• Title/Summary/Keyword: Genetic diseases

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Comparison of Cholesterol Contents and Fatty Acid Composition in M. longissimus of Hanwoo, Angus and Wagyu Crossbred Steers (한우, 앵거스 및 화우 교잡종의 등심내 콜레스테롤 함량 및 지방산 조성 비교)

  • Choi, Chang-Bon;Shin, Hyeon-U;Lee, Sang-Oug;Kim, Sung-Il;Jung, Keun-Ki;Choi, Chang-Won;Baek, Kyung-Hoon;Lunt, David K.;Smith, Stephen B.
    • Journal of Animal Science and Technology
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    • v.50 no.4
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    • pp.519-526
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    • 2008
  • Although beef provides high quality proteins as well as vitamins and minerals, its concentrations of saturated fatty acids and cholesterol give negative impression to some consumers on the other hand. Excess fat, especially cholesterol contents in beef is related with metabolic diseases such as atherosclerosis and hypertension. Unfortunately, the data for the relationship of marbling degree and cholesterol contents in Hanwoo beef is very limited. The objectives of the current study were to provide basic data about cholesterol contents in Hanwoo beef and to compare those among beef cattle breeds using 61 Hanwoo and 15 each of Angus and Wagyu crossbred steers. Samples were collected from M. longissimus area and cholesterol concentrations and fatty acid compositions were analyzed using gas chromatography. Cholesterol concentrations in Hanwoo beef ranged from 32.36 mg/100g to 75.42mg/100g depending on individuals. In Angus, cholesterol contents in lowest marbling degree of “Practically devoid” was 56.84mg/100g, whereas it was 72.85mg/100g in the highest marbling degree of “Abundant” showing increase in cholesterol concentrations as the marbling degree increases. For Wagyu crossbred steers, it was 69.23mg/100g and 78.93 mg/100g for marbling degree of “Practically devoid” and “Abundant”, respectively, showing similar cholesterol concentrations to Angus steers but still much higher than Hanwoo steers. The ratio of unsaturated fatty acids:saturated fatty acids for Hanwoo, Angus and Wagyu Crossbred were 1,48, 1.08 and 1.17, respectively. And the ratio of monounsaturated fatty acids : saturated fatty acids were 1.41, 1.03, and 1.10, respectively showing significantly higher ratios in Hanwoo steers. In conclusion, cholesterol contents and saturated fatty acids in M. longissimus of Hanwoo steers were significantly lower while unsaturated fatty acids were higher comparing to those in Angus or Wagyu Crossbred steers. Further studies, however, considering genetic backgrounds, feeding conditions, slaughtering age, number of samples and location of sampling of experimental animals are necessary.

Construction of Gene Network System Associated with Economic Traits in Cattle (소의 경제형질 관련 유전자 네트워크 분석 시스템 구축)

  • Lim, Dajeong;Kim, Hyung-Yong;Cho, Yong-Min;Chai, Han-Ha;Park, Jong-Eun;Lim, Kyu-Sang;Lee, Seung-Su
    • Journal of Life Science
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    • v.26 no.8
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    • pp.904-910
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    • 2016
  • Complex traits are determined by the combined effects of many loci and are affected by gene networks or biological pathways. Systems biology approaches have an important role in the identification of candidate genes related to complex diseases or traits at the system level. The gene network analysis has been performed by diverse types of methods such as gene co-expression, gene regulatory relationships, protein-protein interaction (PPI) and genetic networks. Moreover, the network-based methods were described for predicting gene functions such as graph theoretic method, neighborhood counting based methods and weighted function. However, there are a limited number of researches in livestock. The present study systemically analyzed genes associated with 102 types of economic traits based on the Animal Trait Ontology (ATO) and identified their relationships based on the gene co-expression network and PPI network in cattle. Then, we constructed the two types of gene network databases and network visualization system (http://www.nabc.go.kr/cg). We used a gene co-expression network analysis from the bovine expression value of bovine genes to generate gene co-expression network. PPI network was constructed from Human protein reference database based on the orthologous relationship between human and cattle. Finally, candidate genes and their network relationships were identified in each trait. They were typologically centered with large degree and betweenness centrality (BC) value in the gene network. The ontle program was applied to generate the database and to visualize the gene network results. This information would serve as valuable resources for exploiting genomic functions that influence economically and agriculturally important traits in cattle.

