  • 백색증(albinism)이란 신체 내 melanin 합성의 부분적, 혹은 완전한 결핍에 의해 일어나는 질환이다. Melanin은 신체 내에서 머리카락, 눈, 피부 등에 분포하기 때문에 백색증 환자는 밝은 금발이나 갈색의 머리카락과 하얀 피부, 붉거나 갈색의 홍채를 갖는 특징적인 외모를 지닌다. 백색증 환자는 변이된 유전자 및 임상적 특징에 따라 크게 전신성 백색증, 안성 백색증, 부분적 백색증으로 나뉘며 그 밖에 많은 하위군이 존재하고 그에 따른 치료법이나 치과적 주의사항도 달라진다. 본 증례는 치아의 발육지연 여부 평가를 주소로 내원한 정신 지체가 동반된 전신성 백색증 환아로서 치아 발거 등의 관혈적 시술 및 보존수복, 공간 유지장치 등의 치료를 통해 양호한 결과를 보였기에 이를 보고하는 바이다.

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양식산 넙치, Poralichthys olivaceus의 가성 백색증 (pseudo-albinism) 발현에 미치는 환경인자들의 영향 (Effects of Environment factors on the Occurrence of Pseudo-albinism in Cultured Flounder, Paralichthys olivaceus)

  • 강덕영;김효찬;김종현;김경길;명정인
    • 한국수산과학회지
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    • 제40권4호
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    • pp.234-242
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    • 2007
  • We examined the cause of albinism in a hatchery population of flounder in terms of environmental and nutritional factors, including the effects of light intensity (130-12,300 lux), photoperiod (12L/12D or 24L/0D), tank substrate (concrete or fiber-reinforced polymer), tank color (white or dark green) and supplement with enriched live food, and also compared the growth of normal and albino fry under both 12L/12D and 24L/0D. Further to, normalization of the skin pigmentation pattern on the ocular side has been juvestigated after rearing the albino fry for 2 years after their identification and classification and found that, light intensity did not play a critical role in the development of normal pigmentation or albinism in the flounder. By contrast, the photoperiod was a weak inducer of albinism in the flounder. Tank substrate and color also affected the hypomelanosis on the ocular side of the flounder fry. The choice and supplementation of enriched live foods could drastically reduce the incidence of albinos in hatcheries. On comparing the growth of normal and albino fry, while there was no difference between the groups under 24L/0D, the growth of the albino flounder was slower under 12L/12D. Although coloration resulting from xanthophore and melanophore, but not iridophores, occurred on the ocular side, evidence of albinism remained on the ocular side of flounders.

Oculocutaneous albinism in a calf in Korea

  • Kim Bum-Seok;Camer Gerry Amor;Chekarova Irina;Zeeshan Muhammad;Borisova Irina;Blank Ivar;Ejaz Sohail;Park Hee-Jin;Kwon Jung-Kee;Lim Chae-Wong
    • 한국동물위생학회지
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    • 제29권4호
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    • pp.489-492
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    • 2006
  • Albinism, characterized by absence or lack of pigmentation from the hair, skin, hooves, nasal region and the eyes is rarely seen in cattle in Korea. A 15-day old calf, approximately weighing 28 kg has been conspicuously distinct from the rest of 40 herds of cattle raised in Sunchang country because of its white coat color, white muzzle and hooves and eyes with light pinkish iris. The calf was born of Korean indigenous cattle with no previously reported history of albinism since inception of the farm for over a decade period. It was assumed as a form of recessive genetic disorder. This observation was documented to present occurrence of albinism in cattle in Korea.

넙치 변태기에 있어 저수온 스트레스가 갑상선 호르몬과 백화현상에 미치는 영향 (Effect of Thyroid Hormones and Albinism during Metamorphosis of Flounder, Paralichthys olivaceus under Low Temperature Stress)

