• Title/Summary/Keyword: Genetic Disease

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Molecular epidemiological study of measles virus throughout an imported epidemic outbreak in Gyeonggi-do in 2014 (2014년 경기지역에서 발생한 해외유입 홍역 바이러스의 분자역학적 특성 분석)

  • Yun, Hee-Jeong;Park, Po-Hyun;Hwang, Sun-Il;Huh, Jeong-Weon;Nam, Soo-Jung;Yong, Kum-Chan;Yoon, Mi-Hye
    • Korean Journal of Microbiology
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    • v.53 no.1
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    • pp.1-8
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    • 2017
  • Measles virus is a highly contagious, exanthematic virus, preventable by the use of an effective live-attenuated vaccine. However, measles virus remains endemic in many area of the world causing nearly 200,000 deaths per year and still a major cause of child mortality, mostly in developing countries. In March 2014, Republic of Korea was certified as a 'national measles elimination' by the WHO as a result of a high-quality case-based surveillance system and population immunity, which was achieved by a high vaccination rate (>95.0% since 1996). But, since the beginning of 2014, the Gyeonggi province has experienced a resurgence of measles cases. In this study, we investigated the characteristics of measles viruses isolated from confirmed measles in Gyeonggi province during January 1, 2014 ~ July 31, 2014, 60 isolates were obtained from 72 confirmed measles specimens. Genotypic distributions and genetic diversities of isolated measles virus were analyzed by sequencing of nucleoprotein (N) gene. 58 (96.7%) imported cases were identified. The predominant genotype was B3, which reflects the circulating measles virus in adjacent countries. The sequences of nucleoprotein (N) gene of isolated MeV were showed that the strains characterized showed the highest degree of identity (99%) with the Philippine related strains in 2013-2014. Therefore, infected traveler returning from the Philippines transmitted secondary infection in Korea.

Prevalence Rate and Etiologic Risk Factors of Atopic Dermatitis in the Preschool Children in Changwon (창원시 학동 전기 소아들의 아토피 피부염 유병률과 그 원인에 관한 연구)

  • Lee, Jong-Keun;Lee, Ho-Sung;Ha, Jin-Sil;Park, Dong-Jin;Paik, Do-Hyun;Ha, Kwon-Chul
    • Journal of Environmental Health Sciences
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    • v.35 no.3
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    • pp.169-177
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    • 2009
  • In the past decade there has been increasing concern about the atopic dermatitis (AD) associated with environmental diseases. AD has been increased in the last decade and known as one of the multifactoral diseases, which has the genetic background and environmental factors at the same time. The purposes of this study were to investigate the prevalence rate and etiologic risk factors of atopic dermatitis in preschool children in Changwon, which is a one of the Korean cities and has a large industrial complex. We reviewed and analyzed the statistical data, obtained from Korea National Health Insurance Corporation, related to prevalence rate by age and administrative district. A cross-sectional questionnaire survey, based on ISAAC (International Study of Allergy and Asthma in Childhood), was conducted on random samples of preschool children (5 to 8 years old) of large sized kindergartens in Changwon. The lifetime and last one years prevalence of AD in preschool children in Changwon was increased from 1998 to 2008. The prevalence rate of AD in the preschool children in Changwon city was 9.6%. The prevalence rate in boys was 9.7% and that in girls was 9.4%. The one year prevalence of AD was ranked as middle among other provincial cities in Korea in 2008. This study showed that the prevalence rate of the atopic disease in Changwon was 9% in 2008, which was increased especially compare to 2000. More active governmental approaches for control and prevention of atopic dermatitis for children are recommended. Further studies are needed for more accurate estimation of the prevalence of AD in Korea including different regional and age population.

Genome-Wide Association Analyses on Blood Pressure Using Three Different Phenotype Definitions

