• Title/Summary/Keyword: Gene

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A Study of Guidelines for Genetic Counseling in Preimplantation Genetic Diagnosis (PGD) (착상전 유전진단을 위한 유전상담 현황과 지침개발을 위한 기초 연구)

  • Kim, Min-Jee;Lee, Hyoung-Song;Kang, Inn-Soo;Jeong, Seon-Yong;Kim, Hyon-J.
    • Journal of Genetic Medicine
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    • v.7 no.2
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    • pp.125-132
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    • 2010
  • Purpose: Preimplantation genetic diagnosis (PGD), also known as embryo screening, is a pre-pregnancy technique used to identify genetic defects in embryos created through in vitro fertilization. PGD is considered a means of prenatal diagnosis of genetic abnormalities. PGD is used when one or both genetic parents has a known genetic abnormality; testing is performed on an embryo to determine if it also carries the genetic abnormality. The main advantage of PGD is the avoidance of selective pregnancy termination as it imparts a high likelihood that the baby will be free of the disease under consideration. The application of PGD to genetic practices, reproductive medicine, and genetic counseling is becoming the key component of fertility practice because of the need to develop a custom PGD design for each couple. Materials and Methods: In this study, a survey on the contents of genetic counseling in PGD was carried out via direct contact or e-mail with the patients and specialists who had experienced PGD during the three months from February to April 2010. Results: A total of 91 persons including 60 patients, 49 of whom had a chromosomal disorder and 11 of whom had a single gene disorder, and 31 PGD specialists responded to the survey. Analysis of the survey results revealed that all respondents were well aware of the importance of genetic counseling in all steps of PGD including planning, operation, and follow-up. The patient group responded that the possibility of unexpected results (51.7%), genetic risk assessment and recurrence risk (46.7%), the reproduction options (46.7%), the procedure and limitation of PGD (43.3%) and the information of PGD technology (35.0%) should be included as a genetic counseling information. In detail, 51.7% of patients wanted to be counseled for the possibility of unexpected results and the recurrence risk, while 46.7% wanted to know their reproduction options (46.7%). Approximately 96.7% of specialists replied that a non-M.D. genetic counselor is necessary for effective and systematic genetic counseling in PGD because it is difficult for physicians to offer satisfying information to patients due to lack of counseling time and specific knowledge of the disorders. Conclusions: The information from the survey provides important insight into the overall present situation of genetic counseling for PGD in Korea. The survey results demonstrated that there is a general awareness that genetic counseling is essential for PGD, suggesting that appropriate genetic counseling may play a important role in the success of PGD. The establishment of genetic counseling guidelines for PGD may contribute to better planning and management strategies for PGD.

Genetic Diversity of Korean Native Chicken Populations in DAD-IS Database Using 25 Microsatellite Markers (초위성체 마커를 활용한 가축다양성정보시스템(DAD-IS) 등재 재래닭 집단의 유전적 다양성 분석)

  • Roh, Hee-Jong;Kim, Kwan-Woo;Lee, Jinwook;Jeon, Dayeon;Kim, Seung-Chang;Ko, Yeoung-Gyu;Mun, Seong-Sil;Lee, Hyun-Jung;Lee, Jun-Heon;Oh, Dong-Yep;Byeon, Jae-Hyun;Cho, Chang-Yeon
    • Korean Journal of Poultry Science
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    • v.46 no.2
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    • pp.65-75
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    • 2019
  • A number of Korean native chicken(KNC) populations were registered in FAO (Food and Agriculture Organization) DAD-IS (Domestic Animal Diversity Information Systems, http://www.fao.org/dad-is). But there is a lack of scientific basis to prove that they are unique population of Korea. For this reason, this study was conducted to prove KNC's uniqueness using 25 Microsatellite markers. A total of 548 chickens from 11 KNC populations (KNG, KNB, KNR, KNW, KNY, KNO, HIC, HYD, HBC, JJC, LTC) and 7 introduced populations (ARA: Araucana, RRC and RRD: Rhode Island Red C and D, LGF and LGK: White Leghorn F and K, COS and COH: Cornish brown and Cornish black) were used. Allele size per locus was decided using GeneMapper Software (v 5.0). A total of 195 alleles were observed and the range was 3 to 14 per locus. The MNA, $H_{\exp}$, $H_{obs}$, PIC value within population were the highest in KNY (4.60, 0.627, 0.648, 0.563 respectively) and the lowest in HYD (1.84, 0.297, 0.286, 0.236 respectively). The results of genetic uniformity analysis suggested 15 cluster (${\Delta}K=66.22$). Excluding JJC, the others were grouped in certain cluster with high genetic uniformity. JJC was not grouped in certain cluster but grouped in cluster 2 (44.3%), cluster 3 (17.7%) and cluster8 (19.1%). As a results of this study, we can secure a scientific basis about KNC's uniqueness and these results can be use to basic data for the genetic evaluation and management of KNC breeds.