  • 유진형;;정관식
    • 한국수산과학회지
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    • 제36권1호
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    • pp.65-67
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    • 2003
  • Flounder (Paralichthys olivaceus) fish goes through metamorphosis in the larvae phase. In this phase, it secretes much thyroid hormone to control metamorphosis. Sharp change in the environment and nutrition deficiency may cause stress in the metamorphosis phase. It leads to interfering with the development of thyroid hormone and finally inhibits the normal growth of larvae. In this study, the correlation between the change in thyroid hormones and the albinism appearance was examined by growing them with low temperature ($13^{\circ}C$) stress over the premetamorphosis stages (stage $D\~F$) of flounder metamorphosis. Albinism rate was $15\%$ in the low temperature group and $25\%$ in the control goup. $T_{4}\;and\;T_{3}$ of the control group tended to increase from stage F as larvae grew. $T_{4}$ increased 2 times compared to the control group as 72 ng/g at stage H, the increasing phae of water temperature, in the low temperature group. $T_{3}$ increased 8 times compared to the control group as 2.9 ng/g at stage E, the decreasing phase of water temperature. Therefore, it is judged that the albinism appearance of flouner is caused from the sharp increase in $T_{3}$ by the inappropriate secretion of thyroid hormone.

양식산 넙치의 백화현상에 따른 아미노산 조성의 비교 (Comparison of Amino Acid by Appearance of Albinism in Cultured Flounder Paralichthys olivaceus)

  • 김종현
    • 한국식품영양학회지
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    • 제12권5호
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    • pp.496-501
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    • 1999
  • Albinism is a phenomenon that color of the body surface is changed to white orfaint brown from the specific color to the species by difficiency of pigments due to mutation or disease. This study was undertaken to investigate the experimental basis on the appearance of albinism in cultured flounder Paralichthys olivaceus. The skin and muscle from the normal and albinic flounder were used by measuring contents of amino acid free amino acid. The results were summarized as follows: Contents of amino acid in theskin and muscle are different from normal and albinic flounder. Phenolic and sulfuric amino acids in the skin of normal flounder were 2 times those of albinic ones. Especially tyrosine contents of the skin in normal flounder were 24 times higher than those. Methionine was 26 times higher than those Phenylalanine was 1.6 times higher. In free amino aicd phosphoserine and phosphoethanolamine were a little higher than that ones. The melanin formation of the skin in flounder was affected by substrates such as phenolic amino acid and cofactor such as sulfuric amino acid.

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양식산 넙치의 백화현상에 따른지질 및 지방산의 비교 (Comparison of lipid and Fatty Acid by Appearance of Albinism in Cultured Flounder Paralichthys olivaceus)

  • 김종현
    • 한국식품영양학회지
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    • 제12권5호
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    • pp.502-507
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    • 1999
  • Albinism is a phenomenon that color of the body surface is changed to white or faint brown from the specific color to the species by difficiency of pigments due to mutation or disease. This study was undertaken to investigate the experimental basis on the appearance of albinism in cultured flounder Paralichthys olivaceus. The skin and muscle, from the normal and albinic flounder were used by measuring contents of lipid and fatty acid, Contents of lipid and fatty acid in the skin and muscle are different from normal and albinic flounder. Contents of lipid in the skin were higher than those of muscle from flounder. The major fatty acids in both skin and muscle were palmitic acid, oleic acid docosahexaenoic acid (DHA) and eicosapentaenoic acid(EPA).

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Proteome analysis of chloroplast proteins in stage albinism line of winter wheat (triticum aestivum) FA85

  • Hou, Dian-Yun;Xu, Hong;Du, Guang-Yuan;Lin, Jun-Tang;Duan, Min;Guo, Ai-Guang
    • BMB Reports
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    • 제42권7호
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    • pp.450-455
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    • 2009
  • The "stage albinism line of winter wheat" FA85 was a specific natural mutant strain on leaf color. This physiological mutation was controlled by cytogene. In order to reveal the genetic and biochemical mechanism of albinism, 2-DE was used to investigate the difference of chloroplast protein expression pattern between FA85 and its parent wheat Aibian 1. From the results of 2-DE gels analysis, approximately 683 spots were detected on each gel, and 57 spots were expressed differently at least two-fold. Using MALDI-TOF/TOF MS, 14 of 57 spots were identified, which could be categorized into four classes: carbon metabolism, energy metabolism, defense/stress response and signal transduction. Compared with the parent wheat, the expression of ATPase-$\gamma$ and GP1-$\alpha$ was up-regulated in FA85, and of other proteins was down-regulated. Together, we concluded that the expression of chloroplast proteins had changed obviously in FA85, which might be related to the leaf color mutant.

