The present invention features a highly sensitive assay for detecting frameshift mutations for high throughput use. Also provided herein are methods for diagnosing or determining a predisposition for developing medullary cystic kidney disease type 1 (MCKD1) in a subject by detecting a frameshift mutation in the GC-rich variable number of tandem repeats (VNTR) sequence of the mucin 1 gene (MUC-1).
本发明的特点是一种用于高通量检测换框突变的高灵敏度检测方法。本发明还提供了通过检测粘蛋白 1
基因(MUC-1)富含 GC 的可变串联重复序列(VNTR)中的换框突变来诊断或确定受试者易患 1 型髓样囊性肾病(
MCKD1)的方法。