E-ISSN 0976-2779 | ISSN 0975-8453
 

Review Article 


Ratio of JAG1 and NOTCH2 gene mutation characteristics in children with alagille syndrome at Children’s hospital 1 in Ho Chi Minh city, Vietnam

Tram Van Ta*, Tuan Anh Nguyen, Truong Viet Nguyen.

Abstract
Background: The early diagnosis of ALGS is crucial because the disease is often a variable expression, and the symptoms are similar to other pathologies, especially biliary tract atrophy. The primary objective of this study was determined of the ratio of JAG1 and NOTCH2 gene mutation characteristics in children with Alagille syndrome (ALGS).
Methods: Batch description of the cases was performed on 32 pediatric patients with ALGS treated at Childrend’s Hospital 1 from February 2015 to December 2018.
Results: Based on the study of 32 children with ALGS, the following results were obtained: The JAG1 gene mutation detection rate is 75%; No instances of NOTCH2 gene mutation were detected. The meaningless mutation rate was 33%, the false means was 29%, the split frame was 21%, the cutting connector was 13%, and the loss of the small segment was 4%. Mutations were distributed on most exons, and the surge screening ratio of JAG1 patient’s relatives with mutations was 23.5%.
Conclusion: Results indicated that early diagnosis of ALGS based on JAG1 or NOTCH2 mutations is possible.

Key words: ALGS, Alagille syndrome, gene mutation, JAG1, NOTCH2, Vietnam.


 
ARTICLE TOOLS
Abstract
PDF Fulltext
How to cite this articleHow to cite this article
Citation Tools
Related Records
 Articles by Tram Van Ta*
Articles by Tuan Anh Nguyen
Articles by Truong Viet Nguyen
on Google
on Google Scholar


How to Cite this Article
Pubmed Style

Tram Van Ta, Tuan Anh Nguyen, Truong Viet Nguyen. Ratio of JAG1 and NOTCH2 gene mutation characteristics in children with alagille syndrome at Children’s hospital 1 in Ho Chi Minh city, Vietnam . SRP. 2019; 10(1): 173-178. doi:10.5530/srp.2019.1.32


Web Style

Tram Van Ta, Tuan Anh Nguyen, Truong Viet Nguyen. Ratio of JAG1 and NOTCH2 gene mutation characteristics in children with alagille syndrome at Children’s hospital 1 in Ho Chi Minh city, Vietnam . http://www.sysrevpharm.org//?mno=302644894 [Access: June 01, 2020]. doi:10.5530/srp.2019.1.32


AMA (American Medical Association) Style

Tram Van Ta, Tuan Anh Nguyen, Truong Viet Nguyen. Ratio of JAG1 and NOTCH2 gene mutation characteristics in children with alagille syndrome at Children’s hospital 1 in Ho Chi Minh city, Vietnam . SRP. 2019; 10(1): 173-178. doi:10.5530/srp.2019.1.32



Vancouver/ICMJE Style

Tram Van Ta, Tuan Anh Nguyen, Truong Viet Nguyen. Ratio of JAG1 and NOTCH2 gene mutation characteristics in children with alagille syndrome at Children’s hospital 1 in Ho Chi Minh city, Vietnam . SRP. (2019), [cited June 01, 2020]; 10(1): 173-178. doi:10.5530/srp.2019.1.32



Harvard Style

Tram Van Ta, Tuan Anh Nguyen, Truong Viet Nguyen (2019) Ratio of JAG1 and NOTCH2 gene mutation characteristics in children with alagille syndrome at Children’s hospital 1 in Ho Chi Minh city, Vietnam . SRP, 10 (1), 173-178. doi:10.5530/srp.2019.1.32



Turabian Style

Tram Van Ta, Tuan Anh Nguyen, Truong Viet Nguyen. 2019. Ratio of JAG1 and NOTCH2 gene mutation characteristics in children with alagille syndrome at Children’s hospital 1 in Ho Chi Minh city, Vietnam . Systematic Reviews in Pharmacy, 10 (1), 173-178. doi:10.5530/srp.2019.1.32



Chicago Style

Tram Van Ta, Tuan Anh Nguyen, Truong Viet Nguyen. "Ratio of JAG1 and NOTCH2 gene mutation characteristics in children with alagille syndrome at Children’s hospital 1 in Ho Chi Minh city, Vietnam ." Systematic Reviews in Pharmacy 10 (2019), 173-178. doi:10.5530/srp.2019.1.32



