title: Canadian Mennonites and individuals residing in the Friesland region of The Netherlands share the same molecular basis of 17 alpha-hydroxylase deficiency.
abstract: A common mutation within the CYP17 gene that causes 17 alpha-hydroxylase deficiency, a form of congenital adrenal hyperplasia, has been found by direct sequencing of polymerase chain reaction (PCR) fragments of genomic DNA from six families residing in the Friesland region of the Netherlands. The mutation is a 4-base duplication within exon 8 of the CYP17 gene, which alters the reading frame encoding the C-terminal 26 amino acids of cytochrome P45017 alpha. This mutation has previously been found in two Canadian patients who are members of ostensibly unrelated Mennonite families. The Mennonite Churches derive their name from Menno Simons, an early leader of the sect in Friesland. Presumably this 4-base duplication appeared within the Friesian population prior to emigration of the Mennonites from the Netherlands.
authors.affiliation: Department of Biochemistry, Cecil H. and Ida Green Center for Reproductive Biology Sciences, University of Texas Southwestern Medical Center, Dallas 75235.
authors.forename: T
authors.initials: T
authors.lastname: Imai
authors.forename: T
authors.initials: T
authors.lastname: Yanase
authors.forename: M R
authors.initials: MR
authors.lastname: Waterman
authors.forename: E R
authors.initials: ER
authors.lastname: Simpson
authors.forename: J J
authors.initials: JJ
authors.lastname: Pratt
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology* / Q000235:genetics; D001483:Base Sequence; D002170:Canada; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009426:Netherlands; D016133:Polymerase Chain Reaction; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics
chemical_list: D013254:Steroid 17-alpha-Hydroxylase