Khảo sát bất thường phân tử trong bệnh lý thiểu sản thượng thận bẩm sinh

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Tác giả: Đức Minh Đỗ, Văn Hoàng Lâm, Gia Hoàng Linh Lê

Ngôn ngữ: Vie

Ký hiệu phân loại: 616.61 *Diseases of kidneys and ureters

Thông tin xuất bản: Tạp chí Y học TP. Hồ Chí Minh 2021

Mô tả vật lý: 250-255

Bộ sưu tập: Metadata

ID: 410031

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Tóm tắt
Chủ đề

Thiểu sản thượng thận bẩm sinh (AHC: adrenal hypoplasia congenita) là một bệnh lý di truyền theo nhiễm sắc thể X đặc trưng bởi tình trạng suy thượng thận nguyên phát và suy sinh dục thứ phát gặp ở nam giới. Việc chẩn đoán chính xác bệnh lý này trên lâm sàng còn nhiều thách thức và thường cần có bằng chứng về bất thường di truyền. Đối tượng và phương pháp: Nghiên cứu thực nghệm, tiến hành xây dựng quy trình giải trình tự gen NR0B1. Hai bệnh nhân nghi ngờ AHC được khảo sát bất thường gen NR0B1 bằng phương pháp giải trình tự Sanger. Kết quả: Chúng tôi phát hiện 2 kiểu đột biến bán hợp tử gây bệnh ở 2 bệnh nhân được chẩn đoán AHC trên lâm sàng bao gồm c.1292delG (p. Cys431Ilefs*5) và c.622C>
T (p. Q208X) trên gen NR0B1. Cả 2 đột biến này đều đã được báo cáo là nguyên nhân gây bệnh AHC. Kết luận: Chúng tôi đã xây dựng thành công quy trình khảo sát bất thường gen NR0B1 giúp chẩn đoán chính xác bệnh lý AHC., Tóm tắt tiếng anh, X-linked adrenal hypoplasia congenita (AHC) is a rare hereditary disease characterized by primary adrenal insuffiency and hypogonadotropic hypogonadism in male patients. The accurate diagnosis of AHC is still a challenge in clinical practice and usually requires molecular evidences. Methods: This is an experimental study in which sequencing protocol of NR0B1 gene was established. NR0B1 gene sequencing was performed in two patients suspected with AHC. Results: Two hemizygous mutations were found in NR0B1 gene of the two probands including c.1292delG (p. Cys431Ilefs*5) and c.622C>
T (p. Q208X). These two mutations were previously reported to be associated with AHC. Conclusion: NR0B1 sequencing protocol was successfully developed and this allows the molecular diagnosis of AHC.

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