A Study on the Protection of Personal Information in the Medical Service Act (의료법의 개인정보보호에 관한 연구)

  • Sung, Soo-Yeon
    • The Korean Society of Law and Medicine
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    • v.21 no.2
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    • pp.75-103
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    • 2020
  • There is a growing voice that medical information should be shared because it can prepare for genetic diseases or cancer by analyzing and utilizing medical information in big data or artificial intelligence to develop medical technology and improve patient care. The utilization and protection of patients' personal information are the same as two sides of the same coin. Medical institutions or medical personnel should take extra caution in handling personal information with high environmental distinct characteristics and sensitivity, which is different from general information processors. In general, the patient's personal information is processed by medical personnel or medical institutions through the processes of collection, creation, and destruction. Still, the use of terms related to personal information in the Medical Service Act is jumbled, or the scope of application is unclear, so it relies on the interpretation of precedents. For the medical personnel or the founder of the medical institution, in the case of infringement of Article 24(4), it cannot be regarded that it means only medical treatment information among personal information, whether or not it should be treated the same as the personal information under Article 23, because the sensitive information of patients is recorded, saved, and stored in electronic medical records. Although the prohibition of information leakage under Article 19 of the Medical Service Act has a revision; 'secret' that was learned in business was revised to 'information', but only the name was changed, and the benefit and protection of the law is the same as the 'secret' of the criminal law, such that the patient's right to self-determination of personal information is not protected. The Privacy Law and the Local Health Act consider the benefit and protection of the law in 'information learned in business' as the right to self-determination of personal information and stipulate the same penalties for personal information infringement such as leakage, forgery, alteration, and damage. The privacy regulations of the Medical Service Act require that the terms be adjusted uniformly because the jumbled use of terms can confuse information subjects, information processors, and shows certain limitations on the protection of personal information because the contents or scope of the regulations of the Medical Service Law for special corporations and the Privacy Law may cause confusion in interpretation. The patient's personal information is sensitive and must be safely protected in its use and processing. Personal information must be processed in accordance with the protection principle of Privacy Law, and the rights such as privacy, freedom, personal rights, and the right to self-determination of personal information of patients or guardians, the information subject, must be guaranteed.

Autopoietic Machinery and the Emergence of Third-Order Cybernetics (자기생산 기계 시스템과 3차 사이버네틱스의 등장)

  • Lee, Sungbum
    • Cross-Cultural Studies
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    • v.52
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    • pp.277-312
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    • 2018
  • First-order cybernetics during the 1940s and 1950s aimed for control of an observed system, while second-order cybernetics during the mid-1970s aspired to address the mechanism of an observing system. The former pursues an objective, subjectless, approach to a system, whereas the latter prefers a subjective, personal approach to a system. Second-order observation must be noted since a human observer is a living system that has its unique cognition. Maturana and Varela place the autopoiesis of this biological system at the core of second-order cybernetics. They contend that an autpoietic system maintains, transforms and produces itself. Technoscientific recreation of biological autopoiesis opens up to a new step in cybernetics: what I describe as third-order cybernetics. The formation of technoscientific autopoiesis overlaps with the Fourth Industrial Revolution or what Erik Brynjolfsson and Andrew McAfee call the Second Machine Age. It leads to a radical shift from human centrism to posthumanity whereby humanity is mechanized, and machinery is biologized. In two versions of the novel Demon Seed, American novelist Dean Koontz explores the significance of technoscientific autopoiesis. The 1973 version dramatizes two kinds of observers: the technophobic human observer and the technology-friendly machine observer Proteus. As the story concludes, the former dominates the latter with the result that an anthropocentric position still works. The 1997 version, however, reveals the victory of the techno-friendly narrator Proteus over the anthropocentric narrator. Losing his narrational position, the technophobic human narrator of the story disappears. In the 1997 version, Proteus becomes the subject of desire in luring divorcee Susan. He longs to flaunt his male egomaniac. His achievement of male identity is a sign of technological autopoiesis characteristic of third-order cybernetics. To display self-producing capabilities integral to the autonomy of machinery, Koontz's novel demonstrates that Proteus manipulates Susan's egg to produce a human-machine mixture. Koontz's demon child, problematically enough, implicates the future of eugenics in an era of technological autopoiesis. Proteus creates a crossbreed of humanity and machinery to engineer a perfect body and mind. He fixes incurable or intractable diseases through genetic modifications. Proteus transfers a vast amount of digital information to his offspring's brain, which enables the demon child to achieve state-of-the-art intelligence. His technological editing of human genes and consciousness leads to digital standardization through unanimous spread of the best qualities of humanity. He gathers distinguished human genes and mental status much like collecting luxury brands. Accordingly, Proteus's child-making project ultimately moves towards technologically-controlled eugenics. Pointedly, it disturbs the classical ideal of liberal humanism celebrating a human being as the master of his or her nature.

