{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T16:43:29Z","timestamp":1788885809050,"version":"build-2803163510"},"reference-count":50,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,6,23]],"date-time":"2003-06-23T00:00:00Z","timestamp":1056326400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2003,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The Old Order Mennonites of southeastern Pennsylvania are a religious isolate with origins in 16th\u2010century Switzerland. The Swiss Mennonites immigrated to Pennsylvania over a 50\u2010year period in the early 18th century. The history of this population in the United States provides insight into the increased incidence of several genetic diseases, most notably maple syrup urine disease (MSUD), Hirschsprung disease (HSCR), and congenital nephrotic syndrome. A comparison between the Old Order Mennonites and the Old Order Amish demonstrates the unique genetic heritage of each group despite a common religious and geographic history. Unexpectedly, several diseases in both groups demonstrate allelic and\/or locus heterogeneity. The population genetics of the 1312T\u2009\u2192\u2009A <jats:italic>BCKDHA<\/jats:italic> gene mutation, which causes classical MSUD, are presented in detail. The incidence of MSUD in the Old Order Mennonites is estimated to be 1\/358 births, yielding a corrected carrier frequency of 7.96% and a mutation allele frequency of 4.15%. Analysis of the population demonstrates that repeated cycles of sampling effects, population bottlenecks, and subsequent genetic drift were important in shaping the current allele frequencies. A linkage disequilibrium analysis of 1312T\u2009\u2192\u2009A mutation haplotypes is provided and discussed in the context of the known genealogical history of the population. Finally, data from microsatellite marker genotyping within the Old Order Mennonite population are provided that show a significant but modest decrease in genetic diversity and elevated levels of background linkage disequilibrium. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.20003","type":"journal-article","created":{"date-parts":[[2003,7,25]],"date-time":"2003-07-25T10:12:54Z","timestamp":1059127974000},"page":"18-31","source":"Crossref","is-referenced-by-count":93,"title":["Genetic heritage of the Old Order Mennonites of southeastern 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