Xác định đột biến Q2933P trên gen FAT1 ở bệnh nhân bị thiểu năng trí tuệ trong một gia đình có nạn nhân chất độc dioxin ở Việt Nam

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Tác giả: Thị Kim Dung Lê, Đăng Tôn Nguyễn, Huy Hoàng Nguyễn, Ngọc Lan Nguyễn, Thị Hiền Nguyễn, Thị Kim Liên Nguyễn, Thị Thanh Ngân Nguyễn, Thu Hiền Nguyễn, Văn Tụng Nguyễn, Văn Hải Nông

Ngôn ngữ: vie

Ký hiệu phân loại: 616.97042 Other diseases

Thông tin xuất bản: Công nghệ Sinh học, 2018

Mô tả vật lý: 253-258

Bộ sưu tập: Metadata

ID: 492086

Thêm vào giỏ

Dioxins are a group of chemicals known as highly toxic environmental persistent organic pollutants (POPs). Numerous dioxin-like compounds have been identified, such as polychlorinated dibenzo-pdioxins (PCDDs), polychlorinated dibenzofurans (PCDFs), polychlorinated/polybrominated biphenyls (PCBs/PBBs), and 1,4-dioxin. The singular term dioxin refers to the most toxic compound, 2,3,7,8- tetrachlorodibenzodioxin (2,3,7,8-TCDD). Dioxin pollution caused by chemical warfare has been causing serious consequences to the ecological environment and especially to the health of Vietnamese people. In particular, dioxin was demonstrated to be the cause of many diseases, including diseases related to the nervous system of which intellectual disability is one of the 17 diseases have been recognized by Vietnam. Deformities, birth defects, intellectual disability have been detected in F1 and F2 generations of the exposed victims. Dioxin may cause changes in the whole genome / genome expression (exome), or the structure and function of the gene that leads to pathogenesis in the exposed people and the genetic changes can be passed on to the next generations. In the present study, the Whole Exome Sequencing (WES) method was used to analyze and identify genetic variants related to the intellectual disability in a dioxin exposed victim's family in Vietnam. The screening results revealed that a Gln2933Pro heterozygous mutant in the FAT1 (Fat atypical cadherin 1) gene of the patient was inherited from the patient's father whose high blood concentration of dioxin, as well as illustrated the changes in the protein structure. In addition to the important scientific implications, this result might be essential for providing counseling for families who are the dioxin victims.Giải trình tự toàn bộ hệ gen biểu hiện (Whole exome sequencing-WES) đã được sử dụng để nghiên cứu và xác định các biến dị di truyền liên quan đến bệnh thiểu năng trí tuệ trong gia đình có nạn nhân bị nhiễm dioxin ở Việt Nam. Kết quả sàng lọc cho thấy một đột biến thay thế dạng dị hợp tử Gln2933Pro trên gen FAT1 (Fat atypical cadherin 1) của bệnh nhân được di truyền từ người cha có nồng độ dioxin trong máu cao, cũng như những thay đổi về cấu trúc protein này. Ngoài ý nghĩa khoa học quan trọng, kết quả này có thể cần thiết cho việc hỗ trợ tư vấn cho các gia đình là nạn nhân chất độc dioxin.

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