• 제목/요약/키워드: PHKA2

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엑솜 시퀀싱으로 진단된 가족성 당원병 IXa 형 증례 (Familial Glycogen Storage Disease Type IXa Diagnosed by Targeted Exome Sequencing)

  • 손영배;장주영;이다근;장자현
    • 대한유전성대사질환학회지
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    • 제17권3호
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    • pp.96-102
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    • 2017
  • 당원병 IX형은 phosphorylase kinase 효소 결핍으로 분해되지 않은 당원이 간 또는 근육에 축적되는 유전성대사이상질환이다. 당원병 IXa형은 당원병 IX형 중 가장 흔한 형태로 PHKA2 유전자 변이로 발생한다. 당원병 IXa형의 임상증상은 간 비대, 간 효소 수치 상승, 성장 지연, 저혈당 등이 있다. 그러나, 이러한 임상 증상은 다른 타입의 당원병의 증상과 비슷하거나 겹쳐서 임상적으로는 구분하기가 어렵다. 저자들은 표적 엑솜 시퀀싱으로 진단된 가족성 당원병 IXa형 증례를 보고하고자 한다. 4세 남아가 간 비대와 간 효소 수치 상승을 주소로 내원하였다. 간 조직검사결과 간세포에 당원이 축적되어 있어 당원병을 의심하였으나 G6PC 유전자 검사는 음성이었다. 이에 당원병 타입을 감별진단 하기 위해 표적 엑솜시퀀싱을 시행하였으며, PHKA2 유전자에서 질환과의 연관성이 이미 보고된 바 있는 c.3632C>T (p.Thr121Met) 변이가 반접합체(hemizygote)로 발견되어 당원병 IXa로 진단하였다. 가족 유전자 검사를 통해 어머니가 이형접합체 보인자임을 확인하였으며, 남동생이 같은 변이를 가진 반접합체임을 확인하였다. 28개월 된 환자의 남동생 역시 신체 검진 상 간 비대가 있었으며, 혈액검사상 간 효소 수치가 상승되어 있어 같은 질환으로 확진하였다. 이환된 형제 모두 생 옥수수 전분 섭취와 복합 탄수화물을 섭취하도록 식이 조절을 하였으며 2년 추적관찰 동안 정상 성장 발달을 보이고 있다. 당원병과 같이 임상적으로 구분이 어려우며 유전학적으로 다양한 유전자 변이를 보이는 당원병과 같은 질환의 분자 유전학적 감별진단에 표적 엑솜 시퀀싱이 유용한 진단법이 될 수 있다. 신속하고 정확한 분자 유전학적 감별진단을 통해 환자와 보호자에게 질병의 적절한 치료법, 질병의 예후에 관한 정확한 정보를 제공할 수 있을 뿐 아니라, 적절한 유전상담을 제공할 수 있다.

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Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly

  • Kim, Jung Ah;Kim, Ja Hye;Lee, Beom Hee;Kim, Gu-Hwan;Shin, Yoon S.;Yoo, Han-Wook;Kim, Kyung Mo
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • 제18권2호
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    • pp.138-143
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    • 2015
  • Glycogen storage disease type IX (GSD IX) is caused by a defect in phosphorylase b kinase (PhK) that results from mutations in the PHKA2, PHKB, and PHKG2 genes. Patients usually manifest recurrent ketotic hypoglycemia with growth delay, but some may present simple hepatomegaly. Although GSD IX is one of the most common causes of GSDs, its biochemical and genetic diagnosis has been problematic due to its rarity, phenotypic overlap with other types of GSDs, and genetic heterogeneities. In our report, a 22-month-old boy with GSD IX is described. No other manifestations were evident except for hepatomegaly. His growth and development also have been proceeding normally. Diagnosed was made by histologic examination, an enzyme assay, and genetic testing with known c.3210_3212del (p.Arg1070del) mutation in PHKA2 gene.

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
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    • 한국작물학회 2017년도 9th Asian Crop Science Association conference
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    • pp.363-363
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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 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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