Một kiểu gen 45,X/46,X,4(?) dạng môsaic được nghiên cứu bằng cách sử dụng các đầu dò cụ thể cho tâm động của nhiễm sắc thể X và Y thông qua kỹ thuật hybrid hóa tại chỗ không tự phóng xạ

Springer Science and Business Media LLC - Tập 81 - Trang 81-84 - 1988
J. A. Crolla1, J. C. Llerena1
1Paediatric Research Unit, Division of Medical and Molecular Genetics, United Medical and Dental Schools of Guy's and St. Thoma's Hospitals, Guy's Hospital, London, UK

Tóm tắt

Nguồn gốc nhiễm sắc thể giới tính của nhiễm sắc thể vòng trong một bệnh nhân nữ chưa dậy thì không có triệu chứng nam tính với kiểu gen 45,X/46,X,r(?) không thể được làm sáng tỏ bằng các phương pháp sinh học tế bào thông thường (bao gồm cả G11). Các đầu dò chuỗi lặp lại alphoid cụ thể cho tâm động X và Y đã được biotin hóa và không sử dụng tự phóng xạ để nhanh chóng và rõ ràng xác định rằng nhiễm sắc thể vòng này có nguồn gốc từ nhiễm sắc thể X.

Từ khóa

#nhiễm sắc thể vòng #kiểu gen môsaic #hybrid hóa tại chỗ #đầu dò tâm động cụ thể #nữ không dậy thì

Tài liệu tham khảo

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