A case of first trimester prenatal diagnosis of 21-hydroxylase deficiency with human complement C4 cDNA probe.
Early prenatal diagnosis of 21-hydroxylase (21-OHase) deficiency would enable treatment to be done to protect the fetus from masculinization and/or life-threatening adrenal crisis at birth. We report here the prenatal diagnosis of 21-OHase deficiency with human complement component C4 cDNA to probe DNA from chorionic villi at 10 weeks of gestation. Southern analysis with human C4 cDNA identified TaqI restriction fragment length polymorphisms (RFLPs) in the family. Family analysis with these RELPs showed that the fetus was not affected at greater than 99% probability, because the frequency of recombination between the 21-OHase B gene and the C4 gene would be extremely low.
Nakura
J
J
Department of Geriatric Medicine, Osaka University Medical School, Japan.
Miki
T
T
Nishikawa
K
K
Takemoto
Y
Y
Kamino
K
K
Takai
S
S
Hayashi
K
K
Ogihara
T
T
D000312:Adrenal Hyperplasia, Congenital; D000328:Adult; D015139:Blotting, Southern; D003181:Complement C4; D015935:Complement C4b; D004247:DNA / Q000032:analysis; D015342:DNA Probes; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism; D010375:Pedigree; D010446:Peptide Fragments; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis
D003181:Complement C4; D015342:DNA Probes; D010446:Peptide Fragments; C033860:complement C4c; D015935:Complement C4b; D004247:DNA