Rapid screening method to detect mutations in CYP21, the gene for 21-hydroxylase.

@article{Yokoyama2000RapidSM,
  title={Rapid screening method to detect mutations in CYP21, the gene for 21-hydroxylase.},
  author={Yoshie Yokoyama and Michio Teraoka and Keiko Tsuji and Shinsuke Ninomiya and Chihiro Inoue and Shunichi Yamashita and Kouji Narahara and Yoshiki Seino},
  journal={American journal of medical genetics},
  year={2000},
  volume={94 1},
  pages={28-31}
}
To facilitate a rapid and practical molecular diagnosis of 21-hydroxylase deficiency (21-OHD), we developed a polymerase chain reaction (PCR) test in which only the 21-OH gene (CYP21) is amplified. We applied the test to diagnose 23 patients with salt-wasting type of 21-OHD. The upstream and downstream sequences of CYP21 have been specifically amplified by using a primer set containing the 8-bp deletion sequence of exon 3, which is distinct from its pseudogene CYP21P. The amplified PCR products… CONTINUE READING
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