Tính chất đột biến gene APOB và LDLR trên bệnh tăng cholesterol máu ở người Việt Nam

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Tác giả: Trương Kim Phượng, Lê Huyền Ái Thúy, Thy Đỗ Nguyễn Mai, Nguyễn Bảo Toàn

Ngôn ngữ: vie

Ký hiệu phân loại:

Thông tin xuất bản: Tạp chí khoa học Đại học Mở Thành phố Hồ Chí Minh - Kỹ thuật và Công nghệ, 2022

Mô tả vật lý: tr.52-63

Bộ sưu tập: Metadata

ID: 334181

Thêm vào giỏ Liên kết toàn văn

Bệnh lý rối loạn tăng cholesterol máu ở dạng có tính chất gia đình (FH) với nguyên nhân là sự xuất hiện đột biến tác động đến chức năng của gene APOB và LDLR. Nghiên cứu phân tích đặc điểm phân tử tập trung ở vùng trình tự exon 26 gene APOB và exon 4 gene LDLR trên người bệnh tăng cholesterol máu ở Việt Nam, bằng phương pháp PCR kết hợp với giải trình tự. Trên bộ mẫu bệnh phẩm máu (37 mẫu), nghiên cứu ghi nhận tỷ lệ đột biến trên gene APOB là 32.42%, gene LDLR là 35.10%, đột biến xuất hiện đồng thời trên gene APOB và LDLR có tỷ lệ 10.81% trong 37 mẫu tăng cholesterol máu. Một số dạng biến thể mới, đặc trưng xuất hiện trên DNA bộ gen người bệnh tăng cholesterol máu ở Việt Nam, cụ thể là c.10550C>
G (p.A3517G), c.10575C>
A (p.S3525R) và c.10560C>
(p.Y3520*) ở gene APOB
c.21038C>
T (p.P171L), c.21001A>
T (p.T159S) và insC376 (c.ins20903C) ở gene LDLR. Kết quả nghiên cứu là cơ sở khoa học thực tiễn, hỗ trợ phát triển công cụ sàng lọc, chẩn đoán sớm bệnh lý tăng choleslesterol máu - bệnh FH ở Việt Nam.Hypercholesterolemia is known as Familial Hypercholesterolemia (FH) that is caused by the presence of mutations in APOB and LDLR genes. Study was conducted to analysis the genetic characteristics of exon 26 APOB gene and exon 4 LDLR gene in Vietnamese patients with hypercholesterolemia, by performing the combination of PCR and Sanger sequencing. On total of 37 blood samples, the study found out the mutation frequencies of APOB and LDLR genes were 32.42% and 35.10%, respectively. Rate of mutations which occurred on both of those target genes in one same sample was 10.81%. Some novel variants were characterized, namely c.10550C>
G (p.A3517G), c.10575C>
A (p.S3525R), and c.10560C>
(p.Y3520*) in APOB gene
c.21038C>
T (p.P171L), c.21001A>
T (p.T159S), and insC376 (c.ins20903C) in LDLR gene. Results of this study are critical data onto supporting the development of effective tools for diagnosis and early treatment of hypercholesterolemia as FH in Vietnam.

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