• Annals of Clinical Neurophysiology
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• 제6권2호
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• pp.65-74
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• 2004

Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of inherited muscle disorders caused by the mutations of different genes encoding muscle proteins. In the past, when the molecular diagnostic techniques were not available, the subtypes of muscular dystrophies were classified by the pattern of muscle weakness and the mode of inheritance, and LGMD had been considered as a 'waste basket' of muscular dystrophy because many unrelated heterogeneous cases with 'limb-girdle' weakness were put into the category of LGMD. With the advent of molecular genetics at the end of the last century, it has been known that there are many subtypes of LGMD caused by the mutation of different genes, and now, LGMD is classified according to the results of the linkage analysis and the genes or proteins affected. Only small proportion (probably less than 10%) of LGMD is dominantly inherited, and autosomal dominant LGMD (AD-LGMD) consists of six subtypes (LGMD1A to 1F) so far. In autosomal recessive LGMD (AR-LGMD), more than 10 subtypes (LGMD2A to 2J) have been linked and most of the causative genes have been identified. Among AR-LGMDs, LGMD2A (calpain 3 deficiency), 2B (dysferlin deficiency), and sarcoglycanopathy (LGMD2C-2F) are major subtypes. The defective proteins in LGMDs are components of nuclear envelope, cytosol, sarcomere, or sarcolemma, and seem to play a different role in the pathogenesis of muscular dystrophy. It is notable that many causative genes of LGMDs are also responsible for other categories of muscular dystrophy or diseases affecting other tissue. However, by which mechanism they produce such a broad phenotypic variability is still unknown. The identification of mutation in the relevant gene is confirmative for the diagnosis, and is essential for genetic counseling and antenatal diagnosis of LGMD. Because many different genes are responsible for LGMD, differentiation of subtypes using immunohistochemistry and western blotting is the essential step toward the detection of mutation. For the effective research and medical care of the patients with muscular dystrophy in Korea, a research center with a medical facility supported by the government seems to be needed.

• 대한소아치과학회지
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• 제25권4호
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• pp.704-709
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• 1998

Amelogenesis imperfecta represents a group of hereditary conditions that manifest enamel defects without evidence of generalized or systemic disorders. These enamel disorders are apparently heterogeneous in the basic chemical structure, resulting in a diverse presentation of clinical characteristics. The reported prevalence of amelogenesis imperfecta varies from 1 in 14,000-16,000 to 1.4 in 1,000 depending on specific population studied with the autosomal dominant hypocalcification type of amelogenesis imperfecta believed to be the least prevalent. The most widely accepted current classification system for delineating the amelogenesis imperfecta types considers the mode of inheritance and clinical manifestations. Three major groups are recognized; hypoplastic, hypocalcified, and hypomaturation types. Delineating specific types of amelogenesis imperfecta can be confusing due to the phenotypical similarity of many forms and that the most recent classification lists 14 different types. A 12 year-old female patient came to our pediatric dentistry clinic complaining of the ugly shape and color of her teeth, especially the upper front area. Although the goal of the treatment was mainly focused on the improvement of patient's esthetics, longevity of the restorations was also considered in selecting the appropriate restorative system, resin jacket crown, which can satisfy the both aspects.

• Journal of Genetic Medicine
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• 제1권1호
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• pp.33-37
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• 1997

Spinal muscular atrophy (SMA) is the second most common fatal disease of childhood with autosomal dominant mode of inheritance, and in its less severe form the third most common neuromuscular disease of childhood after Duchenne muscular dystrophy. The genetic defect was found to be on the long arm of chromosome 5 (5q11.2-q13.3) where many genes and microsatellite markers were missing. One of the most important genes is the Survival Motor Neuron (SMN) gene which is homozygously missing in 90% of SMA patients. Another important gene, the Neuronal Apoptosis Inhibitory Protein (NAIP) gene was found to be defective in 67% of SMA type I patients. Studies so far suggest SMA occurs when the genes on the long arm of chromosome 5 are mutated or deleted. Recently our hospital encountered 2 SMA patients of type I and II respectively. These patients both had homozygously defective SMN genes but intact NAIP genes. We are reporting these cases with bibliographic review and discussion. Korean SMA patients presumably have defects in SMN genes similar to those found in European patients, although the significance of NAIP genes remains to be established. SMN gene defects can be easily diagnosed using PCR and restriction enzymes, and this method could be applied towards convenient prenatal diagnosis and towards screening for family members at risk.