MLA (The Modern Language Association) Style

Tram Van Ta, Tuan Anh Nguyen, Truong Viet Nguyen. "Ratio of JAG1 and NOTCH2 gene mutation characteristics in children with alagille syndrome at Children’s hospital 1 in Ho Chi Minh city, Vietnam ." Systematic Reviews in Pharmacy 10.1 (2019), 173-178. Print. doi:10.5530/srp.2019.1.32



APA (American Psychological Association) Style

Tram Van Ta, Tuan Anh Nguyen, Truong Viet Nguyen (2019) Ratio of JAG1 and NOTCH2 gene mutation characteristics in children with alagille syndrome at Children’s hospital 1 in Ho Chi Minh city, Vietnam . Systematic Reviews in Pharmacy, 10 (1), 173-178. doi:10.5530/srp.2019.1.32





Most Viewed Articles
  • Dental Development between Assisted Reproductive Therapy (Art) and Natural Conceived Children: A Comparative Pilot Study
    Norzaiti Mohd Kenali, Naimah Hasanah Mohd Fathil, Norbasyirah Bohari, Ahmad Faisal Ismail, Roszaman Ramli
    SRP. 2020; 11(1): 01-06
    » Abstract » doi: 10.5530/srp.2020.1.01

  • Psychometric properties of the World Health Organization Quality of life instrument, short form: Validity in the Vietnamese healthcare context
    Trung Quang Vo*, Bao Tran Thuy Tran, Ngan Thuy Nguyen, Tram ThiHuyen Nguyen, Thuy Phan Chung Tran
    SRP. 2020; 11(1): 14-22
    » Abstract » doi: 10.5530/srp.2020.1.03

  • A Prospective Review on Phyto-Pharmacological Aspects of Andrographis paniculata
    Govindraj Akilandeswari, Arumugam Vijaya Anand, Palanisamy Sampathkumar, Puthamohan Vinayaga Moorthi, Basavaraju Preethi
    SRP. 2019; 10(1): 15-19
    » Abstract » doi: 10.5530/srp.2019.1.3

  • A Review of Pharmacoeconomics: the key to “Healthcare for All”
    Hasamnis AA, Patil SS, Shaik Imam, Narendiran K
    SRP. 2019; 10(1): s40-s42
    » Abstract » doi: 10.5530/srp.2019.1s.21

  • Deuterium Depleted Water as an Adjuvant in Treatment of Cancer
    Anton Syroeshkin, Olga Levitskaya, Elena Uspenskaya, Tatiana Pleteneva, Daria Romaykina, Daria Ermakova
    SRP. 2019; 10(1): 112-117
    » Abstract » doi: 10.5530/srp.2019.1.19

  • Most Downloaded
  • Dental Development between Assisted Reproductive Therapy (Art) and Natural Conceived Children: A Comparative Pilot Study
    Norzaiti Mohd Kenali, Naimah Hasanah Mohd Fathil, Norbasyirah Bohari, Ahmad Faisal Ismail, Roszaman Ramli
    SRP. 2020; 11(1): 01-06
    » Abstract » doi: 10.5530/srp.2020.1.01

  • Manilkara zapota (L.) Royen Fruit Peel: A Phytochemical and Pharmacological Review
    Karle Pravin P, Dhawale Shashikant C
    SRP. 2019; 10(1): 11-14
    » Abstract » doi: 0.5530/srp.2019.1.2

  • Pharmacognostic and Phytopharmacological Overview on Bombax ceiba
    Pankaj Haribhau Chaudhary, Mukund Ganeshrao Tawar
    SRP. 2019; 10(1): 20-25
    » Abstract » doi: 10.5530/srp.2019.1.4

  • A Review of Pharmacoeconomics: the key to “Healthcare for All”
    Hasamnis AA, Patil SS, Shaik Imam, Narendiran K
    SRP. 2019; 10(1): s40-s42
    » Abstract » doi: 10.5530/srp.2019.1s.21

  • A Prospective Review on Phyto-Pharmacological Aspects of Andrographis paniculata
    Govindraj Akilandeswari, Arumugam Vijaya Anand, Palanisamy Sampathkumar, Puthamohan Vinayaga Moorthi, Basavaraju Preethi
    SRP. 2019; 10(1): 15-19
    » Abstract » doi: 10.5530/srp.2019.1.3

  • Most Cited Articles