GENETICS OF PROPIONIC ACIDEMIA IN A MENNONITE-AMISH KINDRED

  • 1 January 1980
    • journal article
    • research article
    • Vol. 32  (2) , 236-245
Abstract
A large Mennonite kindred had propionic acidemia (complementation group pcc C propionyl coenzyme A carboxylase deficiency) in at least 4 different sibships. Even within this kindred and this complementation group (where etiology may be assumed to be identical), there is a wide range of symptoms exhibited by homozygous pcc C-deficient individuals. The inbreeding coefficients (f) for the affected sibships ranged from 4.776 .times. 10-3 to 2.003 .times. 10-2. Single-locus autosomal recessive inheritance is suggested. All 8 parents of the 4 affected sibships had 3 couples of ancestors in common, 9-11 generations ago. Relative likelihoods for a member of each of those couples to have been the early carrier of the defective allele were calculated at 1539, 278 and 1. Thus, one couple was designated the most likely earliest-known transmitter of the pcc-deficient allele.