• Title/Summary/Keyword: 유전적 소인

Search Result 254, Processing Time 0.038 seconds

The Understanding of Depression Subtypes (우울증 아형들의 이해)

  • Han, Chang-Hwan;Ryu, Seong Gon
    • Korean Journal of Biological Psychiatry
    • /
    • v.8 no.1
    • /
    • pp.20-36
    • /
    • 2001
  • The debate about whether depressive disorders should be divided into categories or arrayed along a continuum has gone for decade, without resolution. In our review, there is more evidence consistent with the spectrum concept than there is with the idea that depressive disorders constitute discrete clusters marked by relatively discontinuous boundaries. First, "depression spectrum", "is there a common genetic factors in bipolar and unipolar affective disorder", "threshold model of depression" and "bipolar spectrum disorder" are reviewed. And, a new subtype of depression is so called SeCA depression that is a stressor-precipitated, cortisol-induced, serotonin-related, anxiety/aggression-driven depression. SeCA depression is discussed. But, there is with the idea that depressive disorders constitute discrete subtypes marked by relatively discontinuous boundaries. This subtypes of depressive disorder were reviewed from a variety of theoretical frames of reference. The following issues are discussed ; Dexamethasone suppression test(DST), TRH stimulation test, MHPG, Temperament Character Inventory(TCI), and heart rate variability(HRV).

  • PDF

Hypoplagia of Right Clavicle Associated with Neurofibromatosis (A Case Report) (쇄골의 저형성을 동반한 신경섬유종증(증례보고))

  • Choi Chang-Hyuk;Kwun Koing-Woo;Kim Shin-Kun;Lee Sang-Wook;Yun Gi-Hyun;Kim Yong-Jin
    • Clinics in Shoulder and Elbow
    • /
    • v.1 no.1
    • /
    • pp.132-137
    • /
    • 1998
  • Neurofibromatosis is characterized by its skeletal involvement and cutaneous manifestation. Some patients develop focal area of hypoplasia and atrophy at limbs. We present the case of a 13-year-old boy with a fracture of the hypoplastic clavicle associated with neurofibromatosis and brownish cutaneous macules. The patient received open reduction and internal fixation with a semitubular plate and biopsy was done in order to clarify the pathology.

  • PDF

Genetic Polymorphisms in Patients with Endometriosis in the Korean Population (한국인 자궁내막증 환자의 유전자 다형성 양상)

  • Lee, Gyeong-Hun;Choi, Young-Min
    • Journal of Genetic Medicine
    • /
    • v.6 no.2
    • /
    • pp.121-130
    • /
    • 2009
  • Medical Research Center, Seoul National University College of Medicine, Seoul, Korea To analyze a wide variety of polymorphisms in patients with endometriosis is important since this disease has a strong genetic component. Until now, more than 30 Korean studies have been performed in order to elucidate the possible role of specific polymorphisms in the susceptibility to endometriosis. The most meaningful polymorphisms in Korean patients with endometriosis came from studies investigating GSTM1, AhRR, ER-alpha, VEGF, AHSG, and TNF-alpha. However, following studies should be made to confirm the consistency of the data to have some implications in the prediction of endometriosis. In this review, we also present the future direction of the association studies in complex trait disease such as endometriosis.

  • PDF

Basal cell nevus syndrome (gorlin syndrome) confirmed by PTCH mutations and deletions (PTCH 유전자 검사로 확진된 기저세포 모반 증후군 1례)

  • Kim, Hee Moon;Lee, Chul Hee;Kim, Sung Koo;Sung, Tae Jung
    • Clinical and Experimental Pediatrics
    • /
    • v.50 no.8
    • /
    • pp.789-793
    • /
    • 2007
  • Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is a rare autosomal dominant disorder characterized by variable manifestations, including multiple basal cell carcinomas, odontogenic keratocysts of the jaw, skeletal anomalies including scoliosis and bifid ribs, palmar and plantar pits, calcification of the falx cerebri, and biparietal frontal bossing. We report a case of a 9-year-old boy with the clinical features of basal cell nevus syndrome, in which a PTCH gene mutation was confirmed by DNA testing.