Studies on Genetic Analysis by the Diallel Crosses in $F_2$ Generation of Cowpea(Vigna sinensis savi.) (동부 Diallel Cross$ F_2$세대의 유전분석에 관한 연구)

  • Kim, J.H.;Ko, M.S.;Chang, K.Y.
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.28 no.2
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    • pp.216-226
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    • 1983
  • Genetic studies on the $F_2$ generation of a set of half diallel crosses involving six cowpea varieties were conducted. by the randomized block design with three replications to determine combining ability, gene action and the relationships between parents and their $F_2$ hybrids. The 12 agronomic characters namely, days to flowering, days from flowering to maturity, days to maturity, diameter of stem, length of internode, number of branches per plant, length of pod, number of pods per plant, number of grains per pod, number of grains per plant, 100 grain weight and grain weight per plot were observed, and the $F_2$ generation of this diallel set of crosses was analysed for each character according to the method by Jinks and Hayman. The results obtained are summarized as follows: 1. Vr-Wr graphical analyses; The following seven characters, days to flowering, number of branches per plant, length of pod, number of pods per plant, number of grains per plant, 100 grain weight and grain weight per plot appeared to be partially dominant, and over dominance was found for days from flowering to maturity, days to maturity, length of internode and number of grains per pod. But diameter of stem indicated partial dominance near complete dominance. 2. Estimates of genetic variance components; In the degree of dominance,. eight characters, that is, days to flowering, days from flowering to maturity, days to maturity, length of internode, number of pods per plant, number of grains per pod, number of grains per plant and grain weight per plot were expressed larger than 1. And the characters, days from flowering to maturity, number of branches per plant and number of grains per plant as the degree of mean dominance ($H_1$/D) were found to be negative value over other characters. On the other hand, apprent asymmetry of dominance-recessive allele ($H_2$ /$4H_1$) produced comparatively estimates with lower value on days from flowering to maturity, length of internode, number of branches per plant and number of grains per pod. 3. Analyses of combining ability; Mean square value of GCA(general combining ability) appeared to be more important than those of SCA (specific combining ability) for most characters, and among them, grain weight per plot showed the highest mean square value in GCA and SCA. 4. Effect of combining ability; Variety 178 was expressed as the highest GCA effects in five characters (days to flowering days to maturity, number of pods per plant, number of grains per plant and grain weight per plot). SCA effects were differed from parents, characters and crosses, but crosses between TVu 1857 $\times$ TVu 2885 and TVu 2702 $\times$ J78 were shown to be highly with SCA effects on yield.

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Effects of Vitamin $K_1$ on the Developmental and Survival Rate of Porcine In Vitro Fertilized Embryos (Vitamin $K_1$의 첨가가 돼지 체외 수정란의 발달과 생존율에 미치는 효과)

  • Park, Hum-Dai;Zhu, Yi-Chen;Park, Yong-Soo
    • Journal of Embryo Transfer
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    • v.29 no.1
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    • pp.73-81
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    • 2014
  • The in vitro production of porcine embryos was essential to increase of blastocyst development rate and select of high quality blastocyst in early stage. There were a lot of reports about in vitro porcine embryo development, but there was no report about the selection of high quality embryos. Therefore, in this study, we investigated the effect of vitamin $K_1$ (vit $K_1$) on the development and survival rate of porcine in vitro fertilized embryos. When vit $K_1$ was treated for 24 hr at day 1 in vitro culture, blastocyst development rate in the control group ($35.5{\pm}3.2%$) was significantly lower compared to $1.0{\mu}M$, $3.0{\mu}M$, or $6.0{\mu}M$ groups ($14.5{\pm}4.3$, 0.0, or 0.0%; p<0.05). The survival rates of blastocysts at day 8 in $1.0{\mu}M$, $3.0{\mu}M$ or $6.0{\mu}M$ of vit $K_1$ treated groups ($22.2{\pm}2.9$, 0.0 or 0.0%) were significantly lower than that of the control group ($31.8{\pm}2.6%$; p<0.05). We were added at $1.0{\mu}M$, $3.0{\mu}M$ or $6.0{\mu}M$ vit $K_1$ for different durations of time at day 1 in vitro culture. The development rate and survival rate in the group of $1.0{\mu}M$ vit $K_1$ for 6 hr was $26.5{\pm}2.9%$ and $47.2{\pm}2.8%$, respectively, which were differed significantly in the group of 12 hr (p<0.05). In the group of $3.0{\mu}M$ vit $K_1$, the blastocyst development in control group was $36.4{\pm}3.1%$ but, the survival rate $41.7{\pm}3.2%$ in the group of 3.0 hr was significantly higher than that of the control group (p<0.05). In the group of $6.0{\mu}M$ vit $K_1$, the control group's the blastocyst development was $32.0{\pm}2.8%$ and the 0.5 hr supplement group's survival rates was $42.9{\pm}1.8%$ higher than other groups. We added vit $K_1$ at day 1, day 2, day 4 and day 6 of in vitro culture, on the based the results of supplemented concentration and duration. In the group of $1.0{\mu}M$ 6.0 hr addition, the blastocyst development rate of day 4 and the survival rate of day 2 were the highest in each group. In the groups of $3.0{\mu}M$ 3.0 hr addition or $6.0{\mu}M$ 0.5 hr addition, the blastocyst development ($59.5{\pm}4.1%$ and $50.0{\pm}3.6%$) and survival rates ($72.7{\pm}5.4%$ and $79.2{\pm}4.0%$) on day 4 were significantly higher than that of control and other experiment groups (p<0.05). Meanwhile, the number of cells in blastocysts that produced by vit $K_1$ supplementation was $53.4{\pm}5.8$, $49.4{\pm}3.8$ and $51.5{\pm}4.5$ respectively, which were significantly higher than that of $40.2{\pm}2.3$ in the control group (p<0.05). There was no difference of the number of apoptotic cells between control and experiment groups. In addition, gene expression of survival blastocyst, the Bax mRNA expression was similar between the control and the experiment groups. However, Bcl-xL mRNA expression's in the group of $6.0{\mu}M$ 0.5 hr on day 4 was highest among control and experiment groups (p<0.05). In this study suggested that the control of concentration, duration and time was effective on the survival and cell number of porcine blastocyst derived from in vitro. We are not know what the exact reasons of the effect of vit $K_1$ on embryo development and need to fur ther study. However, vit $K_1$ might be using the selection of high quality porcine blastocyst.

