title: Frequency and distribution of rare electrophoretic mobility variants in a population of human newborns in Ann Arbor, Michigan.
abstract: We have summarized the frequency and distribution of the rare variants encountered during the screening of 258,815 allele products, the products of 51 different loci, in 3242 predominantly Caucasian (88%) newborns. Seventy-nine different rare variants, representing 187 occurrences, were identified. Almost 60% (46 of 79) of the rare variants occurred as singletons while another 20% were seen in two unrelated individuals. No rare variants were detected at 18 loci while no variants, either rare or polymorphic, were detected at 14 loci. More rare variants were identified at loci that were classified as polymorphic and also at loci where the gene products exist as a monomer. A positive relationship was observed between variant frequency, either classes or copies, and subunit molecular mass.
authors.affiliation: Department of Human Genetics, University of Michigan Medical School, Ann Arbor 48109.
authors.forename: H W
authors.initials: HW
authors.lastname: Mohrenweiser
authors.forename: K H
authors.initials: KH
authors.lastname: Wurzinger
authors.forename: J V
authors.initials: JV
authors.lastname: Neel
mesh_terms: D000483:Alleles; D004798:Enzymes / Q000235:genetics; D005787:Gene Frequency; D014644:Genetic Variation; D005828:Genetics, Population; D006801:Humans; D007231:Infant, Newborn; D008824:Michigan; D011110:Polymorphism, Genetic
chemical_list: D004798:Enzymes