  • Park, Ji-Wan;Uhmm, Saan-Yong;Shin, Chol;Cho, Nam-H.;Cho, Yoon-Shin;Lee, Jong-Young
    • Genomics & Informatics
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    • v.8 no.3
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    • pp.108-115
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    • 2010
  • Hypertension is the most prevalent disease worldwide and is itself a risk factor for cerebral, cardiac, and renal diseases. The inconsistency of candidate genes suggested by previous genomewide association studies (GWASs) may be due to not only differences in study design and genetic or environmental background but also the difference in the power of analysis between continuous traits and discrete traits. We analyzed 352,228 single nucleotide polymorphisms (SNPs) in 8842 unrelated Koreans obtained from Ansan and Ansung cohorts. We performed a series of GWA analyses using three different phenotype models; young hypertensive cases (278 subjects) versus elderly normotensive controls (680 subjects); the upper 25% (2211 hypertensive cases) versus the lower 25% of the SBP distribution (2211 hypotensive controls); and finally SBP and DBP as continuous traits (8842 subjects). The numbers of young hypertensive cases and elderly normotensive controls were not large enough to achieve genomewide significance. The model comparing the upper 25% subjects to the lower 25% of subjects showed a power that was approximate to that of QTL analysis. Two neighboring SNPs of the ATP2B1 gene, rs17249754 (SBP, p=$2.53^{-10}$; DBP, p=$1.28{\times}10^{-8}$) and rs7136259 (SBP, p=$1.30{\times}10^{-9}$; DBP, p=$6.41{\times}10^{-8}$), were associated with both SBP and DBP. Interestingly, a SNP of the RPL6 gene, rs11066280, revealed a significant genomewide association with SBP in men only (p=$3.85{\times}10^{-8}$), and four SNPs located near the MAN2A1 gene showed a strong association with DBP only in elderly men aged 60-70 years (e.g., rs6421827, p=$4.86{\times}10^{-8}$). However, we did not observe any gene variant attaining genomewide significance consistently in the three phenotype models except for the ATP2B1 gene variants. In general, the association signal with blood pressure was stronger in women than in men. Genes identified in GWASs are expected to open the way for prevention, early diagnosis, and personalized treatment of hypertension.

Artificial Insemination with Low-Dose Semen does not affect Swine Reproductive Performances

  • Chung, Ki-Hwa;Lee, Il-Joo;Sa, Soo-Jin;Kim, In-Cheul;Jung, Byeong-Yeal;Son, Jung-Ho
    • Reproductive and Developmental Biology
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    • v.37 no.4
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    • pp.263-267
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    • 2013
  • Pig producers have been shown keen interest of the number of spermatozoa in a semen dose since pig artificial insemination introduce. However, determining the minimal number of spermatozoa need per AI without detrimental effect on overall reproductive performances is not an easy question to answer. To increase the efficiency of semen utilization in pig AI, optimum number of spermatozoa per dose needed to determine. The objective of this study was to determine the reproductive performance and factors that affect on-farm application of low-dose semen insemination in sows. Data were collected from Darby Genetics AI studs from 4th of June to 7th of July, 2012 (n=401). The numbers of parturition were 84, 234 and 83 in sows inseminated with doses of $1.5{\times}10^9$, $2.0{\times}10^9$ and $2.5{\times}10^9$ spermatozoa in 100ml extender, respectively. There were no significant differences on reproductive performances such as gestation period, total born, total born alive, stillbirth and mummy in sows inseminated with different semen doses. The average number of born alive was 10.5, 11.0 and 10.4 from sows inseminated with $1.5{\times}10^9$, $2.0{\times}10^9$ and $2.5{\times}10^9$ sperms, respectively. Also, number of spermatozoa per dose did not affect litter size (p>0.10). There were no significant differences of maternal genetic line difference on gestation period, total number born, number born alive, born dead and mummy. The estimated correlation coefficients of the different semen doses with total number born, number born alive, born dead and mummy were r=-0.00, -0.01, 0.02 and 0.02, respectively. Taken together, the result of this study suggested that when semen was appropriately inseminated after induced ovulation, insemination with low-dose ($1.5{\sim}2.0{\times}10^9$) semen dose not adversely affect sow's fertility.

The Oriental and Occidental bibliographic Study of Psoriasis (乾癬에 對한 東.西醫 文獻的 硏究)

