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Biomedical subjects

B Budowle

Publications and source records attributed to B Budowle.

At least 109 records · Page 6Linked to original sources
PubMed1997

United Arab Emirates population data on three DNA tetrameric short tandem repeat loci: HUMTHO1, TPOX and CSF1PO--derived using multiplex polymerase chain reaction and manual typing.

Allele and genotype frequencies for three tetrameric short tandem repeat (STR) loci: HUMTHO1, TPOX, and CSFIPO, were determined in a United Arab Emirates (UAE) national population sample (n = 119). The loci were amplified simultaneously and the PCR products were separated in polyacrylamide DNA sequencing gels. Detection of the DNA fragments was accomplished using silver staining. Allele designations were determined by comparison to an allelic ladder. One allele at each locus was sequenced to confirm the nature of the repeats and their number. Alleles at the HUMTHO1 and TPOX loci were distributed bimodally, while CSF1PO showed unimodal distribution. The observed heterozygosities were 76% for HUMTHO1, 64% for TPOX, and 71% for CSF1PO. No deviation from the Hardy-Weinberg expectations was observed in the genotype distribution for the loci TPOX and CSF1PO, but the HUMTHO1 locus did depart from HWE based on the likelihood ratio and the exact test. No correlation was detected between the alleles at any of the three pairs of loci. The allelic frequency data of these three loci in the UAE population sample can thus be used in human identity testing.

DNA↗
PubMed1997

Microvariation at the human D1S80 locus.

The minisatellite locus D1S80, (location: 1p35-p36) GenBank sequence accession # D28507), is a variable number of tandem repeat (VNTR) locus with a 16 base pair repeat size. The sequence of the predominant core repeat region and variants of the D1S80 locus were determined to ascertain whether sequence variation or size variation is the cause of altered migration of some D1S80 alleles. A total of 23 alleles from 14 individuals, previously typed based on the number of repeats (i.e. nominal alleles) for the D1S80 locus, were selected for sequence analysis. The individuals were from African American, Caucasian, and Hispanic databases. From these, 18 different repeat unit sequences were observed and arbitrarily designated A-R. Structural relationships between the alleles became more apparent when the arrays of repeat units were divided into common motifs or super-repeat domains. Six motifs ranging from 3 to 9 repeat units were identified. Several of the alleles included repeat arrays which were too diverse to predict an evolutionary relationship, however, there are two general repeat motif arrays and each has some relationship with either the 18 or the 24 repeat allele. The D1S80 allelic polymorphism is primarily due to variation in the number of repeat units and to sequence variation among repeats, however, it can not be ruled out that some rare alleles may be due to insertions or deletions.

Alleles↗
PubMed1997

A family exhibiting heteroplasmy in the human mitochondrial DNA control region reveals both somatic mosaicism and pronounced segregation of mitotypes.

A family exhibiting heteroplasmy at position 16355 in hypervariable region I of the human mtDNA control region has been identified. This family consists of a mother, daughter, and son. DNA samples extracted from blood stains, buccal swabs, and hairs from these individuals were amplified by PCR and sequenced utilizing fluoresence-labeled dye terminator chemistry in an automated DNA sequencer. In both the daughter and mother, heteroplasmy was observed in DNA extracted from blood stains, buccal swabs, and hairs. In the blood stains, the proportion of cytosine was greater than thymine in both individuals. Buccal swab extracts showed a more balanced contribution from the two nucleotides. Telogenic hair root and hair shaft samples exhibited a wide range of nucleotide contributions at this position, from predominately cytosine in some samples to predominately thymine in others. The apparent stochastic segregation of mitotypes in hair samples is discussed from a forensic viewpoint, and the mechanism of mtDNA heteroplasmy is considered.

DNA, Mitochondrial↗
PubMed1997

Genetic variations at four tetrameric tandem repeat loci in Korean population.

Allele and genotype frequencies for four tetrameric short tandem repeat (STR) loci, HumFES/FPS, HumFOLP23, HumGABRB15, and HumCYAR04, have been determined by polymerase chain reaction (PCR) amplification and subsequent polyacrylamide gel electrophoresis from approximately 200 genetically unrelated Koreans. This method allows a single base pair resolution and rapid typing with silver staining. The allele and genotype distributions satisfy Hardy-Weinberg expectation. Also, these STR loci have proven to be useful for forensic analyses and paternity tests in which the variable number of tandem repeat (VNTR) loci have some limitations.

Alleles↗
PubMed1997

Evaluation of independence assumptions for PCR-based and protein-based genetic markers in New Jersey Caucasians.

Allele frequencies for six PCR-based loci and three protein-based (i.e., enzyme systems) loci were determined in a Caucasian sample population from New Jersey. The loci are LDLR, GYPA, HBGG, D7S8, Gc, HLA-DQA1, PGM1, ESD, and EAP. All loci meet Hardy-Weinberg expectations. In addition, there is little evidence for association of alleles among the nine loci. The allelic frequency data generally are similar to another Caucasian population database.

