Journal ArticleDOI
Validation and Population Studies of the Loci LDLR, GYPA, HBGG, D7S8, and Gc (PM loci), and HLA-DQα Using a Multiplex Amplification and Typing Procedure
Bruce Budowle,Jenifer A. Lindsey,Jacqueline A. DeCou,Barbara W. Koons,Alan M. Giusti,Catherine T. Comey +5 more
TLDR
The data demonstrate that DNA exposed to a variety of environmental insults yields reliable PM typing results and can be used in forensic analyses and paternity tests to estimate the frequency of a multiple locus DNA profile in various general United States populations.Abstract:
Studies were performed to evaluate the forensic applicability of multiplex amplification of the loci low density lipoprotein receptor, glycophorin A, hemoglobin G gammaglobin, D7S8, and group-specific component (PM loci) and simultaneous typing of these loci using a reverse dot blot approach where allele specific oligonucleotide probes are immobilized on a nylon membrane strip. These results were obtained by using the AmpliType® PM PCR Amplification and Typing Kit. The experiments included: mixed body fluid studies; chemical contaminant effects on the DNA in body fluid samples; the effect of typing DNA from body fluid samples deposited on various substrates; the effect of microorganism contamination on typing DNA derived from blood and semen; the effect of sunlight and storage conditions on DNA typing; determination of the sensitivity of detection of the PM test kit; determination of cross-reactivity of DNA from species other than human; typing DNA derived from various tissues from an individual; and an evaluation of the hybridization temperature of the assay. The data demonstrate that DNA exposed to a variety of environmental insults yields reliable PM typing results. Allele and genotype frequencies for six loci (PM loci and HLA-DQα) were determined in African Americans, Caucasians, southeastern Hispanics, and southwestern Hispanics. All loci meet Hardy-Weinberg expectations and there is little evidence for association of alleles between the loci. The frequency data can be used in forensic analyses and paternity tests to estimate the frequency of a multiple locus DNA profile in various general United States populations.read more
Citations
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Journal ArticleDOI
Forensics and Mitochondrial DNA: Applications, Debates, and Foundations*
TL;DR: To evaluate results obtained by sequencing the two hypervariable regions of the control region of the human mtDNA genome, one must consider the genetically related issues of nomenclature, reference population databases, heteroplasmy, paternal leakage, recombination, and, of course, interpretation of results.
Journal ArticleDOI
Validation of short tandem repeats (STRs) for forensic usage: performance testing of fluorescent multiplex STR systems and analysis of authentic and simulated forensic samples.
Tamyra R. Moretti,Anne L. Baumstark,Debra A. Defenbaugh,Kathleen M. Keys,Jill B. Smerick,Bruce Budowle +5 more
TL;DR: The data demonstrate that the commercially available multiplex kits can be used to amplify and type STR loci successfully from DNA derived from human biological specimens.
Journal ArticleDOI
Forensically relevant SNP classes.
Bruce Budowle,Angela van Daal +1 more
TL;DR: The SNP markers will serve an important role in analyzing challenging forensic samples, such as those that are very degraded, for augmenting the power of kinship analyses and family reconstructions for missing persons and unidentified human remains, and for providing investigative lead value in some cases without a suspect.
Patent
Multiplex amplification of short tandem repeat loci
TL;DR: In this paper, materials and methods for the simultaneous amplification of at least thirteen short tandem repeat loci, including specific materials and method for the analysis of thirteen such loci specifically selected by the United States Federal Bureau of Investigation as core loci for use in the Combined DNA Index System (CODIS) database.
Journal ArticleDOI
COBAS AMPLICOR: fully automated RNA and DNA amplification and detection system for routine diagnostic PCR.
TL;DR: The initial COBAS AMPLICOR menu includes qualitative tests for diagnosing infections with Chlamydia trachomatis, Neisseria gonorrhoeae, Mycobacterium tuberculosis, and hepatitis C virus and all tests include an optional Internal Control to provide assurance that specimens are successfully amplified and detected.
References
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Journal ArticleDOI
Estimation of average heterozygosity and genetic distance from a small number of individuals
TL;DR: It is shown that the number of individuals to be used for estimating average heterozygosity can be very small if a large number of loci are studied and the average heter homozygosity is low.
Journal ArticleDOI
Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.
Randall Keichi Saiki,Stephen J. Scharf,Fred A. Faloona,Kary B. Mullis,Glenn Thomas Horn,Henry A. Erlich,Norman Arnheim +6 more
TL;DR: Two new methods were used to establish a rapid and highly sensitive prenatal diagnostic test for sickle cell anemia, using primer-mediated enzymatic amplification of specific beta-globin target sequences in genomic DNA, resulting in the exponential increase of target DNA copies.
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Performing the exact test of Hardy-Weinberg proportion for multiple alleles.
TL;DR: In this paper, the significance level for a test of Hardy-Weinberg proportions (HWP) is estimated for loci with more than a few alleles, and two algorithms are proposed.
Journal ArticleDOI
Sampling variances of heterozygosity and genetic distance
Masatoshi Nei,A. K. Roychoudhury +1 more
TL;DR: The utility of the inter-locus variance of heterozygosity for studying the mechanism of maintenance of genetic variability in populations is indicated and mathematical formulae for the sampling variances are developed.
Journal ArticleDOI
Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus
TL;DR: This work has studied the allelic diversity at the HLA-DQA locus and its association with the serologically defined Hla-DR and -DQ types and revealed eight alleles and three additional haplotypes.