Breeding and characteristics of Uram, a New Variety of Pleurotus nebrodensis (백령느타리 신품종 '우람'의 육성 및 특성)

  • Ha, Tai-Moon;Jung, Gu-Hyun;Kim, Jeoung-Suk;Choi, Jong-In;Kim, Jeong-Han;Lee, Yong-Seon;Jeong, Yung-Kyeoung
    • Journal of Mushroom
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    • v.19 no.2
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    • pp.88-95
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    • 2021
  • This study was carried out to breed new variety of Pleurotus nebrodensis. We have collected and tested characteristics of genetic resources from domestic and abroad since 2015. The varieties of P. nebrodensis from China are grown by farmers, but those have been unstable fruiting and are weak against bacterial diseases. To solve this problem, we bred the unique domestic variety 'Uram' of P. nebrodensis and the results of the characteristic test for the new 'Uram' are as follows. The proper temperature for the mycelial growth was 26~29℃ and fruit body growth temperature was 15~18℃. It was similar to the control variety KME65035 of P. nebrodensis in the pileus form of a flat and white color. The number of days required for initial fruting was 5 days for bottle cultivation and 6 days for bag cultivation which was 2-4 days shorter than that of the control variety. The pileus diameter was 32.6-37.0 mm which was smaller but the fruit body length was 130.4 mm, which was longer than those of the control variety. The effective number of fruit bodies was 1.8 in bottle cultivation and 2.9 in bag cultivation, which was more than those of the control variety. The yield rate was 93.3-100%, which was more stable than those of the control variety. In bottle cultivation and bag cultivation, the yield was 173.1 g/bottle (1100 cc) and 283.4 g/bag (1.2 kg), respectively, which was 25-44% higher than those of the control variety 138.0 g/bottle (1100 cc) and 197.4 g bag (1.2 kg). When incubating the parent and control varieties of 'Uram', the replacement line was clear and as a result of mycelial DNA RAPD-PCR reaction, the band pattern was different from that of the parent and control varieties, confirming the hybrid species.

A Study of the Distribution of Listeria spp. in Fresh Agricultural Products Distributed in the Busan Area, the Republic of Korea (부산지역에서 유통되는 신선농산물 중 리스테리아균 분포에 관한 연구)

