Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene

@article{Zhang1994StudyingHM,
  title={Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene},
  author={Lin Zhang and Esther P. Leeflang and Jian Yu and Norman Arnheim},
  journal={Nature Genetics},
  year={1994},
  volume={7},
  pages={531-535}
}
Trinucleotide repeat mutations of normal alleles at the human androgen receptor locus were studied by typing ∼4,300 sperm. Control experiments established that the mutation events were of germline origin. The mutation rate for 20–22 repeat alleles was similar to that shown by family analysis. Alleles with 28–31 repeats had a 4.4 times greater rate of mutation with contractions outnumbering expansions. Preliminary experiments on the trinucleotide repeat associated with myotonic dystrophy gave… CONTINUE READING

From This Paper

Topics from this paper.
36 Citations
0 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 36 extracted citations

Similar Papers

Loading similar papers…