• Journal of Genetic Medicine
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• 제14권1호
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• pp.18-22
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• 2017

Pseudohypoparathyroidism type 1b (PHP 1b) is the result of end organ resistance to parathyroid hormone (PTH) in the absence of any features of Albright's hereditary osteodystrophy. There are two subtypes of PHP 1b with different genetic mechanisms. One subtype is related to a maternally derived 3kb microdeletion involving STX 16 gene, and is inherited in an autosomal dominant mode. Familial autosomal dominant inheritance of PHP 1b is relatively rare. The other subtype is associated with more extensive loss of imprinting at the GNAS locus that affects at least one additional differential methylated (hypermethylation at neuroendocrine secretory protein and hypomethylation at antisense transcript and or extra-large stimulatory G protein region) without microdeletion of the STX 16 or AS gene. It can be sporadic due to an imprinting defect in the GNAS gene. In our case, an 8-year-old girl was referred for suspected PHP with no feature of Albright hereditary osteodystrophy. Blood test results revealed hypocalcemia and hyperphosphatemia. Elevated PTH was also checked. There was no family history of endocrine or developmental problem. Her intelligence was normal, but she had inferior sociability at that time. Based on above, we diagnosed a rare case of paternal uniparental disomy of the long arm of chromosome 20 as the cause of PHP 1b by microsatellite marker test of chromosome 20.

• Clinical and Experimental Pediatrics
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• 제46권6호
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• pp.606-609
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• 2003

저자들은 특징적인 진찰 소견과 피부 조직 생검에서 제 I형 교원질 유전자 발현의 감소를 보인 Goltz 증후군 1례를 경험하였기에 보고하는 바이다.

• 한국작물학회지
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• 제48권
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• pp.49-57
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• 2003

There is much evidence suggesting that compounds present in soybean can prevent cancer in many different organ systems. Especially, soybean is one of the most important source of dietary saponins, which have been considered as possible anticarcinogens to inhibit tumor development and major active components contributing to the cholesterol-towering effect. Also they were reported to inhibit of the infectivity of the AIDS virus (HIV) and the Epstein-Barr virus. The biological activity of saponins depend on their specific chemical structures. Various types of triterpenoid saponins are present in soy-bean seeds. Among them, group B soyasaponis were found as the primary soyasaponins present in soybean, and th e 2, 3-dihydro-2, 5-dihydroxy-6- methyl-4H-pyran-4-one(DDMP)-conjugated soyasaponin $\alpha\textrm{g}$, $\beta\textrm{g}$, and $\beta$ a were the genuine group B saponins, which have health benefits. On the other hand, group A saponins are responsible for the undesirable bitter and astringent taste in soybean. The variation of saponin composition in soybean seeds is explained by different combinations of 9 alleles of 4 gene loci that control the utilization of soyasapogenol glycosides as substrates. The mode of inheritance of saponin types is explained by a combination of co-dominant, dominant and recessive acting genes. The funtion of theses genes is variety-specific and organ specific. Therefore distribution of various saponins types was different according to seed tissues. Soyasaponin $\beta\textrm{g}$ was detected in both parts whereas $\alpha\textrm{g}$ and $\beta$ a was detected only in hypocotyls and cotyledons, respectively. Soyasaponins ${\gamma}$g and $\gamma\textrm{g}$ were minor saponin constituents in soybean. In case group A saponins were mostly detected in hypocotyls. Also, the total soyasaponin contents varied among different soy-bean varieties and concentrations in the cultivated soy-beans were 2-fold lower than in the wild soybeans. But the contents of soyasaponin were not so influenced by environmental effects. The composition and concentration of soyasaponins were different among the soy products (soybean flour, soycurd, tempeh, soymilk, etc.) depending on the processing conditions.

• 대한소아치과학회지
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• 제27권4호
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• pp.499-504
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• 2000

법랑질형성부전증은 주로 법랑기의 기능불량으로 야기된 법랑질의 형태이상을 말하며, 치아의 중배엽은 정상이기 때문에 완전한 외배엽성 이상이다. 법랑질형성부전증은 유치와 영구치 모두에서 발생할 수 있으며, 발생빈도는 1:14,000 혹은 1:16,000정도이다. 법랑질형성부전증은 다양한 임상증상을 나타낼 수 있으며, 임상적으로 형성부전증(hypoplastic), 석회화부전증(hypocalcified). 성숙부전증(hypomatruation)등으로 나눌 수 있다 대부분 법랑질 형성부전증 환자들은 심미성, 치아의 냉온에 대한 과민반응, 교합면의 마모 등의 문제를 가지고 있다. 형성부정증에서는 비교적 위의 문제가 경미하나, 석회화부전증에 있어서는 더욱 심각하다. 치료방법으로는 먼저 유전적 상담이 선행돼야하며, 전치부 심미성의 해결을 위한 composite resin veneer나 jacket crown을 이용하고, 구치부에 있어서는 S-S crown을 이용한 방법이 있을 수 있다. 본 증례는 전북대학교 치과병원에 내원한 3명의 법랑질형성부전증 환아의 임상검사 및 치료과정에 대하여 보고하는 바이다.

