Rare variants, private polymorphisms, and locus heterozygosity in Amerindian populations. 1978

J V Neel

The results of 21,103 electrophoretic typings distributed across 28 polypeptides in members of 12 Amerindian tribes are reported, and the accumulated results of electrophoretic studies on these same polypeptides in 21 Amerindian tribes are then analyzed. Thus far 11 'private' polymorphisms have been identified in these tribes. When the tribal samples are combined and traits achieving polymorphic proportions in the total sample excluded from consideration, the average frequency of rare variants is 2.8 per 1,000 determinations. For a subset of 23 of these polypeptides also studied in Caucasians and Japanese, variant frequencies per 1,000 determinations are: Indians, 2.2; Caucasians (British), 1.6; and Japanese, 1.5. Average locus heterogeneity for these polypeptides (based on rare variants plus polymorphisms) is: Indians, .049; Caucasians, .078; and Japanese, .077. A higher proportion of loci are monomorphic within tribes than within civilized urban populations. It is argued that for inferences concerning the forces maintaining genetic variability within populations, studies on samples from tribespeople are much more appropriate than studies on samples from civilized urban populations.

UI MeSH Term Description Entries
D007199 Indians, South American Members of indigenous South American populations with pre-colonial contact origins. Amerinds, South American,Indigenous South Americans,American Amerind, South,American Indian, South,American, Indigenous South,Americans, Indigenous South,Amerind, South American,Indian, South American,Indigenous South American,South American Amerind,South American Amerinds,South American Indian,South American Indians,South American, Indigenous,South Americans, Indigenous
D008297 Male Males
D011110 Polymorphism, Genetic The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. Gene Polymorphism,Genetic Polymorphism,Polymorphism (Genetics),Genetic Polymorphisms,Gene Polymorphisms,Polymorphism, Gene,Polymorphisms (Genetics),Polymorphisms, Gene,Polymorphisms, Genetic
D001798 Blood Proteins Proteins that are present in blood serum, including SERUM ALBUMIN; BLOOD COAGULATION FACTORS; and many other types of proteins. Blood Protein,Plasma Protein,Plasma Proteins,Serum Protein,Serum Proteins,Protein, Blood,Protein, Plasma,Protein, Serum,Proteins, Blood,Proteins, Plasma,Proteins, Serum
D004798 Enzymes Biological molecules that possess catalytic activity. They may occur naturally or be synthetically created. Enzymes are usually proteins, however CATALYTIC RNA and CATALYTIC DNA molecules have also been identified. Biocatalyst,Enzyme,Biocatalysts
D004912 Erythrocytes Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN. Blood Cells, Red,Blood Corpuscles, Red,Red Blood Cells,Red Blood Corpuscles,Blood Cell, Red,Blood Corpuscle, Red,Erythrocyte,Red Blood Cell,Red Blood Corpuscle
D005260 Female Females
D005828 Genetics, Population The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES. Population Genetics
D006580 Genetic Carrier Screening Identification of individuals who are heterozygous at a GENETIC LOCUS for a recessive PHENOTYPE. Carriers, Genetic, Detection,Genetic Carriers, Detection,Heterozygote Detection,Carrier Detection, Genetic,Detection, Genetic Carrier,Genetic Carrier Detection,Heterozygote Screening,Carrier Screening, Genetic,Detection, Heterozygote,Screening, Genetic Carrier,Screening, Heterozygote,Screenings, Genetic Carrier
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
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