Notes on individual sequence variation in humans : immunoglobulin kappa light chain

Little is known concerning the magnitude of variability in the nucleic acid sequence of DNA at the individual level. We have collected a large set of sequence data from the human immunoglobulin kappa light-chain-locus constant region (10,444 bp) and subgroup IV variable region (18,580 bp). For the c...

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Bibliographic Details
Published in:American journal of human genetics 1994-06, Vol.54 (6), p.1037-1041
Main Authors: KURTH, J. H, CAVALLI-SOFRZA, L. L
Format: Article
Language:English
Subjects:
Base Sequence
BASIC BIOLOGICAL SCIENCES
Biological and medical sciences
BIOLOGICAL VARIABILITY
Classical genetics, quantitative genetics, hybrids
DNA - analysis
DNA SEQUENCING
Exons - genetics
Fundamental and applied biological sciences. Psychology
GENES
Genes, Immunoglobulin - genetics
GENETIC VARIABILITY
Genetic Variation - genetics
Genetics of eukaryotes. Biological and molecular evolution
GLOBULINS
Human
HUMAN POPULATIONS
Humans
Immunoglobulin Constant Regions - genetics
Immunoglobulin kappa-Chains - genetics
Immunoglobulin Variable Region - genetics
IMMUNOGLOBULINS
Introns - genetics
Kappa chain
light chains
man
Molecular Sequence Data
nucleotide sequence
ORGANIC COMPOUNDS
POPULATIONS
PROTEINS
Sequence Analysis, DNA
STRUCTURAL CHEMICAL ANALYSIS 550400 > Genetics
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Summary:Little is known concerning the magnitude of variability in the nucleic acid sequence of DNA at the individual level. We have collected a large set of sequence data from the human immunoglobulin kappa light-chain-locus constant region (10,444 bp) and subgroup IV variable region (18,580 bp). For the constant region, absolute conservation of sequence was observed, even in intron and coding-region silent sites, with the exception of one previously defined polymorphic site. For the variable region, 12 heterozygous positions were identified, giving a heterozygosity of 6 x 10(-4) per nucleotide site. The amount of nucleic acid sequence variation differs significantly (chi 2 = 4.88) between these two regions, and the observed variation is two orders of magnitude lower than that reported for two Drosophila melanogaster loci. These data suggest that, for at least some regions of the human genome, nucleic acid sequence may be less variable than previously estimated.
ISSN:0002-9297
1537-6605