Alleles↗
PubMed1997

Distribution of types for six PCR-based loci; LDLR, GYPA, HBGG, D7S8, GC and HLA-DQA1 in central Pyrenees and Teruel (Spain).

The PCR-based DNA loci LDLR, GYPA, HBGG, D7S8, GC and HLA DQA1 are widely used in forensic casework analyses. Population data on the distribution of allele frequencies are desired to estimate the rarity of a DNA profile. We studied the allele distributions at these forensically important DNA markers in two Spanish populations (Central Pyrenees and Teruel). Results were in agreement with Hardy-Weinberg expectations. Furthermore, there was little evidence for departures from expectation of independence between loci within the two sample populations. Tests for homogeneity were carried out between the two Spanish populations and a U.S. Caucasian population.

Alleles↗
PubMed1997

Validation studies of the CTT STR multiplex system.

Studies were performed to define the typing conditions and evaluate the forensic applicability of multiplex amplification of three STR loci, CSF1PO, TPOX, and THO1. Results were obtained using the GenePrint STR System (Promega Corporation, Madison, WI) Kit. To determine the utility of the GenePrint STR System for forensic casework analyses, the following experiments were conducted: 1) analysis of mixed body fluid; 2) determination of the sensitivity of detection; and 3) evaluation of results from biological samples from casework. In addition, the following simulated forensic conditions were assayed to detect whether or not there may be adverse effects on the ability to type these loci: 1) chemical contaminant effects on the DNA in body fluid samples; 2) the effects on DNA from samples deposited on various substrates; 3) the consequences of micro-organism contamination; and 4) the effect of sunlight and storage conditions on the integrity of the STR profiles/DNA. The data demonstrate that STR typing of biological samples exposed to a variety of environmental insults yields reliable results and that the analysis of the STR loci CSF1PO, TPOX, and THO1 can be applied in a forensic setting.

Alleles↗
PubMed1997

United States population data on the multiplex short tandem repeat loci--HUMTHO1, TPOX, and CSF1PO--and the variable number tandem repeat locus D1S80.

Allele frequencies for three tetrameric short tandem repeat (STR) loci HUMTHO1, TPOX, and CSF1PO and a variable number tandem repeat locus D1S80 were determined in United States Caucasian, African American, and Hispanic sample populations. All loci, except the TPOX locus in the Caucasian sample population, meet Hardy-Weinberg expectations. There is no evidence for association of alleles among the four loci. The allelic frequency data are similar to other comparable data within the same major population group.

Black People↗
PubMed1997

Distribution of HLA-DQ alpha and polymarker (LDLR, GC, GYPA, HBGG, and D7S8) alleles in Arab and Pakistani populations living in Abu Dhabi, United Arab Emirates.

Randomly collected blood samples from 100 Arabs and 100 Pakistanis residing in Abu Dhabi were analyzed using the HLA-DQ alpha and polymarker (LDLR, GC, GYPA, HBGG, D7S8) PCR based reverse dot blot systems. Allelic frequencies for each allele and observed heterozygosity for each locus were calculated. Departures from Hardy-Weinberg expectations (HWE) were determined using the unbiased estimate of the expected homozygote/ heterozygote frequencies, the likelihood ratio test and the exact test. No significant departures from HWE expectations were detected.

Blood Proteins↗
PubMed1997

Sequential multiplex amplification: utility in forensic casework with minimal amounts of DNA and partially degraded samples.

Since its introduction, PCR has become a widely-used, routine technique in forensic laboratories. A number of PCR protocols that were developed originally are now being replaced by more powerful approaches, particularly those based on multiplex amplification of short tandem repeat (STR) loci. One alternative from of multiplex PCR amplification, called Sequential Multiplex Amplification (SMA), was designed to amplify a single locus and then recover and reuse the remaining genomic DNA as a template for subsequent PCR. The SMA process could be repeated several times. SMA has proven to be useful in typing genomic DNA contained in stored PCR samples and analyzing samples of limited quality and/or quantity for multiple loci. The efficacy of the use of SMA for actual typing of casework samples permitted typing for a second locus 98.11% of the samples considered; 70.75% were typeable for a third locus, and 16.98% for a fourth locus.

Blood Stains↗
PubMed1997

Fixed bin population data for the VNTR loci D1S7, D2S44, D4S139, D5S110, D10S28, and D14S13 in population sample from Rio De Janeiro, Brazil.

Fixed bin frequencies for the VNTR loci D1S7, D2S44, D4S139, D5S110, D10S28, and D14S13 were determined in a Rio de Janeiro sample population. The data were generated by RFLP analysis of HaeIII-digested genomic DNA and chemiluminescent detection. The six VNTR loci meet Hardy-Weinberg expectations, and there is no evidence for association of alleles between the VNTR loci. The frequency data can be used in forensic analyses and paternity tests to estimate the frequency of a DNA profile in the general Brazilian population.

Brazil↗
PubMed1997

Austrian Caucasian population data for the quadruplex plus amelogenin: refined mutation rate for HumvWFA31/A.

Human identification of biological specimens has undergone immense change since the development of PCR typing systems for forensic casework. In contrast to RFLP and VNTRs, STRs are the method of choice when the investigated genomic DNA is present in low quantity or in degraded shape. In the current study, the X-Y homologous gene Amelogenin has been added to a widely used multiplex PCR amplification system consisting of four tetrameric STR loci (Quadruplex-HumTH01, HumvWFA31/A, HumFES/FPS, and HumF13A1). The modified Quadruplex was used to type 382 unrelated Caucasians from Western Austria. The population data meet Hardy-Weinberg and linkage equilibrium expectations, and do not show significant deviations from either US, German, and Turkish Caucasian databases. In an investigation of 382 meioses, two mutations were revealed at the HumvWFA31/A locus. Consequently, the data in this paper provide the conditions for adding Amelogenin to the Quadruplex, and suggest that when doing paternity testing, the mutation rate for the HumvWFA31/A locus must be considered.

Alleles↗
PubMed1996

Portuguese population data on the six short tandem repeat loci--CSF1PO, TPOX, THO1, D3S1358, VWA and FGA.

Allele frequencies for six tetrameric short tandem repeat (STR) loci CSF1PO, TPOX, THO1, D3S1358, VWA and FGA were determined in a Caucasian population sample from Portugal. All loci are highly polymorphic and meet Hardy-Weinberg expectations. There is little evidence for association of alleles among the six loci. The three loci D3S1358, VWA and FGA are more polymorphic and, hence, are more informative than the loci CSF1PO, TPOX, and THO1. However, all six loci would be useful for human identification applications. The STR allelic frequency data are similar to other Caucasian data.

Alleles↗
PubMed1996

HLA-DQA1 subtyping data in the Swiss population.

Allele- and genotype frequencies for the polymerase chain reaction-based DNA genetic marker HLA-DQA1 were determined previously in a Swiss sample population (n = 200). In this study we subtyped the allele 4 in the same Swiss Caucasian population sample (distinguishing the 4.1 allele from the 4.2 and 4.3 alleles) using the AmpliType PM+ DQA1 PCR Amplification and Typing Kit. No deviations from Hardy-Weinberg equilibrium could be observed. The power of discrimination (Pd) of the HLA-DQA1 locus without subtyping the 4 allele for Swiss Caucasians was 0.931, when subtyping the 4 allele the value is 0.938. The frequency data can be used in forensic analyses to estimate the frequency of a HLA-DQA1 profile in the Swiss population.

Alleles↗
PubMed1996

Northern and southern Croatian population data on seven PCR-based loci.

Northern and southern Croatian sample populations were typed at seven PCR-based loci -LDLR, GYPA, HBGG, D7S8, Gc, HLA-DQA1 and D1S80. The results show that all loci meet Hardy-Weinberg expectations and that there is little evidence for association of alleles between loci. Allelic frequency distributions at all loci, except HLA-DQA1, show no differences between the northern and southern Croatian sample populations. Moreover, the population data for Croatians are similar to U.S. Caucasians; only HLA-DQA1 for southern Croatians was statistically different compared with U.S. Caucasians. A Croatian population database(s) has been created and can be used for forensic analyses to estimate the frequency of a multiple locus DNA profile.

Alleles↗
PubMed1996

Population data on the PCR-based loci LDLR GYPA, HBGG, D7S8, Gc, HLA-DQA1, and D1S80 from Arabs from Dubai.

Population data were generated for the loci LDLR, GYPA, HBGG, D7S8, Gc, HLA-DQA1, and D1S80 from 180 Arabs from Dubai. Except for D7S8 (P = 0.003), the genotype frequency distributions for the loci do not deviate from Hardy Weinberg expectations. There was no evidence for departures from expectations of independence between the loci. Using a test for homogeneity, the loci LDLR, GYPA, D7S8, and Gc were similar between the Dubaian Arab population sample and an Arab population sample from Palestine and the occupied territories, while the loci HBGG (P = 0.003), DQA1 (P < 10(-3)), and D1S80 (P = 0.020) were statistically different.

Alleles↗
PubMed1996

DNA typing of a polymerase chain reaction amplified D1S80/amelogenin multiplex using capillary electrophoresis and a mixed entangled polymer matrix.

In this study, a technique was developed to separate by capillary electrophoresis (CE) the widely varying DNA fragment sizes produced by a multiplex polymerase chain reaction (PCR) amplification of the loci D1S80 and amelogenin. Experiments were performed to analyze different buffer systems and obtain optimal resolution for the separation. A matrix composed of two different molecular weights of the same polymer was constructed to separate the DNA fragments with baseline resolution, and a cubic spline fit was used to estimate the size of DNA fragments over 350 base pairs. Over 100 samples were examined to demonstrate the rapid, robust and precise characteristics of this CE system. An average relative standard deviation of 0.3% was obtained for the sizing of the D1S80 alleles in these samples. DNA from mixed body fluid samples, samples subjected to environmental insult, and D1S80 sequence variants were also typed successfully. These results demonstrate that CE is a viable method for analysis of D1S80 and amelogenin forensic DNA samples.

Alleles↗