• 커뮤니케이션디자인학연구
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• 제65권
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• pp.70-81
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• 2018

1949-66년, 신중국 성립 후, 새로운 정권의 기반을 다지고, 국가적 이미지를 수립하기 위해 "무산계급 혁명교육" 은 새로운 시대 속 문예창작의 주요 노선이 되었다. 이 시기 중국 애니메이션은 이데올로기와 정치적 교육을 강조하면서 그 주요한 내용들이 소련의 문예사상과 창작방식에 대한 교조적 수용의 결과라는 오해를 낳게 된다. 정치적 특징을 강하게 드러내는 이 시기의 애니메이션 작품들은, 한편 창작자들의 주체적 수용과 중국 전통문화의 계승이라는 문화적 자각이 계속 작동되고 있었다는 사실을 발견할 수 있다. 이것은 이 시기 애니메이션의 소재, 서사, 캐릭터 등이 중국의 '문이재도' 문예관의 사상적 특징과 전통적 표현방식을 계승하고 있었다는 사실에서 알수 있다. 따라서 소련 '교조주의'와는 구별되는 독자적 창작 스타일을 보인다는 사실을 발견할수 있다. "혁명 영웅 캐릭터", "혁명 사상의 신화적 표현", "독특한 나레이터 서술 방식" 이라는 1949-1966년 사이의 중국 애니메이션의 특징점은 곧 '문이재도'(文以?道) 문예관이 성립된 후 전통 예술창작의 중요한 표현수단이었던 '영웅 캐릭터', '신화 이야기', '설서 예술' 의 사상적 계승과 발전이라는 측면에서 새롭게 해석될 수 있다.

• Asian-Australasian Journal of Animal Sciences
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• 제24권12호
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• pp.1651-1659
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• 2011

This study was conducted to detect quantitative trait loci (QTL) for thirteen growth and meat quality traits in pigs by combing QTL experimental populations. Two F2 reference populations that were sired by Korea native pig (KNP) and dammed by Landrace (LN) or Yorkshire (YK) were generated to construct linkage maps using 123 genetic markers (mostly microsatellites) and to perform QTL analysis on porcine chromosomes (SSCs) 1, 2, 3, 6, 7, 8, 9, 11, 13, 14, and 15. A set of line-cross models was applied to detect QTL, and a series of lack-of-fit tests between the models was used to characterize inheritance mode of QTL. A total of 23, 11 and 19 QTL were detected at 5% chromosome-wise level for the data sets of KNP${\times}$LN, KNP${\times}$YK cross and joint sets of the two cross populations, respectively. With the joint data, two Mendelian expressed QTL for live weight and cooking loss were detected on SSC3 and SSC15 at 1% chromosome-wise level, respectively. Another Mendelian expressed QTL was detected for CIE a on SSC7 at 5% genome-wise level. Our results suggest that QTL analysis by combining data from two QTL populations increase power for QTL detection, which could provide more accurate genetic information in subsequent marker-assisted selection.

• 식물조직배양학회지
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• 제27권2호
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• pp.77-82
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• 2000

벼 종자배양에서 식물체 재분화 능력이 서로 다른 품종간에 교배된 잡종집단을 대상으로 캘러스 형성과 식물체 재분화 능력에 대한 유전양식을 구명한 결과는 다음과 같다. '밀양 23호/추청벼', '삼강벼/낙동벼' 및 '밀양 23호/대립벼 1호'조합 F₂집단의 캘러스 생장량에 대한 빈도분포는 3조합 모두 정규분포에 가까운 연속적인 분포양상을 나타내었으며, 각 조합에서 추정된 광의의 유전력은 조합에 따라 83.8%에서 90.1%로 높게 나타났다. 식물체 분화율의 경우 조합에 따라 유전양상이 다르게 나타났는데, '대립벼 1호/밀양 23호' 조합은 F₂집단의 평균 식물체 분화율이 43.6%로 양친의 평균치 보다 높게 나타나면서 빈도분포 면에서 캘러스 생체중과 동일한 양상을 보여 우성으로 작용하는 다수의 유전자에 의해 지배되는 것으로 나타났으며, 식물체 재분화 능력에 대한 광의의 유전력은 83.4%로 높게 추정되었다. 그러나 '밀양 23호 /추청벼' 조합과 '삼강벼/낙동벼' 조합의 경우는 식물체 재분화 능력이 높은 것과 낮은 것이 3 : 1의 이론적 분리비에 적합한 것으로 나타나 '추청벼'와 낙동벼'의 식물체 재분화에는 하나의 우성유전자가 관여하는 것으로 조사되었다.