친환경농업 - 미생물 자가배양과 그 응용

  • Mun, Su-Hwan
    • 농업기술회보
    • /
    • v.47 no.2
    • /
    • pp.16-22
    • /
    • 2010
  • 오늘날의 화제는 첨단과학화 되면서 정보산업 등에 초점이 모아진다. 예를 들면 손톱만한 크기에 신문지 크기 몇만장의 정보를 기억시킬 수 있다든지 머리카락 굵기의 광케이블에 몇백회선분의 회선이 가능하다는 등의 그야말로 상상을 초월할 만큼 첨단화되어가고 있다. 그런가 하면 한편에서는 자연의 생태계가 파괴되어 지구상의 생명체가 1년에 수만종이 멸종되어 가고 있다는 충격적인 정보가 우리를 당혹스럽게 하고 있다. 그런가하면 지구의 온난화 현상으로 오존층이 얼마안가면 구멍이 뚫어져 금방이라도 모든 생명체가 전멸될 것 같은 위기설도 과학자의 입에서 흘러나온다고 한다. 이러한 상황 하에서 한편에서 유전공학적으로 새로운 품종을 연구개발하여 도감(圖鑑)을 만든 것을 보면 코끼리만한 소도 나올 것 같다. 그러나 뭐니뭐니해도 우리의 육안으로 볼 수 없는 미생물과 효소의 위력을 생각할 때 도깨비 같은 존재 같이 생각된다. 이 지구상에 존재하는 생명체 중에서 가장 작은 생명체인 미생물이 어떤 위력을 지녔기에 철을 분해시키고 나무조각도 분해시키고 심지어는 광물질과 암석도 용해시키는 힘을 지녔다. 분해뿐만 아니라 물질의 형성에도 간여해서 생명체가 발아하고 육성되어 이 지구상을 덮고 있는 것이다. 의학적인 분야에서는 일찍이 발달히여 병을 치료하고 예방할 수 있는 항생제를 생산하여 암까지도 치료하고 있지 않는가? 농업분야에 있어서 미생물을 배양해서 응용하는 데에 낙후되어 있다. 때 늦은 감은 있으나 이제부터 미생물과 농업을 함께 묶어 연구하고 개발하는데 우리의 지혜를 모이야 할 것으로 사료된다.

  • PDF

Genetic Correlation of Carcass and Meat Production Traits with Hormones and Metabolic Components in Hawoo (가축의 혈청 호르몬 및 대사물질 농도와 도체 및 산육형질에 대한 유전상관에 관한 연구)

  • Jeon G. J.;Juong H. Y.;Cho K. H.;Kim M. J.;Kim I. C.;Kim J. B.
    • Journal of Embryo Transfer
    • /
    • v.20 no.3
    • /
    • pp.255-269
    • /
    • 2005
  • This study was aimed to investigate genetic relationships, variables, and correlations between economic traits and metabolic materials in serum components according to bleeding periods and breeding locations for the castrated and not castrated Hanwoo cattle at National Livestock Research Institute. Analysis of variance for serum hormones and metabolic materials showed significant differences by breeding locations except for testosterone and globulin. Statistical differences for serum components were detected by birth year except for cortisol, total protein, globulin and creatinine, and by castration except for total protein and BUN. All the serum components were tended to have sire effects except for testosterone resulting in some degree of additive gene actions. Breeding locations showed statistical significances for carcass weight and back fat thickness, but not in carcass rate, KPH, live weight and transportation weight loss. Effects of breeding locations and castration were significant for all weight measurement periods except for 9 month and 6 month, respectively. A significant sire effect was observed in all weight measurements. Least squared means for concentration of serum components by breeding year, season and castration were not significant. High concentration of cortisol, creatinine and triglyceride and low concentration of IGF-1 and glucose were detected in castrated cattle. Concentration of testosterone with castrated cattle was $5.2\%$ corresponding to non castrated cattle. Estimation of heritabilities of serum components using a sire model with restricted maximum likelihood were ranged 0.07 to 0.58. High heritabilities were estimated for total protein, albumin, globulin, cortisol, creatinine and BUN were 0.53, 0.54, 0.42, 0.45, 0.58 and 0.54, respectively. Low heritabilities were estimated fur calcium, testosterone and IGF-1 for 0.07, 0.15 and 0.12, respectively. Heritabilities for carcass weight, back fat thickness, meat yield index, KPH, and IMF were estimated as 0.39, 0.45, 0.30 0.13, and 0.93. Heritabilities of weights on 18, 12, 9, 6, and 24 month were estimated as 0.78, 0.76, 0.62, 0.58 and 0.58. Estimated heritabilities for average daily gain on 6${\~}$2, 12${\~}$18, and 18${\~}$24 month were 0.80, 0.75 and 0.19, respectively.

Reconstruction of Metabolic Pathway for the Chicken Genome (닭 특이 대사 경로 재확립)

  • Kim, Woon-Su;Lee, Se-Young;Park, Hye-Sun;Baik, Woon-Kee;Lee, Jun-Heon;Seo, Seong-Won
    • Korean Journal of Poultry Science
    • /
    • v.37 no.3
    • /
    • pp.275-282
    • /
    • 2010
  • Chicken is an important livestock as a valuable biomedical model as well as food for human, and there is a strong rationale for improving our understanding on metabolism and physiology of this organism. The first draft of chicken genome assembly was released in 2004, which enables elaboration on the linkage between genetic and metabolic traits of chicken. The objectives of this study were thus to reconstruct metabolic pathway of the chicken genome and to construct a chicken specific pathway genome database (PGDB). We developed a comprehensive genome database for chicken by integrating all the known annotations for chicken genes and proteins using a pipeline written in Perl. Based on the comprehensive genome annotations, metabolic pathways of the chicken genome were reconstructed using the PathoLogic algorithm in Pathway Tools software. We identified a total of 212 metabolic pathways, 2,709 enzymes, 71 transporters, 1,698 enzymatic reactions, 8 transport reactions, and 1,360 compounds in the current chicken genome build, Gallus_gallus-2.1. Comparative metabolic analysis with the human, mouse and cattle genomes revealed that core metabolic pathways are highly conserved in the chicken genome. It was indicated the quality of assembly and annotations of the chicken genome need to be improved and more researches are required for improving our understanding on function of genes and metabolic pathways of avian species. We conclude that the chicken PGDB is useful for studies on avian and chicken metabolism and provides a platform for comparative genomic and metabolic analysis of animal biology and biomedicine.

