Ratio of JAG1 and NOTCH2 gene mutation characteristics in children with alagille syndrome at Children's hospital 1 in Ho Chi Minh city, Vietnam
Abstract
Tram Van Ta, Tuan Anh Nguyen, Truong Viet Nguyen
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.
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| 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: March 29, 2021]. 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 March 29, 2021]; 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 |
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