Phát hiện đột biến mới trên gen ESCO2 trên bệnh nhi mắc dị tật dính ngón bàn tay bẩm sinh

Bài viết này tập trung vào phát hiện các đột biến gen xảy ra ở một bệnh nhi bị dị tật dính ngón 3 và 4 đối xứng ở hai bên bàn tay bằng kỹ thuật giải trình tự hệ gen biểu hiện dựa trên công nghệ giải trình tự thế hệ mới. | VNU Journal of Science Natural Sciences and Technology Vol. 36 No. 3 2020 10-16 Original Article Detection of a Novel Mutation on the Gene ESCO2 in a Pediatric Patient with Syndactyly Nguyen Thy Ngoc1 2 Le Thi Van Anh1 Nguyen Thuy Duong2 3 Nong Van Hai2 3 1 University of Science and Technology of Hanoi Vietnam Academy of Science and Technology 18 Hoang Quoc Viet Cau Giay Hanoi Vietnam 2 Graduate University of Science and Technology Vietnam Academy of Science and Technology 18 Hoang Quoc Viet Cau Giay Hanoi Vietnam 3 Institute of Genome Research Vietnam Academy of Science and Technology 18 Hoang Quoc Viet Cau Giay Hanoi Vietnam Received 05 January 2020 Revised 24 April 2020 Accepted 25 April 2020 Abstract Syndactyly is a congenital disease caused by the limb formation abnormalities during fetal development. In this research we studied the genetic mutations in a pediatric patient with 3 rd and 4th fingers were fused together symmetrically using the whole exome sequencing techniques based on Next generation sequencing. The obtained data revealed a novel mutation located in exon 11 of the gene ESCO2 gt G gt R. Sequence verification by Sanger sequencing confirmed the existence of this mutation in the patient as heterozygous form. In silico prediction using PredictSNP PhD-SNP PROVEAN or Polyphen-2 tools indicated that the mutation was likely to affect the structure and function of Acetyltransferase encoded by ESCO2 gene . Further studies will be performed to analyze the effect of this mutations on the intracellular protein network associated with syndactyly. Keywords Congenital disorder syndactyly. Genetic mutation ESCO2 child Vietnam. ____ Corresponding author. Email address https 2588-1140 10 . Ngoc et al. VNU Journal of Science Natural Sciences and Technology Vol. 36 No. 3 2020 10-16 11 Phát hiện đột biến mới trên gen ESCO2 trên bệnh nhi mắc dị tật dính ngón bàn tay bẩm sinh Nguyễn Thy .