Genomic Analysis of Two Siblings with 17.ALPHA.-Hydroxylase Deficiency and Hypertension.

  title={Genomic Analysis of Two Siblings with 17.ALPHA.-Hydroxylase Deficiency and Hypertension.},
  author={Eiji Kaneko and Yasushi Kobayashi and Y. Yasukochi and Y. Kishi and F. Numano},
  journal={Hypertension Research},
  • Eiji Kaneko, Yasushi Kobayashi, +2 authors F. Numano
  • Published 1994
  • Biology
  • Hypertension Research
  • 17α-hydroxylase/17, 20-lyase deficiency is an autosomal recessive disorder, which causes mineralcorticoid hypertension. Here we report two Japanese siblings, male and female, affected by 17α- hydrOxylase/17, 20-lyase deficiency. To clarify the molecular mechanism of the enzyme deficiency, we isolated the gene encoding 17α-hydroxylase/17, 20-lyase (CYP17) by polymerase chain reaction (PCR) from these patients, and compared its nucleotide sequences with those of normal CYP17. We confirmed only… CONTINUE READING
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