  • Youn-ju Ok;Young-hee Kwon;Hye-sun Hwang;Ye-jee Byun;Ji-young Park;Byung-jun Kim
    • Journal of Food Hygiene and Safety
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    • v.39 no.1
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    • pp.9-15
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    • 2024
  • This study was performed to survey the distribution of Listeria spp. in fresh agricultural products in the Busan area, the Republic of Korea, from January to November 2022. We investigated the pathogenicity and epidemiological relationships by tracing isolated strains using polymerase chain reaction and pulsed-field gel electro-phoresis (PFGE) methods. Forty cases of Listeria spp. were detected in the 210 samples of fresh agricultural products analyzed. Four species, Listeria rocourtiae, L. innocua, L. grayi, and L. monocytogenes were detected only in green vegetables (lettuce, perilla leaps) and the others (L. innocua, L. monocytogenes, and L. grayi) were detected in enoki and oyster mushrooms. L. innocua was detected in 22 samples and L. grayi in six samples. L. monocytogenes, which causes foodborne diseases, was only detected in enoki mushrooms and the strains that were isolated had genes responsible for the pathogenicity of listeriosis (iap, prfA, inlA, inlC, inlJ, and hly). To investigate the genetic similarity and contamination route of L. monocytogenes, serotyping and PFGE were conducted for 12 strains isolated from fresh agricultural (10 strains) and poultry (2 strains) products distributed at a market in the Busan area. Two serotypes (1/2a, 1/2b) were detected in strains isolated from the agricultural and poultry products, but serotype 1/2b was only detected in strains isolated from agricultural products. PFGE analysis showed index of similarity values of 45.7 to 100% and the same patterns were represented in isolates from some enoki mushrooms. These isolates had the same serotypes and showed significant epidemiological relationships.

Changes in Phytosterol Content in Cobs and Kernels During Physiological Maturity of Corn Ears (옥수수 이삭 등숙 기간 동안 속대와 종실의 Phytosterol 함량 변화)

  • Jun Young Ha;Young Sam Go;Jae Han Son;Mi-Hyang Kim;Kyeong Min Kang;Tae Wook Jung;Beom Young Son;Hwan Hee Bae
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.68 no.4
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    • pp.392-401
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    • 2023
  • Corn (Zea mays L.) is one of the world's most important crops, along with wheat and rice, with a global corn production expected to reach 1,154.5 million tons in 2023. Considering this grain production, The generation of corn cob is expected to reach approximately 207.8 million tons in 2023. However, as an agricultural by-product, corn cobs are often considered waste and remain underutilized. Phytosterols, which are abundant in vegetable oils such as corn oil, provide a number of health benefits, including liver health, cholesterol reduction, and protection against chronic diseases such as diabetes. In this study, we investigated the potential of Kwangpyeongok ears, which are commonly used as grain and silage corn in Korea. We also examined the variation in phytosterol content with the maturity of corn ears to identify the optimal time for utilization. At the beginning of physiological maturity, corn cobs had 113.3 mg/100g DW of total phytosterols, which was highest phytosterol abundance during the growth stage. Corn kernels also had the highest phytosterol content at the beginning of physiological maturity. While previous studies on corn bioactive compounds have mainly focused on the kernels, the results of this study highlight that cobs are an excellent source of these compounds. Furthermore, phytosterol levels were influenced by genetic factors and developmental stages, suggesting the to increase the use of cobs as a source of bioactive compounds.

Analysis of p53 and Retinoblasoma(Rb) Gene Polymorphisms in Relation to Lung Cancer in Koreans (한국인 폐암 환자에 대한 p53 및 Rb유전자의 다형성 분석)

