Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups

doi:10.1016/0888-7543(92)90371-X

Genomics

Volume 12, Issue 2, February 1992, Pages 241-253

https://doi.org/10.1016/0888-7543(92)90371-X Get rights and content

Abstract

Trimeric and tetrameric short tandem repeats (STRs) represent a rich source of highly polymorphic markers in the human genome that may be studied with the polymerase chain reaction (PCR). We report the analysis of a multilocus genotype survey of 97–380 chromosomes in U.S. Black, White, Mexican-American, and Asian populations at five STR loci located on chromosomes 1, 4, 11, and X. The heterozygote frequencies of the loci ranged from 0.36 to 0.91 and the number of alleles from 6 to 20 for the 20 population and locus combinations. Relative allele frequencies exhibited differences between populations and unimodal, bimodal, and complex distributions. Although deviations were noted at some locus-population test combinations, genotype data from the loci were consistent overall with Hardy-Weinberg equilibrium by three tests. Population subheterogeneity within each ethnic group was not detected by two additional tests. No mutations were detected in a total of 860 meioses for two loci studied in the CEPH kindreds and five loci studied in other families. An indirect estimate of the mutation rates gave values from 2.3 × 10⁻⁵ to 15.9 × 10⁻⁵ for the five loci. Higher mutation rates appear to be associated with greater numbers of tandem repeats in the core motif. The most frequent genotype for all five loci combined appears to have a frequency of 7.59 × 10⁻⁴. Together, these results suggest that trimeric and tetrameric STR loci are useful markers for the study of new mutations and genetic linkage analysis and for application to personal identification in the medical and forensic sciences.

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Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups

Abstract

Genomics

Theor. Popul. Biol

Genomics

Genomics

Theor. Popul. Biol

Cell

Genomics

Genomics

Genomics

Intrinsic polymorphism of variable number tandem repeat loci in the human genome

Nucleic Acids Res

The highly polymorphic region near the insulin gene is composed of simple tandemly repeating sequences

Nature

Rapid typing of tandemly repeated hypervariable loci by the polymerase chain reaction: application to the apolipoprotein B 3′ hypervariable region

Multilocus structure of natural populations of Hordeum spontaneum

Genetics

Fixed BIN analysis for statistical evaluation of continuous distributions of allelic data from VNTR loci for use in forensic comparisons

Am. J. Hum. Genet

The distribution of the number of heterozygous loci in an individual in natural populations

Genetics

Detection of nonrandom association of alleles from the distribution of the number of heterozygous loic in a sample

Genetics

Mitochondrial DNA polymorphism reveals hidden heterogeneity within some Asian populations

Am. J. Hum. Genet

Generalized occupancy problem and its application in population genetics

Genetic profile of cosmopolitan populations: Effects of hidden subdivision

Anthrop. Anz

Description and validation of a method for simultaneous estimation of effective population size and mutation rate from human population data

Heterozygote deficiency, population substructure and their implications in DNA fingerprinting

Hum. Genet

Population amalgamation and genetic variation: Observations on artificially agglomerated tribal populations of Central and South America

Am. J. Hum. Genet

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

Nucleic Acids Res

Novel non-templated nucleotide addition reactions catalyzed by procaryotic and eucryotic DNA polymerases

Nucleic Acids Res

Repetitive deoxyribonucleic acid (DNA) and human genome variation: A concise review relevant to forensic biology

J. Forensic Sci

No excess of homozygosity at loci used for DNA fingerprinting

Science

Parental origin of mutations of the retinoblastoma gene

Nature

The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome