Michael Waterman
Faculty Member
Last active: 2/12/2015

Canadian Mennonites and individuals residing in the Friesland region of The Netherlands share the same molecular basis of 17 alpha-hydroxylase deficiency.

Imai T, Yanase T, Waterman MR, Simpson ER, Pratt JJ
Hum Genet. 1992 89 (1): 95-6

PMID: 1577471 · DOI:10.1007/bf00207050

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.

MeSH Terms (12)

Adrenal Hyperplasia, Congenital Base Sequence Canada Female Humans Male Molecular Sequence Data Mutation Netherlands Polymerase Chain Reaction Repetitive Sequences, Nucleic Acid Steroid 17-alpha-Hydroxylase

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