Evaluation of Baby-leaf Growth and Leaf Red Color Intensity for Amaranthus Germplasm (아마란스(Amaranthus ssp.) 유전자원의 어린잎 생육과 엽 적색도 평가)

  • Lee, Jun-Gu;Jang, Yoon-Ah;Um, Yeong-Cheol;Lee, Sang-Gyu
    • Journal of agriculture & life science
    • /
    • v.46 no.6
    • /
    • pp.59-65
    • /
    • 2012
  • This study evaluated the baby-leaf growth, leaf red color intensity, and phytochemical compounds, such as total phenols and total flavonoids using domestic Amaranthus accessions, to select promising germplasm for the use of baby-leaf vegetable. The 39 accessions, upper 15% of 262 Amaranthus germplasm collection showing high red color intensity in baby-leaf, measured as Hunter's a value, were primarily selected. The eleven accessions including IT199970, showing stable red color intensity in baby-leaf both in high-temperature and low temperature cultivation, were finally selected as promising germplasm for the use of baby-leaf vegetable Amaranthus. The leaf red color intensities when they were cultivated at low temperature period were generally higher than those at low temperature period, and all the eleven selected germplasm, including four Amaranthus sub-species and five unknown species, showed stable red color expression in baby-leaf. The total phenol and total flavonoid contents were also presented for finally selected germplasm including their baby-leaf fresh weights. These finally selected germplasm could be potentially used as baby-leaf vegetable resources, through fortifying the color balance of salad vegetable.

The Strategy for Diagnosis and Treatment of Isovaleric Acidemia (아이소발레릭산혈증의 신생아선별검사 후 진단 및 치료 전략)

  • Ko, Jung Min;Lee, Kyung-A
    • Journal of The Korean Society of Inherited Metabolic disease
    • /
    • v.16 no.2
    • /
    • pp.57-61
    • /
    • 2016
  • Isovaleric acidemia (IVA) is an autosomal recessively inherited organic acid disorder due to a defect of the enzyme isovaleryl-CoA dehydrogenase in the leucine metabolic pathway. Deficiency of this enzyme results in the accumulation of derivatives of isovaleryl-CoA. In acute illness in IVA, isovaleric acid and its derivatives accumulate and profound metabolic acidosis with ketosis, characteristic pungent body odor, hypoglycemia, and hyperammonemia can be developed. Additionally, recurrent vomiting, failure to thrive, developmental delay, epilepsy and mental retardation are chronic presenting symptoms and signs for IVA. On the result of newborn screening for inherited metabolic disorders, increased levels of isovalerylcarnitine (C5) are shown. However, C5 elevation can be accompanied with short/branched-chain acyl-CoA dehydrogenase (SBCAD) and therapy with certain antibiotics containing pivalic acid. Quantitative measurement of organic acids in urine and acylcarnitine profiles in plasma are necessary to differential diagnosis. Molecular genetic analysis of the IVD gene for IVA and ACADSB is also helpful to confirm IVA and SBCAD deficiency, respectively. Considering that IVA can be associated with significant morbidity and mortality at acute presentation of metabolic crisis, early diagnosis prior to the onset of symptoms by newborn screening enable to introduction of early treatment and prevention of acute and chronic complications.

  • PDF

Calves Derived from in Vivo Frozen-Thawed Embryos Collected from Canada Holstein Friesian Cows with High Genetic Background (캐나다산 고능력 젖소에서 생산된 동결-융해 배아 유래의 송아지 생산)

  • Lee, Won-You;Lee, Woo-Sung;Kim, Hyung-Jong;Kim, Bong-Han;Hong, So-Gun;Lee, Byeong-Chun;Jang, Goo
    • Journal of Veterinary Clinics
    • /
    • v.27 no.2
    • /
    • pp.154-158
    • /
    • 2010
  • Embryo Transfer (ET) is one of the assisted reproductive technologies and a useful tool for improving herds. The purpose of this study is to produce the calves using frozen embryos which were produced in the top one percent Holstein in Canada by ET. One hundred seventeen recipients were used for surrogate mothers and seventy cows were diagnosed to be pregnant. Fifty seven calves were born successfully and thirteen out of them failed to produce viable calves (abortion: 4, stillbirth: 9). Their gestational length, birth body weight and sex ratio for all the viable calves(n = 57) were $278.1{\pm}3.6$ days (range: from 271 to 286 days), $44.0{\pm}3.0\;kg$ (range: from 37 to 49 kg) and 57.9 vs. 42.1 % (male 33 and female 24), respectively. Microsatellite analysis confirmed that they were derived from frozen embryos. In conclusion, this study demonstrated that viable calves derived from frozen-thawed embryos from Canada were born by ET.