• Title/Summary/Keyword: Genetic Level

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A Case of Pseudodeficiency in a Potential Late Onset Pompe Disease Carrier, with Double Dual Variant, Each in cis Formation (Pseudodeficiency 및 potential late onset Pompe disease 보인자로 확인된 cis형 dual variant 돌연변이 두 개를 가진 여아 1례)

  • Seung Ho, Kim;Goo Lyeon, Kim;Young Pyo, Chang;Dong Hwan, Lee
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.22 no.2
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    • pp.58-62
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    • 2022
  • Pompe disease (PD) is an autosomal recessive genetic disorder caused by a deficiency of the lysosomal enzyme acid α-glucosidase (GAA). It is easy to hastily diagnose as patients if they have two pathogenic variants. Clinical pathologists misdiagnosed our infant and her mother as PD. Here, we report a case of pseudodeficiency in a potential late-onset Pompe disease (LOPD) carrier with a double dual variant, each in cis formation in a 3-month infant. The person who has two pathogenic variants was diagnosed as a carrier, not a patient. It was first reported in Korea. The patient had: two likely pathogenic heterozygous mutations on exon #4: c.752C>T (p.Ser251Leu), c.761C>T (p.Ser254Leu), and a heterozygous mutation on exon #12: c.1726G>A (p.Gly576Ser), also with a heterozygous mutation on exon #15: c.2065G>A (p.Glu689Lys). By presenting this case we emphasize the possibility of cis formation of genes which may cause pseudodeficiency, and potential LOPD carrier form. Hereby we suggest that thorough evaluation of GAA gene is essential among whom initially diagnosed as PD.

Changes in Feed Value, Forage Productivity, and Grazing Intensity at Native Pasture Grazed by Growing Korean Native Female Goat(Capra hircus coreanae) (육성 암컷 흑염소 방목 야초지에서 사료가치, 사초 건물 수량 및 방목 강도의 계절별 변화에 관한 연구)

  • Yun, Yeong Sik;Seong, Hye Jin;Zhang, Qi Man;Chung, Sang Uk;Lee, Ga Eul;Park, Jae Hyun;Jang, Se Young;Lee, Jin wook;Kim, Kwan woo;Moon, Sang Ho
    • Journal of The Korean Society of Grassland and Forage Science
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    • v.38 no.2
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    • pp.120-125
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    • 2018
  • The study was conducted to determine effects on forage productivity, feed value, grazing intensity and livestock productivity in growing Korean native female goat grazing in native pasture. Its with average initial body weight of $14.10{\pm}3.6kg$ and an average age of 4 months were used in this study. Dry matter content of native pasture was the highest at $33.48{\pm}2.56%$ in June, and the content was significantly increased from spring to autumn (p<0.05). Crude protein was maintained between 11% and 12% on average. Nutrient content was maintained at a certain level in native pasture, but there were differences due to the different types of wild grasses produced in each season. The productivity of forage crops increased from June, but decreased after August and showed a characteristic of grassland where productivity decreased rapidly in spring and autumn. The average grazing intensity are 39 head/ha. Black goat average daily gain was 80.2g/d. The stable weight gain in grazing is that the nutrient requirement of the black goat was met by supplementing the concentrated feed during grazing. study, can be expected that the productivity of livestock can be increased through the proper feeding of supplementary feed and maintenance of grazing intensity.

Evaluation of Late Blight Resistance and Agronomic Characteristics of Short-day Adapted Potato Germplasm (단일적응 감자 유전자원들의 역병저항성 및 주요 농업형질 평가)

