Prenatal Diagnosis of Steroid 21-Hydroxylase Deficiency by the Modified Polymerase Chain Reaction to Detect Splice Site Mutation in the CYP21 Gene

A splicing junction mutation at nucleotide 656 (A->G substitution, I2G) in the steroid 21-hydroxylase gene (CYP21) is the most frequently detected mutation in patients with the salt-wasting and simple-virilizing forms of steroid 21-hydroxylase deficiency (approximately 60%). In this disease, pren...

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Veröffentlicht in:	ENDOCRINE JOURNAL 1998, Vol.45(3), pp.291-295
Hauptverfasser:	TAJIMA, TOSHIHIRO, FUJIEDA, KENJI, MIKAMI, ATUSHI, IGARASHI, YUTAKA, NAKAE, JUN, JR, GORDON B CUTLER
Format:	Artikel
Sprache:	eng
Schlagworte:	Adrenal Hyperplasia, Congenital Base Pair Mismatch Binding Sites Chorionic Villi Sampling Chorionic villus sampling DNA Mutational Analysis - methods Female Humans Male Polymerase Chain Reaction Prenatal diagnosis RNA Splicing Steroid 21-Hydroxylase - genetics Steroid 21-hydroxylase deficiency
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