  • Kim, Nam-Kwen;Hwang, Chung-yeon;Lim, Gye-sang
    • The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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    • v.12 no.1
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    • pp.154-178
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    • 1999
  • Psoriasis is the recurrent disease of skin and till now its mechanism, pathogenesis and treatment are not clearly discovered. So, like these papers, we must investigate more safety and effective treatment of psoriasis. And I obtained the following condusions from the Oriental and Occidental bibliographic investigation. 1. In Oriental medicine. Baikbi, Pungsun, Eunselbyong, Songpisun, Baikselpung were the other names of Psoriasis. 2. In Occidental medicine, genetic factors, aggravation and inducible factors, biochemical factors, immunologic factors, disorder of epidermal kinetics, vascular malformation of dermis were cosidered to the pathogenic factors of psoriasis. 3. In Oriental medicine, the pathogenic factors of psoriasis were divided two parts. One is exogenous pathogenic factors which including the blood-heat, blood dryness, blood stasis, deficiency of liver and kidney, inharmony of impulsive and appointed pulsation, deficiency of blood. The other is exogenous pathogenic factors which including the wind-evil, wind-wetness, wind-heat, wind-cold, wetness-heat, cold-wetness, heat-evil. 4. In Occidental medicine, external applicative medicine, internal medicine, ultraviolet therapy, ultraviolet - external applicative medicine compound therapy and etc. were used the therapy of psoriasis. 5. In Oriental medicine, clean away heat and cooling blood, aliment the blood and moisturize, activating blood and expelling blood stasis, harmonize and invigorate the liver and kidney, invigorate the kidney, aliment the blood and moisturize the skin, aliment the blood and expelling the wind, expelling the wind and wetness, clean away heat and expelling wind, expelling the wind and scatter the cold, clean away heat and expelling the wetness, heat up the meridian and scatter the cold, clean away heat and remove the toxin and etc. were used the method of internal therapy of psoriasis. 6. Until Qing dynasty, wind expelling effective prescriptions like Bangpungtongsungsan, Sopungsan. Supungsunkisan and etc. were used and recently Yanghyelgeupungtang, Hwalhyelgeupungtang, Samultanggagam and etc. were used the internal therapy of psoriasis. 7. In the external therapy of psoriasis, Yuhonggo, Pungyugo, Sekryupiyeongo were used the plaster therapy and Folium Rerillae, Camphora, Fructus, Xanthii, Herba Spirodelae compound prescription were used the cleansing therapy, Okgisan, Chiunsan, Galmyogo, Hobunsan, Muisan, Madugo, Jeyugohengin were used the rubbing skin therapy. Rangdok Radix Aconiti, Bijeonilchoalkwang were used the attaching therapy, the extract of Rhizoma Et Radix Veratri was used the spreading pouder therapy. 8. In the acupuncture therapy of psoriasis, the Jelgol, chok Samni(S36), Kansa(P5), Haegye(S41), Wijung(B40) and etc. were used the acupuncture point, and the angle of helix incision threapy that disinfect and cut the angle of helix and plaster the Semen Glycine and Squama Manitis were used.

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Molecular Characterization of Small-Spored Alternaria Species (소형의 포자를 형성하는 Alternaria 균류의 분자생물학적 특징)

  • Kim, Byung-Ryun;Park, Myung-Soo;Cho, Hye-Sun;Yu, Seung-Hun
    • Research in Plant Disease
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    • v.11 no.1
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    • pp.56-65
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    • 2005
  • To establish taxonomic system of morphologically similar species of small-spored Alternaria, phylogenetic analysis of internal transcribed spacer (ITS 1, ITS 2 and 5.8S rDNA) and mitochondrial small subunit (mt SSU) rDNA sequences and URP-PCR fingerprinting analysis from 11 species ofAlternaria were performed. Phylogenetic analysis of ITS and mt SSU rDNA sequences revealed that 10 out of 11 species of the smallspored Alternaria were phylogenetically identical with a bootstrap value of 100%. A. infectoria only was phylogenetically differentiated from the other species. The results suggest that the 10 small-spored Alternaria species are very closely related evolutionally and the markers can not be used for differentiation of the smallspored Alternaria species. URP-PCR fingerprinting analysis from eleven species of smallspored Alternaria using 10 URP primers showed that it was possible to differentiate the species, although genetic similarities were found among the species. The Alternaria sp. from common pokeweed could be distinguished from other species by URP-PCR analysis, and it was considered as a new species. A. infectoria could be easily distinguished from the other 10 species by phylogenetic analysis of ITS and mt SSU rDNA sequences and the URPPCR fingerprinting analysis.

A Review on Controlling Technology of Cholesterol Contents in Eggs and Egg Products (계란의 콜레스테롤 함량 조절 기술에 관한 고찰)

  • 이복희;유익종;강통삼
    • Korean Journal of Poultry Science
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    • v.20 no.4
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    • pp.217-231
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    • 1993
  • Due to the increased awareness on the relationship between high cholesterol intake and cardiovascular disease, the development of low cholesterol eggs and egg products are necessary at the present time. Largely, two approaches are possible to develop low cholesterol eggs. The first approach is the production of low cholesterol eggs by altering feeds of layers, by administering drugs, by genetic selection of strains and breeds, and by management of laying cycle, age and egg size. The second approach is to manufacture low cholesterol eggs technically treated with adsorbant, solvent, enzyme, edible oil and supercritical fluid. Both approaches have their own pros and cons, respectively, as far as the cholesterol removal rates, the easeness of process, and the economic reasons are concerned. The low cholesterol egg production is quite labor-intensive and has relatively low cholesterol removal rate(30∼50% ) compared to that of chemically treated eggs. On the other hand, the low cholesterol eggs treated with chemicals have a very high cholesterol removal rate (80∼90%) but some of the methods are not completely safe as food processing purposes due to the residual chemicals and the sensory quality is not as good as the low cholesterol eggs without chemical treatment. Therefore, further studies must be conducted to improve the sensory quality of low cholesterol eggs and to eliminate fear about the harmfulness using low cholesterol eggs.

