Prenatal diagnosis of 21-hydroxylase deficiency by the complementary deoxyribonucleic acid probe for cytochrome P-450C-21OH.
The availability of the complementary deoxyribonucleic acid probe for cytochrome P-450C-21OH and the identification of specific gene defects in some families with congenital adrenal hyperplasia have made prenatal diagnosis feasible. Deoxyribonucleic acid samples from amniocytes of a fetus at 16 weeks' gestation, one previously affected son, and their parents were digested with the restriction enzymes Tag1 [corrected] or EcoRI and hybridized to the cytochrome P-450C-21OH complementary deoxyribonucleic acid probe. The previously affected son and the fetus both lacked the Tag1 [corrected] 3.7 kb band. At the time of delivery, the second child had a cord blood 17 alpha-hydroxyprogesterone level of 8000 ng/dl. The absence of the 3.7 kb Tag1 [corrected] fragment in affected members of this family made possible the use of deoxyribonucleic acid analysis for prenatal diagnosis.
Reindollar
R H
RH
Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta.
Lewis
J B
JB
White
P C
PC
Fernhoff
P M
PM
McDonough
P G
PG
Whitney
J B
JB
D019326:17-alpha-Hydroxyprogesterone; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000235:genetics; D000653:Amniotic Fluid / Q000032:analysis / Q000166:cytology; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D004247:DNA; D004262:DNA Restriction Enzymes; D006801:Humans; D006908:Hydroxyprogesterones / Q000032:analysis; D010375:Pedigree; D011296:Prenatal Diagnosis; D013255:Steroid 21-Hydroxylase / Q000235:genetics; D013250:Steroid Hydroxylases / Q000172:deficiency*
D006908:Hydroxyprogesterones; D019326:17-alpha-Hydroxyprogesterone; D004247:DNA; D003577:Cytochrome P-450 Enzyme System; D013250:Steroid Hydroxylases; D013255:Steroid 21-Hydroxylase; D004262:DNA Restriction Enzymes