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Updated: Apr 20, 2026
Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
[Molecular diagnosis for a patient with Kennedy disease]
Jianqiang Tan1, Shuaiwu Huang, Han Wang
1Institute of Basic Medical Sciences Chinese Academy of Medical Sciences School of Basic Medicine Peking Union Medical College, Beijing 100005, P. R. China. xiulizhao@ibms.pumc.edu.cn.
Objective:
To screen for potential mutations of androgen receptor (AR) gene in a patient clinically diagnosed as Kennedy disease.
Methods:
Polyglutamine expansion (PQE) induced by a duplication of CAG trinucleotide tandem-repeat in exon 1 of the AR gene was detected with PCR and T-clone sequencing.
Results:
Compared with the number of CAG repeat of 22 in the normal allele, the number of CAG repeats has increased to 45 in the mutant allele carried by the patient. This has fit with the diagnostic criteria for Kennedy disease.
Conclusion:
A mutation of PQE has been detected in the patient with Kennedy disease. Detection of PQE in AR gene can be used as reliable method to identify the Kennedy disease.