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Characteristics of mulberry cultivar 'palchung' (Morus Lhou(Ser.) Koidz.) for mulberry breeding as pollen parent (오디 생산용 뽕 품종 육성을 위한 교배모본 '팔청'의 특성)

  • Sung, Gyoo Byung;Kim, Yong Soon;Kim, Kee Young;Kim, Hyun-Bok;Ji, Sang;Kang, Pil Don
    • Journal of Sericultural and Entomological Science
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    • v.52 no.2
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    • pp.147-154
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    • 2014
  • We bred a mulberry cultivar named Palcheong, through local adaptability test, which is under registration as a new cultivar for fruit production. Local adaptability test had been carried out at four places (Suwon, Kongju, Wanju, and Jinju) for seven years from 2007. This is belonging to (Morus Lhou(Ser.) Koidz.) selected among mulberry genetic resources preserved in Suwon. Its sex expression was hermaphrodite, which can be used for the production of seedling for fruit production by artificial crossing as pollen parent Palchung showed lower yielding in fruit productivity by 16% compared to control cultivar 'Chungil (Morus alba L.)' for five years. Although Palchung was higher in sugar content of mulberry fruits, it was bigger than that of 'Chungil'. It is adaptable to every where except the places where cold damage and sclerotic disease happen frequently.

A Case of Autosomal Recessive Pseudohypoaldosteronism Type 1 with a Novel Mutation in the SCNN1A Gene (SCNN1A 유전자 변이로 발생한 상염색체 열성 가성 저 알도스테론증 1형 1례)

  • Kim, Su-Yon;Lee, Joo Hoon;Cheong, Hae Il;Park, Young Seo
    • Childhood Kidney Diseases
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    • v.17 no.2
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    • pp.137-142
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    • 2013
  • Pseudohypoaldosteronism (PHA) is a condition characterized by renal salt wasting, hyperkalemia, and metabolic acidosis due to renal tubular resistance to aldosterone. Systemic PHA1 is a more severe condition caused by defective transepithelial sodium transport due to mutations in the genes encoding the ${\alpha}$ (SCNN1A), ${\beta}$ (SCNN1B), or ${\gamma}$ (SCNN1G) subunits of the epithelial sodium channel at the collecting duct, and involves the sweat glands, salivary glands, colon, and lung. Although systemic PHA1 is a rare disease, we believe that genetic studies should be performed in patients with normal renal function but with high plasma renin and aldosterone levels, without a history of potassium-sparing diuretic use or obstructive uropathy. In the present report, we describe a case of autosomal recessive PHA1 that was genetically diagnosed in a newborn after severe hyperkalemia was noted.

Rapid prenatal diagnosis of spinocerebellar ataxia type 3 by using fluorescent PCR

  • Kim, Do-Jin;Park, So-Yeon;Kim, Mi-Jin;Lee, Moon-Hee;Shim, Sung-Han;Ryu, Hyun-Mee
    • Journal of Genetic Medicine
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    • v.4 no.1
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    • pp.84-87
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    • 2007
  • Spinocerebellar Ataxia Type 3 (SCA 3) is a rare autosomal dominative disorder in which one of the neurodegenerative disorders is caused by a CAG repeat expansion on chromosome 14q32.1. The age at onset of disease is related to the size of the expanded CAG repeat. We present the prenatal diagnosis of SCA3 in a woman whose husband was known to carry an unstable CAG repeat expansion in the MJD gene. The diagnosis was made using PCR with a fluorescent probe for an expanded MJD allele. The normal ranges of (CAG)n of SCA3 are 14~38 repeats. The husband, who had a family history of SCA 3, has an expanded allele of 69 CAG repeats with a normal allele of 27 repeats. His wife had two normal alleles with 26 and 32 CAG repeats. The fetus had two normal alleles with 26 and 27 CAG repeats; consequently, the baby w as healthy. We report a case of prenatal diagnosis of SCA3 using a fluorescent PCR which is rapid and accurate.

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