Variation of Genus Ilex in Korea and their Ornamental Values (Ilex속(屬) 수목(樹木)의 유전변이(遺傳變異)의 분석(分析)과 조경학적(造景學的) 이용가치(利用價値)의 조사(調査) 연구(硏究))

  • Yim, Kyong Bin
    • Journal of Korean Society of Forest Science
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    • v.42 no.1
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    • pp.1-38
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    • 1979
  • The woody species of Genus Ilex which are endemic to Korea are distributed on limited area due to solely temperature factor. There is some differences according to species, however in general, the evergreen Ilex are found along southern coastal area of Korean Peninsula and near islands where the cold index does not exceed $-5^{\circ}C$. But Ilex macropoda and the variety, only deciduous ones, are grown in temperate zone of the peninsula and some islands. The list of Ilex species of Korea are as follows. Ilex cornuta Lindley et Pax., I. crenata Thunb. var. microphylla Max., I. crenata Thunb., I. rotunda Thunb., I. macropoda Miq., I. macropoda Miq. var. pseudo-macropoda Loensner, I. integra Thunb. The author surveyed the populations of Ilex species as many as possible and data of some characters such as leaf shape, spine, fruit shape, stomata density, sex ratio in natural communities, etc. are collected. Almost all the Ilex species in Korea show sporadic distribution. This means quite small sized populations isolate distantly each other eliminating the change of gene exchange in between. Particularly Ilex conuta and I. crenata show the morphological differentiation among populations as well as significant individual variation within a population. These were true with such characteristics, leaf shape, leaf dimension, leaf margin, fruit shape, spine, and stomata density. The founded are that the fruit length and the stomata density counted on the beneath surface of leaves of Ilex cornuta increased with the decrease of latitude. These are naturally closely related with the cold index values. The table shown below indicates the correlation between mean stomata density per $0.3642mm^2$ and cold index values. These relation however were not observed on Ilex crenata. The most dominated natured in relation to individual variation were outline of leaf, the number of marginal spine, the shape of leaf cross section and the degree of luster of the upper leaf surface. As shown in photos 5~7, these variations are agreed at a glance. There are reports that the development of marginal spines in some Ilex species is associated with the juvenility and topophysis. In present study, these two factors were neglected because of the intended sampling procedure. Of Ilex rotunda, population difference with the characteristics of leaf length is recognized but not for leaf width, petiole length, and fruit size. However, individual variations within a population were significantly large. In case of Ilex integra, only individual differences within population were calculated statistically for such characteristics as leaf length, leaf width, and petiole length. As to natural population, the sex ratio was 1:2 (female to male) for Ilex cornuta, and 1:1 for Ilex crenata. The tendency of more male than female in I. cornuta was agreed to other observations. Preparing the tip cutting of length 10cm, and treating with IBA, then attaching earth ball to the cut end, very successful rooting percentages were obtained. Asexual propagation has the advantages of maintaining the heterozygosity of existing varieties and overcoming the difficulties of delayed seed germination frequently encountered with Ilex species. Considering a great deal of variation in morphological traits, a good possibility of selection breeding for decorative and ornamental purposes exists. At present, these evergreen Ilex are ignored by local people as nuisance weedy shrubs. So the proper protection measures should promptly be taken.

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