  • Lee, Kyung-Sang;Sohn, Jang-Won;Yang, Suck-Chul;Yoon, Ho-Joo;Shin, Dong-Ho;Park, Sung-Soo;Lee, Jung-Hee;Lee, Chun-Geun;Cho, Youl-Hee
    • Tuberculosis and Respiratory Diseases
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    • v.44 no.3
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    • pp.534-546
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    • 1997
  • Background : The p53 and retinoblastoma(Rb) tumor suppressor genes are associated with the pathogenesis of several types of human cancer. Substantial proportion of the primary lung cancers or cell lines have been reported to have the p53 and/or the Rb gene mutations. But, so far there is no report on the analysis of the Rb gene polymorphism as one of the genetic susceptibility marker. This study was undertaken to establish the gene frequencies of the polymorphic genotypes of the p53 and Rb genes in Koreans to evaluate the possible involvement of these genotypes as a risk factor of lung cancer. Methods : In this study 145 controls without previous and present tumor history and 128 lung cancer patients were subjected to analysis. The two intragenic polymorphisms of the p53 gene(exon 4/ AccII, intron 6/MspI) and one intron 17/XbaI polymorphism of the Rb gene were analysed by the method of polymersae chain reaction- restriction fragment length polymorphisms(PCR-RFLPs). The genotype of the intron 3/16 bp repeat polymorphism of p53 was determined by PCR and direct gel electrophoresis. Results : There were no significant differences in the genotype distributions of the p53 gene between lung cancer patients and controls. But heterozygotes(Arg/Pro) of the exon 4/AccII polymorphisms were slightly over-represented than controls, especially in the Kreyberg type I cancer, which was known to be associated with smoking. The intron 3/16 bp duplication and the intron 6/MspI polymorphisms were in complete linkage disequilibrium. About 95% of the individuals were homozygotes of the common alleles both in the 16 duplication and MspI polymorphisms, and no differences were deteced in the genotype distributions between lung cancer patients and controls. Overall genotype distributions of the Rb gene polymorphisms between lung cancer patients and controls were not significantly different However, the genotype distributions in the Kreyberg type I cancer were significantly different from those of controls(p = 0.0297) or adenocarcinomas(p = 0.0008). It was noticeable that 73.4% of the patients with adenocarcinomas were heterozygotes(r1/r2) whereas 39.2% of the Kreyberg type I cancer were heterozygous at this polymorphisms. In the lung cancer patients, significant differences were also noted between the high dose smokers and low dose smokers including non-smokers(p = 0.0258). The relative risk to Kreyberg type I cancer was significantly reduced in the individuals with the genotype of r1/r2(odds ratio = 0.46, 95% C.I. = 0.25-0.86, p = 0.0124). The combined genotype distribution of the exon 4 AccII of the p53 and the intron 17 Rb gene polymorphisms in Kreyberg type I cancers were significantly different from dose of controls or adenocarcinomas. The highest odds ratio were observed in the individuals with the genotypes of Arg/Pro and r2/r2(odds ratio = 1.97,95% C.I. = 0.84-4.59) and lowest one was in the patients with Arg/Arg, r1/r2 genotype(odds ratio = 0.54, 95% C.I. = 0.25-1.14). Conclusion : The p53 and the Rb gene polymorphisms modulate the risk of smoking induced lung cancer development in Koeans. However, the exact mechanism of risk modulation by these polymorphism remains to be determined. For more discrete clarification of associations between specific genotypes and lung cancer risk, the evaluations of these polymorphisms in other ethnics and more number of patients will be needed.

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Clinical Characteristics of Arthrogryposis, Renal Tubular Dysfunction, Cholestasis(ARC) Syndrome in Korea (ARC(Arthrogryposis, Renal Tubular Dysfunction, Cholestasis) 증후군의 발병양상에 관한 연구)

