• 제목/요약/키워드: PHKA1

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당원 축적병 9D (GSD9D) 환자의 신규 PHKA1 돌연변이 (A Novel PHKA1 Mutation in a Patient with Glycogen Storage Disease Type IXD)

  • 김혜진;남수현;김상범;정기화;최병옥
    • 생명과학회지
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    • 제30권8호
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    • pp.672-679
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    • 2020
  • 원위 근병증은 원위 근육의 퇴행성 질환이며 임상적, 유전적으로 이질적인 그룹이다. 당원 축적병 9D (GSD9D)는 원위 근병증 중 하나이며, 근육의 포스포릴라아제키나아제(phosphorylase kinase) 결핍을 특징으로 하는 대사 근병증이다. GSD9D 환자는 운동 후 근육 약화, 근육 변성, 경련과 비정상적인 근육통 및 근육 경직이 발생될 수 있다. GSD9D는 글리코겐 대사의 주요 조절 효소 인 근육 포스포릴라아제키나아제의 알파 소단위를 암호화하는 PHKA1 유전자의 돌연변이로 유발된다. 이 연구에서 우리는 한국인 GSD9D 가족에 대해 PHKA1 유전자에서 c.3314T> C (p.I1105T) 돌연변이를 동정하였다. 이 돌연변이는 이전에 어떠한 돌연변이 데이터베이스에서도 보고되지 않았으며 500명의 건강한 대조군에서도 발견되지 않았다. 이 돌연변이 영역은 다양한 다른 종 내에서 잘 보존되었으며 in silico 분석에서 돌연변이가 병원성일 가능성이 있다고 예측했다. 현재까지 PHKA1 유전자에는 보고된 병원성 돌연변이가 7개뿐이며 한국에서는 보고된 사례가 없다. 따라서 이 연구는 한국 GSD9D 환자의 첫번째 사례이다. 또한 이 연구는 이전에 보고된 환자와 한국 환자의 임상 증상과 병리 상태를 비교하고 설명하고자 하였다. 아울러 우리는 본 연구가 GSD9D의 분자 진단에 유용하게 활용될 것으로 기대한다.

Growth and yield components of rice under different NPK rates in Prateah Lang soil type in Cambodia

  • Kea, Kong;Sarom, Men;Vang, Seng;Kato, Yoichiro;Yamauchi, Akira;Ehara, Hiroshi
    • 한국작물학회:학술대회논문집
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    • 한국작물학회 2017년도 9th Asian Crop Science Association conference
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    • pp.361-361
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    • 2017
  • The NPK are known as macro elements that affect crop growth and yield. In 1989, Cambodia Agricultural Research and Development Institute (CARDI) gave a recommendation rate of fertilizer on rice production based on soil types. This recommended rate of NPK seems however relatively low as compared to farmers' practices nowadays and the amount in the neighboring countries. The CARDI recommended rate for Prateah Lang soil type is 50kg N, $25kg\;P_2O_5$, $25kg\;K_2O\;ha^{-1}$ while recent farmers' practice rates are 55 - 64kg N, 24 - 46kg $P_2O_5$, $30kg\;K_2O\;ha^{-1}$. However, the overuse of chemical fertilizer will lead to un-preferable plant growth, insect pest, disease and economic yield. Thus, we examined the effect of different NPK application rates on the growth and yield components in Prateah Lang soil type in Takeo province to investigate appropriate rates for improving rice productivity with economic efficiency. This study was conducted from July to November during wet season in 2013. A multi-locational trial with 6 treatments (T0 - T5) of NPK rates in 5 locations (trial 1 - 5) with 3 replications was conducted. The different combinations of NPK application were employed from 0, 50, 60, 80, 100, $120kg\;N\;ha^{-1}$, 0, 25, 30 45, $60kg\;P_2O_5\;ha^{-1}$ and 0, 15, 25, 30, $45kg\;K_2O\;ha^{-1}$. Urea, DAP and KCl were used for fertilization. Split application was employed [basal: 20% of N, 100% of P and K, top dressing-1st: 40% of N (30DAT), 2nd: 40% of N (PI stage)]. Three-week-old seedlings of var. Phka Rumdoul were transplanted with 2 - 3 seedlings $hill^{-1}$ with $20cm{\times}20cm$ spacing. Plant length, tiller number at the maximum tillering stage and yield components were measured. The different rates of NPK application affected some yield components. The panicle number per hill was the most important key component followed by the spikelet number per panicle. However, the other parameters such as the filled grain percentage and 1000 grains weight had small effect or weak relation with the yield. Although the panicle number per hill had a significantly positive correlation with the stem number per hill, it was not correlated with the percentage of productive culms. The variation in the grain yield among the 5 trials was small and the difference was not significant. Although the yield tended to be higher at higher N and P application, there was no significant difference above 60kg N and $30kg\;P_2O_5$. The yield was the highest at 15, 30 and $45kg\;K_2O$ followed by $25kg\;K_2O$. The relationships between N, P and the stem number per hill were significantly linear positive, though it was not linear between K and the stem number. From these results, to increase rice productivity in the target area, farmers' effort to increase N and P input rather than CARDI recommendation up to 60kg N and $30kg\;P_2O_5$ will be sufficient considering economic efficiency. Besides, the amount of K application should be reconsidered.