  • Park, Young-Eun;Cho, Hyun-Mook;Cho, Ji-Hong;Cho, Kwang-Soo;Kim, Hyun-Jun;Landeo, Juan
    • Horticultural Science & Technology
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    • v.29 no.5
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    • pp.474-481
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    • 2011
  • Potato late blight caused by the fungus Phytophthora infestans is one of the most vital diseases damaging the potato plant. It is for this reason that breeding potato cultivars resistant to late blight is now becoming a major concern around the world. The B3C1 clones has been introduced by the Highland Agriculture Research Center, RDA. The clones which came from International Potato Center in 2005 have a durable resistance to late blight. The clones were bred under a short-day condition in Peru. However, there was still no report on the adaptability of these clones to the long-day condition in Korea. Therefore, this study was conducted to evaluate the late blight resistance and major agronomic characteristics of B3C1 clones under Korea's long-day condition. This study was also done to generate genetic resources for developing new varieties resistant to late blight. In this study it was found out that in naturally infested field with P. infestans, AUDPC (area under disease progress curve) values of all B3C1 clones were significantly lower than those of the control varieties, 'Superior', 'Atlantic', and 'Haryeong'. It was found out that B3C1 clones had a high level of resistance to late blight and that they could be used as genetic resources to breed potato varieties with late blight resistance. However, several undesirable characteristics such as extremely late maturity, excessive growth of stems and stolons, and production of tubers that cannot easily be removed from the stolons were also observed. Among the twenty B3C1 clones, two clones, LB-8 (CIP393077.159) and LB-11 (CIP393371.159), were selected for cultivating at the highland area of Korea. Two B3C1 clones were crossed with Korean breeding lines and clonal selection for the progenies is still in progress.

GROWTH OF SOUTH AND WEST COAST PACIFIC OYSTER SPATS(CRASSOSTREA GIGAS) AFTER CROSS-TRANSPLANTATION (남해산 및 서해산 참굴(Crassostrea gigas)종패의 상호 이식 후의 성장)

  • CHUNG Jong Rak;KWAK Hi-Sang
    • Korean Journal of Fisheries and Aquatic Sciences
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    • v.3 no.2
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    • pp.129-136
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    • 1970
  • As an attempt to determine if the morphological differences between the southern and western oysters are due simply to the local ecological factors or are based on their fundamental genetic nature, oyster seeds produced in 1968 at Tong-Young, Ye-Chun, and Ko-Hung on the south coast and at Kan-Wol-Do on the west coast were cross-transplanted during May of 1969 to compare their growth. The spats were placed in plastic baskets which permitted free water flow through and the baskets hung from a wooden rack located at a tidal zone of less than I hour exposure at a depth chosen to keep the baskets submerged in water at all times. Twice a month the growth of the spats were measured along with the air and water temperature and salinity. The early summer spats, which were $17-240\%$ larger, in size, than the late summer spats at the time of cross-transplantation, grew more slowly than the late summer spats when exposed to identical environmental conditions, shortening the initial gap to a $5-20\%$ level as the first year of the growth phase came to an end in December. The growth of the Kan-Wol-Do spats lagged considerably behind the southern spats at all localities tested, whereas there were no significant differences among the latter groups. This suggests that the morphological differences between southern and western Pacific oysters in Korea are a manifestation of genetic variety and that Pacific oysters cultured along the south coast are of an identical variety as they are commonly believed to be. The seasonal changes in temperature and salinity even during rainy season in both the southern and western coastal areas are well within the range suitable for successful spawning, and spat fall. However, since the results were based on twice-a-month measurements with no data covering the critical period before and after spawning, they can only serve to indicate at best the general pattern of changes in the environmental conditions of each growing area.

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Geographic Variation of Seed Characteristics and 1-year-old Seedling Growth of Zelkova serrata (느티나무 종자특성의 지리적 변이와 1년생 유묘의 생장)

  • Kim, In Sik;Lee, Joo Hwan
    • Korean Journal of Agricultural and Forest Meteorology
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    • v.15 no.4
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    • pp.234-244
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    • 2013
  • This study was conducted to determine the factors affecting to seed characteristics and seedling growth of Zelkova serrata. The seeds were collected from sixteen populations of Z. serrata and the seed characteristics (i.e., seed length, width, weight and full seed rate) were measured. We also measured the 1-year-old seedling growth of each population at nursery. All seed characteristics showed significant differences in population level. Seed length and seed width were positively correlated with latitude, longitude, altitude and distance from coast line of sampling site. Seed length and seed width also negatively correlated with annual mean temperature, mean temperature of growing season (Mar.~Oct.). The ratio of seed length/seed width showed inverse trend in case of seed length and seed width. Seed weight/1,000 grains had no correlation with geographic factors but showed negative correlation with annual mean dryness index. Seed weight/L showed negative correlation with latitude and longitude and positive correlation with mean temperature of growing season of sampling site. Full seed rate showed negative correlation with latitude, longitude and annual mean dryness index of sampling site. There were significant differences among populations, among family within population and among individuals within family in seedling growth. Height and diameter of root collar of seedling showed negative correlation with longitude and mean humidity of growing season of sampling site. Height growth of seedlings was not correlated with any seed characteristics but, diameter at root collar showed low negative correlation with seed weight/1,000 grains and seed weight/L. We discussed the implications of the results in view of tree improvement of Z. serrata.

Development of Near Isogenic Lines with Various Seed Sizes and Study on Seed Size-related Characteristics in Watermelon (다양한 종자크기를 가진 Near Isogenic 수박 계통 육성 및 종자관련 특성 분석)

  • Kim, Yong-Jae;Yang, Tae-Jin;Park, Young-Hoon;Lee, Yong-Jik;Kang, Sun-Cheol;Kim, Yong-Kwon;Cho, Jeoung-Lai
    • Korean Journal of Breeding Science
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    • v.41 no.4
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    • pp.403-411
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    • 2009
  • We inspected seed sizes of 353 genetic accessions of watermelon to diversify functional utility related to seed size and classified them into six representative groups based on their seed sizes. Each group was named as giant seed (GS), big seed (BS), medium size (NS), small size (SS), micro seed (MS) and tomato seed (TS) from the biggest. As the seed size was getting smaller, decreased seed length and seed width, increased seed number per fruit, and decreased seed weight per fruit were observed, but seed shape did not change significantly. In order to study the effect of seed size on fruit weight and seed germination, we developed three near isogenic lines (NILs) with three different seed sizes, SS, MS and TS, from crossing between two accessions 'NT' and 'TDR', and one NIL with seed size of TS from crossing between two accessions 'S55' and 'TDR'. In the study on the fruit weight of NILs with various seed sizes, NS, SS, MS, and TS NILs produced an average of 6.4, 6.3, 5.9, and 4.2 kg fruits, respectively. The bigger seed types showed the better germination rate. NS type showed the highest germination percentage, while TS showed very low germination percentage. Fermentation treatment for 48 hrs increased the germination percentage on TS type seed, but still remained at a low level. In NS, SS, and MS material, the ratio of embryo/whole seed weight was over 50%, meanwhile that of TS was only 44.4% of which low embryo percentage would be one of the reason of low germination percentage. From this study, we concluded that watermelon has very wide genetic diversity on seed size which is somehow related to fruit sizes and germination rate.

Development and Characterization of Rice Lines with Clustered Spikelets and Dense Panicles (군집소수를 가진 고착립밀도 이삭형 벼 개발 및 특성 분석)

  • Park, Hyun-Su;Baek, Man-Kee;Kim, Choon-Song;Lee, Gun-Mi;Park, Seul-Gi;Lee, Chang-Min;Suh, Jung-Pil;Cho, Young-Chan
    • Korean Journal of Breeding Science
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    • v.50 no.4
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    • pp.415-423
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    • 2018
  • Rice panicle architecture is an important factor affecting yield potential. Korean rice cultivars have a narrow genetic background for panicle architecture. To enhance the yield potential of Korean rice cultivars, we developed and characterized rice lines with new panicle architecture. Rice with improved panicle architecture has clustered spikelets and dense panicles (CD type). CD rice was derived from a cross between "Binhae Col.#1" carrying dense panicles, and "ARC10319" that has the clustered spikelets gene (Cl). CD rice lines had short and semi-erect panicles with two to five high density spikelets clustered at the tips of primary and secondary rachis branches. CD rice lines had dramatically increased numbers of spikelets; almost twice as many as those of Korean rice cultivars. The increase in spikelet number was mainly caused by the increased spikelets and branches on secondary rachises compared to those on primary rachises. The increase in spikelet number was expected to enhance the yield of CD rice by expanding sink capacity. However, the yield of selected lines; CD9, CD27, CD34, and CD39, did not reach the level of the Korean high-yielding cultivars "Boramchan" and "Hanareum2," due to the reduction in panicle number and grain weight, and poor ripening. Although no substantial yield increase was observed in CD rice, the panicle architecture of CD rice, clustered spikelets, and dense panicles could be new genetic resources as breeding material for diversifying panicle architecture and enhancing yield potential.