  • Lee Soon Min;Kim Ji Hong;Lee Jae Seung;Han Suk Joo
    • Childhood Kidney Diseases
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    • v.9 no.2
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    • pp.222-230
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    • 2005
  • Purpose : ARC syndrome refers to an association of arthrogryposis, renal tubular dysfunction, and cholestasis. The VPS33B gene was recently identified as the causative gene. So far, 41 cases of ARC syndrome have been reported worldwide, and it has rarely been reported in Korea. This study was conducted to report the clinical findings of seven ARC syndrome cases in Korean children, focusing especially on renal tubular dysfunction. Methods : The hospital records of 7 cases diagnosed as ARC syndrome at Severance Hospital between Mar. 1995 and Aug. 2005 were reviewed and analyzed. Results : Of the 7 cases, 4 were boys and 3 were girls. Six patients(85$\%$) were born with normal birth weight at term, and one was born at preterm. All cases presented with cholestasis and severe jaundice. According to the type of arthrogryposis described by Brown et al, type 3 and 4 were found in 2 patients and type,6, 7, and the undistributed type in one patient respectively. Other associated clinical findings were as follows : failure to thrive in 6(85$\%$), lax skin in 5(71$\%$), and gray platelet syndrome in 4(57$\%$). Urine analysis revealed 6 cases(85$\%$) with proteinuria, 3(43$\%$) with hematuria, 5(71$\%$) with glycosuria, 2(29$\%$) with phosphaturia and 2(29$\%$) with calciuria. Serum electrolytes showed 4 cases(57$\%$) with hyponatremia, 3(43$\%$) with hypokalemia, and 1(14$\%$) with creatinine elevation. Renal tubular dysfunctions were diagnosed as renal tubular acidosis in 6 cases(85$\%$), nephrogenic diabetes insipidus in 2(29$\%$), and Fanconi syndrome in 2(29$\%$). During the follow-up period, 2(29$\%$) had no treatment, 5(85$\%$) had continuous supplementation to correct the electrolyte imbalance and acidosis, and 1(14$\%$) had dialysis. Only one patient had a family history of ARE syndrome in a sibling. Four cases(57$\%$) were diagnosed at the mean age of 8.2 months, and one case was lost during follow-up. Ages of the survived 2 cases were 13 and 25 months, respectively. Conclusion : The rare disease of ARC syndrome Is associated with severe renal dysfunction. However, this study revealed that the renal manifestation of ARC syndrome in Korean children is relatively mild and survival rate is higher than that of previous studies. Contrary to previous reports, this study showed that familial cases are rare and sporadic occurence is possible in Korea. Thus, the diagnosis of this syndrome requires a careful evaluation of the venal function in cases of congenital arthrogryposis, and a mandatory genetic counseling of affected family for prevention of familial occurance. (J Korean Soc Pediatr Nephrol 2005;9:222-230)

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Angiotensin Converting Enzyme Gene Polymorphism in Alport Syndrome (알포트증후군 환자에서 안지오텐신전환효소 유전자 다형성의 의의)

  • Kim Ji-Hong;Lee Jae-Seung;Kim Pyung-Kil
    • Childhood Kidney Diseases
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    • v.8 no.1
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    • pp.18-25
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    • 2004
  • Purpose : Alport syndrome is clinically characterized by hereditary progressive nephritis causing ESRD with irregular thickening of the GBM and sensory neural hearing loss. The mutations of type IV collagen gene(COL4A5) located on the long arm of X chromosome is considered responsible for most of the structural abnormalities in the GBM of Alport patients. Since no definite clinical prognostic predictor has been reported in the disease yet, we designed this study to evaluate the significance of genetic polymorphism of the angiotensin converting enzyme in children with Alport syndrome as a prognostic factor for disease progression. Methods : ACE I/D genotype were examined by PCR amplification of the genomic DNA in 12 patients with Alport syndrome and 12 of their family members. Alport patients were divided into two groups; the conservative group, those who had preserved renal function for more than 10 years of age, the early CRF group, those who had progressed to CRF within 10 years of age. Results : The mean age of onset was $3.45{\pm}2.4$ years in the conservative group, $4.4{\pm}1.2$ years in the early CRF group. Sex ratios were 5:3 and 2:1 in each group. Among 12 cases of patients, 4 cases were in early CRF group and their mean duration of onset to CRF was 4.5 yews(8.9 years of age). Eight patients(67%) were in the conservative group and they had normal renal function for more than 10 years of age(mean duration of renal preservation was 10.6 years). The incidence of II type ACE gene were in 25.0%(3 cases), ID type in 41.7%(5 cases), DD type in 33.3%(4 cases). There was no significant difference between Alport patient and normal control(II type 44.3%, ID type 40.9%, DD type 14.8%). The incidence of DD type of early CRF group were higher than that of the conservative group(75% vs 12.5%)(p<0.05). There was no difference in ACE gene polymorphism between normal Alport family members and control group. Conclusion : Even though there was no significant difference of ACE polymorphism between Alport patients and the normal control group, the incidence of DD type is significantly increased in early CRF group which means DD type of ACE polymorphism has a possibility of being a predictor for early progression to CRF in Alport patients.

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