Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE

B. Budowle, R. Chakraborty, A. M. Giusti, A. J. Eisenberg, R. C. Allen

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Abstract

Allelic data for the D1S80 locus was obtained by using the PCR and subsequent analysis with a high-resolution, horizontal PAGE technique and silver staining. Compared with RFLP analysis of VNTR loci by Southern blotting, the approach described in this paper offers certain advantages: (1) discrete allele resolution, (2) minimal measurement error, (3) correct genotyping of single-band VNTR patterns, (4) a nonisotopic assay, (5) a permanent record of the electrophoretic separation, and (6) reduced assay time. In a sample of 99 unrelated Caucasians, the D1S80 locus demonstrated a heterozygosity of 80.8% with 37 phenotypes and 16 alleles. The distribution of genotypes is in agreement with expected values according to the Hardy-Weinberg equilibrium. Furthermore, the observed number of alleles and the level of heterozygosity, obtained through the protocol described here, were congruent with each other in accordance with the expectation of a mutation-drift equilibrium model for a single, homogeneous, random-mating population. Therefore, the analysis of D1S80 and similar VNTR loci by amplified fragment length polymorphism (AMP-FLP) may prove useful as models for population genetic issues for VNTR loci analyzed by RFLP typing via Southern blotting.

Original languageEnglish
Pages (from-to)137-144
Number of pages8
JournalAmerican Journal of Human Genetics
Volume48
Issue number1
StatePublished - 4 Feb 1991

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    Budowle, B., Chakraborty, R., Giusti, A. M., Eisenberg, A. J., & Allen, R. C. (1991). Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE. American Journal of Human Genetics, 48(1), 137-144.