Screening of Resistance of Introduced Kimchi Cabbage (Brassica rapa subsp. pekinensis) Germplasm from Asian areas to Plasmodiophora brassicae Isolates Collected in Korea. (배추 아시아 도입 유전자원의 국내 재배포장에서 수집한 뿌리혹병 균주에 대한 저항성 반응)

  • Jeon, Young-Ah;Lee, Ho-Sun;Rhee, Ju-Hee;Lee, Jae-Eun;Ko, Ho-Cheol;Aseefa, Awraris Derbie;Sung, Jung-Sook;Hur, On-sook;Ro, Na-young;Lee, Sok-Young
    • Journal of the Korean Society of International Agriculture
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    • v.30 no.4
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    • pp.305-312
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    • 2018
  • Clubroot, caused by Plasmodiophora brassicae, is one of the most crucial disease in Kimchi cabbage. Screening disease resistant genetic resources is necessary to develop disease resistant cultivars and conduct related research. We have evaluated the development of clubroot to the 120 genetic resources of Kimchi cabbage introduced from World Vegetable Center and five Asian countries using isolate of Plasmodiophora brassicae collected in Haenam fields in Jeollanam-do Province, Rep. of Korea. This isolate was determined race 2 using differential varieties reported by Kim et al., 2016. IT100384 and IT305623 showed strong resistance, lower than disease index (DI) 1.0. IT100385, 100439, and 135407 showed moderate resistance (1.0

Development of Elite Lines with Improved Eating Quality Using RIL Population Derived from the Korean Weedy Rice, Wandoaengmi6 (국내 잡초벼(완도앵미6) 유래 RILs 집단의 식미 관련 특성분석 및 우량계통 선발)

  • Kim, Suk-Man;Park, Seul-Gi;Park, Hyun-Su;Baek, Man-Kee;Jeong, Jong-Min;Cho, Young-Chan;Suh, Jung-Pil;Lee, Keon-Mi;Lee, Chang-Min;Kim, Choon-Song
    • Journal of the Korean Society of International Agriculture
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    • v.31 no.4
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    • pp.428-436
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    • 2019
  • As the main objective of rice breeding programs, rice eating quality is one of critical factors directly determining the market price and the consumer preference. However, the genetic complexity of eating quality and the difficulty in accurate evaluation often constrain improvement of the eating quality in rice breeding programs. In addition, given that the rice eating quality of current cultivars has already reached some high-level, diversifying of genetic resources are demanded more than ever to improve the rice eating quality. In this study, we developed a recombinant inbred lines (RILs) population derive from Wandoaengmi6, a japonica-type Korean weedy rice with high eating quality and a high degree of glossiness of cooked rice. Year-to-year correlations between the traits in three years were shown normal distribution for major agronomic traits and physicochemical characteristics. After evaluating tested traits related to eating quality procedure, a total of ten lines were ultimately selected from the population. Increasement of the taste of cooked rice (TA) and the overall eating quality (OE) were confirmed in the selected lines, which are caused by alleles derived from Wandoaengmi6 without any linkage drag. These results indicate that the utility of wide genomic resources in Korean landrace could be of application in various rice breeding programs and countermeasure to contribute to properly response to climate change.

Studies on the Inheritance of Agronomic Characteristics in Upland Cotton Varieties (Gossypium hirsutum L.) in Korea (육지면품종의 유용형질의 유전에 관한 연구)

  • Bang-Myung Kae
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.21 no.2
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    • pp.281-313
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    • 1976
  • To obtain fundamental informations on cotton breeding efficiences for Korea, individual genetic relationships and interrelationships between the agronomic characteristics of Upland cotton were investigated. These experiments were couducted at the Mokpo Branch Station $(34^{\circ}48'N, $ $126^{\circ}23'E$ and altitude of 10m above sea level) from 1969 through 1972. Heterosis, combining ability, dominance and recessive gene action, genetic variance, and phenotypic and genotypic correlation were investigated by $F_1'S$ from an 11-parent partial diallel cross and the segregating $F_2$ and $F_3$ populations of the cross Paymaster times Heujueusseo Trice. The following points resulted from this study, 1. Heteroses for number of bolls per plant and lint yield were significant at 27, 84% and 37.26%, respectively. No other character had significant heteroses. 2. The GCA estimates for all studied characteristics were higher than the SCA estimates. Varieties with high GCA effects were Suwon 1 for earliness, Paymaster and Arijona for high lint percent, and Arijona for long fiber, etc, 3. SCA estimates for lint yield varied widely in crosses with Mokpo 4, Mokpo 6 and Heujueusseo Trice. Those crosses with the highest SCA effects were combinations with large characteristics differences, Example of these crosses are Mokpo 4 times Acala 1517W, Mokpo 4 times D. P. L. and Heujueusseo Trice aud Paymaster. 4. Early-maturing varieties were completely dominant to late-maturing varieties in some combinations while other crosses gave intermediate phenotypes. These results suggest additive genetic action by multi-genes. Heujueusseo Trice, Mokpo 6, and Suwon 1 showed highest degree of dominance for earliness. 5. There were no significant trends for inheritance of weight of boll and 100 seeds weight. 6. Long staple was partially to completely dominant to short staple. Though there were single gene ratios the rate of dominance decreased in the $F_2$ and $F_3$ populations in the cross between the long staple variety Paymaster and the short staple variety Heujueusseo Trice. Diallel cross $F_1$ hybrids showed complicated allelic gene action for staple length. Various dominance degree were shown by varieties. 7. Number of bolls per plant indicated strong over-dominance and small non-allelic additive gene action. 8. Lint Yield was characterized by over-dominance and by multiple non-allelic-gene action. High-yielding varieties were dominant to low-yielding ones. However, the low-yielding variety Heujueusseo Trice showed over-dominance, indicating different reactions according to the varieties and combinations. 9. Broad sense heritability for days to flowering was 34-39% while narrow sense heritability was 11%. Large variations of individual plants caused by Korean climatic conditions cause this situation. Heritability estimates for weight of boll was 30% for broad sense and 22% for narrow sense. 10. Heritability estimates for staple length and lint percent were very high suggesting strong selection effects. 11. Narrow sense heritability estimates for number of bolls per plant was 30% in the diallel cross $F_1$ hybrids and 36% in the $F_2$ population of the special cross. Broad sense heritability was estimated at 67% suggesting that. 12. Heritability estimates for lint yield was low due to high over-dominance in the diallel cross $F_1$ hybrids. Heritability estimates for yield was low in the $F_1$ hybrids but high in the $F_2$ and $F_3$ populations. 13. Phenotypic and genotypic correlations between lint percent and days to flowering and between staple length and days to flowering were high in the $F_1, $ $F_2$ and $F_3$ populations. Late-maturing varieties and individuals had long staple and high lint percent in general. As the correlation between days to flowering and lint yield was extremely low, the two traits were considered independent of each other. Days to flowering and number of bolls per plant were negatively correlated in the $F_3$ population, indicating early-maturing individual plants with many bolls may be readily selected. 14. Phenotypic and genotypic correlations between lint percent and staple length were high in $F_1, $ $F_2$ and $F_3$ populations. Accordingly, long staple varieties were high in lint percent. It was recognized that lint yield and lint percent were positively correlated in the diallel cross $F_1$ hybrids, and lint percent and staple length were positively correlated in the $F_2$ population, indicating that lint percent and staple length affect lint yield. 15. Lint yield was significantly and positively phenotypically correlated with number of bolls per plant in $F_1, $ $F_2$ and $F_3$ populations. A high genotypic correlation was also noted indicating a close genetic relationship. The selection efficiencies for a high-yielding variety can be increased when individual plants with many bolls are selected in later generations. The selection efficiencies for good fiber quality can be enhanced when individuals with long staple and high lint percent are selected in early generations.

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