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Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy.

though it is unnecessary), the frequency of occurrence of a profile can be estimated by limiting the statistic to the number of individuals in the data base, at each particular locus, carrying the same profile as the evidentiary material. Since there is no evidence of linkage disequilibrium (i.e., gametic phase disequilibrium), the frequency of each observed profile at each locus could be multiplied together to estimate the occurrence of a multilocus phenotype. Using either the assumption of HWE or observed phenotypes would in actuality result in no forensically significant differences in the final estimate. Fifth, a critical discussion of Dr. Green's proposed two-allele-per-locus approach is in order. When an approach for forensic analysis is considered, it is essential to assess the ability of the system to resolve issues peculiar to forensics. During the act of violent crimes, it is common for body fluid/tissues from different contributors to mix. Use of a two-allele system would make it more difficult to resolve whether one or more individuals have contributed to the evidentiary material. For instance, an apparent heterozygote in some cases potentially could be a composite of two homozygotes (or a heterozygote and a homozygote). Obviously, the elucidation of multiple contributors can be more readily accomplished with highly polymorphic systems. In conclusion, it is hoped that this discussion has been helpful in further addressing the issues surrounding the application of population genetic principles to forensic situations. Through the discovery process, the FBI population data have been made available to many investigators; while many have chosen to present hypotheticals regarding potential population genetics concerns, Chakraborty (1991), Chakraborty et al. (in press), Chakraborty and Jin (submitted), Weir (submitted), and B. Devlin (personal communication) actually performed analyses to evaluate the effects of HWE and gametic phase disequilibrium. Both the data and theory support the conclusion that the frequencies ofVNTR profiles can be estimated as the products of the frequencies of the constituent elements. In addition, highly polymorphic loci are the most informative loci both for discriminating between individuals and for evaluating whether a biological evidentiary sample may be composed of material from one or more individuals.