묵납자루, Acheilognathus signifer의 Oculocutaneous Albinism에 대한 조직학적 연구 (Histological Study of Oculocutaneous Albinism in the Korean Bitterling, Acheilognathus signifer (Osteichthyes; Cyprinidae))

  • 오민기;박종영;유민정;강언종;양상근;김응오;조용철;박인석;김치홍
    • 한국어류학회지
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    • 제20권3호
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    • pp.167-172
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    • 2008
  • 한국고유종이자 멸종위기종인 묵납자루, Acheilognathus signifer의 종보존을 위한 인공발생 및 사육이 진행되는 동안 눈과 피부 전반에 걸쳐 색소의 발현이 결핍된 oculocutaneous albinism 개체가 출현하였다. 정상과 알비노간의 형태적 차이 여부를 알아보기 위해 등 피부와 안구의 맥락막-망막 조직을 적출하여 조직학적 분석을 실시하였다. 그 결과 일반적인 형태는 서로 차이가 없었으나 멜라닌색소의 발현에서 현저한 차이를 보였다. 정상 묵납자루는 등 피부의 표피와 진피, 맥락막-망막색소상피층 및 홍채에 많은 수의 멜라닌세포와 흑색소포가 존재한 반면, 알비노의 등 피부에서는 색소가 거의 존재하지 않았고 맥락막-망막색소상피층과 홍채에서는 매우 제한된 분포를 보였다.

긴몰개 Squalidus gracilis majimae의 피부백색증에 대한 조직학적 연구 (Histological Study on Cutaneous Albinism of Korean Slender Gudgeon Squalidus gracilis majimae from Korea)

  • 이용주;박종영;오민기
    • 한국어류학회지
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    • 제21권3호
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    • pp.208-213
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    • 2009
  • 긴몰개 Squalidus gracilis majimae 백색증 개체가 자연에서 발견되어 조직학적 분석을 통해 정상개체와의 차이를 비교하였다. 백색증 개체는 정상 개체에 비해 체색의 발현이 이루어지지 않았다. 등, 체측, 배, 미병부 상부, 미병부 하부, 등 뒷지느러미 및 안구조직에 대한 조직형태에서는 정상과 백색증 개체간 차이가 없었으나 멜라닌 색소의 분포 및 발현량에서 차이를 보였다. 정상 개체의 경우, 멜라닌 색소는 배쪽을 제외한 모든 부위에서 잘 발달한 모습을 볼 수 있었다. 그러나 백색증 개체의 경우, 멜라닌 색소는 눈과 몸통의 위쪽부위에서 매우 희미하게 관찰되었고, 아래쪽 부위(배, 미병부 하부, 뒷지느러미)에서는 전혀 발견되지 않았다. 이러한 멜라닌 색소의 분포는 빛과 연관이 있을 것으로 추측되었다.

Morphological Specificity in Cultured Starry Flounder Platichthys stellatus Reared in Artificial Facility

  • Kang, Duk-Young;Lee, Jong-Ha;Kim, Won-Jin;Kim, Hyo-Chan
    • Fisheries and Aquatic Sciences
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    • 제15권2호
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    • pp.117-123
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    • 2012
  • The starry flounder Platichthys stellatus, like all flatfish, exhibits conspicuous lateral asymmetry in numerous traits, most obvious of which is the migration of one eye to the other side of the head during metamorphosis. Additional changes related to eye migration include asymmetrical pigmentation, and a behavioral shift from larvae that exhibit upright, open-water swimming to juveniles and adults that lie on the ocean floor, eye side up. However, the morphology of these juveniles has been quite plastic in recent years, a phenomenon which is thought to be related to a diverse suite of semi-intensive and intensive larviculture methods. The cause of morphological abnormalities in the farmed flatfish is poorly understood. In the present study, we observe the features of morphological specificity and abnormality of immature fish (mean total length 23 cm) and survey the occurrence frequency of the specificity and abnormality of juvenile (mean total length 6.70 cm) in artificial culture facility. We find 2 types of abnormality (e.g., albino in ocular side and hypermelanosis in blind side) and 1 type of specificity (e.g., lateral polymorphism). These considerably differ from normal individuals (has sinistral eye and pigmented on only one side) by several characteristics (dextral eye, ocular side albinism, blind side hypermelanosis). The incidences of albinism, hypermelanosis, and body reversal are $10.1{\pm}2.56%$, $91.7{\pm}1.7%$, and $13.1{\pm}1.1%$, respectively. These suggest that these morphometric and morphological differences occur more in artificial environment during and just after metamorphosis.