Estimation of Heterozygosity for Single-Probe Multilocus DNA Fingerprints

Authors

• J. Claiborne Stephens, National Cancer Institute at Frederick
• Dennis Gilbert, National Cancer Institute at Frederick
• Naoya Yuhki, National Cancer Institute at Frederick
• Stephen J. O'Brien, National Cancer Institute at FrederickFollow

ORCID

0000-0001-7353-8301

ResearcherID

N-1726-2015

Document Type

Article

Publication Title

Molecular Biology and Evolution

ISSN

0737-4038

Publication Date

7-1992

Keywords

Hypervariable minisatellites, Genetic relatedness, Polymorphism, Gene diversity, Population genetics

Abstract

In spite of the increasing application of DNA fingerprinting to natural populations and to the genetic identification of humans, explicit methods for estimation of basic population genetic parameters from DNA fingerprinting data have not been developed. Contributing to this omission is the inability to determine, for multilocus fingerprinting probes, relatively important genetic information, such as the number of loci, the number of alleles, and the distribution of these alleles into specific loci. One of the most useful genetic parameters that could be derived from such data would be the average heterozygosity, which has traditionally been employed to measure the level of genetic variation within populations and to compare genetic variation among different loci. We derive here explicit formulas for both the estimation of average heterozygosity at multiple hypervariable loci and a maximum value for this estimate. These estimates are based upon the DNA restriction-pattern matrices that are typical for fingerprinting studies of humans and natural populations. For several empirical data sets from our laboratory, estimates of average and maximal heterozygosity are shown to be relatively close to each other. Furthermore, variances of these statistics based on simulation studies are relatively small. These observations, as well as consideration of the effect of missing alleles and alternate numbers of loci, suggest that the average heterozygosity can be accurately estimated using phenotypic DNA fingerprint patterns, because this parameter is relatively insensitive to the lack of certain genetic information.

Volume

9

Issue

4

First Page

729

Last Page

743

Comments

©1992 by The University of Chicago.

Additional Comments

Department of Health and Human Services contract #: N01-CO-74102

NSUWorks Citation

Stephens, J. Claiborne; Dennis Gilbert; Naoya Yuhki; and Stephen J. O'Brien. 1992. "Estimation of Heterozygosity for Single-Probe Multilocus DNA Fingerprints." Molecular Biology and Evolution 9, (4): 729-743. https://nsuworks.nova.edu/cnso_bio_facarticles/291