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Growth and yield components of rice under different NPK rates in prateah lang soil type in cambodia

  • Kea, Kong;Sarom, Men;Vang, Seng;Kato, Yoichiro;Yamauchi, Akira;Ehara, Hiroshi
    • 한국작물학회:학술대회논문집
    • /
    • 한국작물학회 2017년도 9th Asian Crop Science Association conference
    • /
    • pp.363-363
    • /
    • 2017
  • The NPK are known as macro elements that affect crop growth and yield. In 1989, Cambodia Agricultural Research and Development Institute (CARDI) gave a recommendation rate of fertilizer on rice production based on soil types. This recommended rate of NPK seems however relatively low as compared to farmers' practices nowadays and the amount in the neighboring countries. The CARDI recommended rate for Prateah Lang soil type is 50kg N, 25kg P2O5, 25kg K2O ha-1 while recent farmers' practice rates are 55 - 64kg N, 24 - 46kg P2O5, 30kg K2O ha-1. However, the overuse of chemical fertilizer will lead to un-preferable plant growth, insect pest, disease and economic yield. Thus, we examined the effect of different NPK application rates on the growth and yield components in Prateah Lang soil type in Takeo province to investigate appropriate rates for improving rice productivity with economic efficiency. This study was conducted from July to November during wet season in 2013. A multi-locational trial with 6 treatments (T0 - T5) of NPK rates in 5 locations (trial 1 - 5) with 3 replications was conducted. The different combinations of NPK application were employed from 0, 50, 60, 80, 100, 120kg N ha-1, 0, 25, 30 45, 60kg P2O5 ha-1 and 0, 15, 25, 30, 45kg K2O ha-1. Urea, DAP and KCl were used for fertilization. Split application was employed [basal: 20% of N, 100% of P and K, top dressing-1st: 40% of N (30DAT), 2nd: 40% of N (PI stage)]. Three-week-old seedlings of var. Phka Rumdoul were transplanted with 2 - 3 seedlings hill-1 with $20cm{\times}20cm$ spacing. Plant length, tiller number at the maximum tillering stage and yield components were measured. The different rates of NPK application affected some yield components. The panicle number per hill was the most important key component followed by the spikelet number per panicle. However, the other parameters such as the filled grain percentage and 1000 grains weight had small effect or weak relation with the yield. Although the panicle number per hill had a significantly positive correlation with the stem number per hill, it was not correlated with the percentage of productive culms. The variation in the grain yield among the 5 trials was small and the difference was not significant. Although the yield tended to be higher at higher N and P application, there was no significant difference above 60kg N and 30kg P2O5. The yield was the highest at 15, 30 and 45kg K2O followed by 25kg K2O. The relationships between N, P and the stem number per hill were significantly linear positive, though it was not linear between K and the stem number. From these results, to increase rice productivity in the target area, farmers' effort to increase N and P input rather than CARDI recommendation up to 60kg N and 30kg P2O5 will be sufficient considering economic efficiency. Besides, the amount of K application should be reconsidered.

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