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PubMed2005

[Diversity of paternity index with different allele frequencies].

OBJECTIVE: To evaluate the diversity of combined paternity index (CPI) of multiple STR loci when different population allele frequencies was used to calculate the paternity index. METHODS: CPI of 13 CODIS (combined DNA index system) loci for 108 trio cases and 108 duo cases selected randomly were calculated by using five Chinese Han population allele frequencies, respectively. RESULTS: The CPI range for trio cases and duo cases were 2077.63-50897711626.46 and 25.12-2998685141, respectively. When different population allele frequencies were applied to the same case, the ratio of maximum CPI and minimum CPI, which was more than 100, for trio cases and duo cases were 20 cases (19.52%) and 13 cases (12.04%), respectively. CONCLUSION: The variation of CPI value of the CODIS loci was obvious with different allele frequencies. To prevent the error causing by uncertain allele frequencies, a conservative CPI value should be calculated in paternity testing.

Alleles↗
PubMed2005

Identification of family relationships by epigenetic traits.

In analyzing family burials, it is often necessary to establish the nature of the family relationship. This study examines 18 skulls from the 14th and 15th century, presumptively assigned to the family of the Counts of Celje from the territory of present-day Slovenia. Though DNA analysis is the identification method of choice, it is not always possible to apply it. In our case we were unable to isolate the genetic material and had to use classical identification methods. After determining sex and age, we established the kinship by comparison of X-ray images of paranasal cavities (frontal and maxillary sinuses, and also orbital and nasal cavities), the shape and size of which are autosomal dominant inherited characters. The comparison also extends to numerous other likewise inherited epigenetic trait similarities on the skulls. We identified all skulls, compared them with historical and genealogical data, grouped them into nuclear families--one of them is presented in this article-, and proved that they belong to the assigned family. This multidisciplinary work, based on latest epigenetic research, is highly relevant for modern non-genetic identification studies and verification of kinship by skulls collectively interred and can be applied in similar cases where isolation of DNA is no longer possible, even though the skeletal remains may not be old.

Adult↗
PubMed1991

Remarks on some rare traits of finger and palmar dermatoglyphics.

Rare dermatoglyphical patterns of fingers and palms of 26 different Hungarian population groups (males; 3207 individuals, 6414 hands) are compared with that observed in some population groups from the USSR (Buriats, Chookhchees, Kazakhs, Mansi and Komi), Khalkha-Mongolians, and Ethiopians (altogether 838 male individuals, 1676 hands). These patterns are: Radial loops on IV. and V. fingers, absence of triradius "d" on the palms, Ar,Lu and W + S on the hypothenar, Lc/Lr (Bettmann figure) and W + S on the thenar/I, and W on II., III. and IV. interdigital pads. It is pointed out that in addition to population studies these rare traits may also be used in genetic investigations (twin studies) as well as in forensic anthropology (disputed paternity).

Dermatoglyphics↗
PubMed1989

Application of immunoglobulin allotyping in forensic stain analysis: reliability and sensitivity of Gm and Km typing.

The detection of immunoglobulin alloantigens in bloodstains was studied. Commercially available allotyping reagents are suited for immunoglobulin allotyping in forensic bloodstain identification. The value and reliability of immunoglobulin allotyping in blood-stain extracts is greatly enhanced by testing for a wide scope of different allotypes. Particular reference is made to the application of a sensitive semiquantitative IgG estimation in relation to the detectability of the respective allotypes. The relative performance of the individual antigens in serum and extracts of fresh and aged bloodstains were obtained. On the basis of these results it was often possible to interpret negative reactions of the bloodstain extract in the hemagglutination-inhibition method with confidence. There is no evidence for the preferential loss of any of the alloantigens after drying and after aging of the blood.

Blood Grouping and Crossmatching↗
PubMed1977

The phosphoglucomutase group system of human erythrocytes.

Frequency of PGM1 phenotypes and their corresponding genes in the Polish population was determined in two samples: in 760 adults and 240 children. The frequency of the PGM1 1 gene in adults was 0-748, and in children 0-765. A statistically significant deficiency of heterozygotes was found in adults. Heredity of the phosphoglucomutase system was studied in 52 families with 162 children, in 223 mother-child pairs, and in 73 twin pairs of the same sex. In all groups, phenotypes of PGM1 agreed with the hypothesis of heredity, assuming a pair of alleles of the PGM1 system. In the parent combinations PGM1 1-1 X PGM1 2-1 a deficiency of PGM1 2-1 children was found. Analysis of linkage of genes of the PGM1 system with eight group systems provided data indicating a possibility of linkage of the PGM1 system with the Rh system. The theoretical usefulness of the PGM1 system in paternity investigations in the Polish population was estimated to be 14-24%.

Adult↗
PubMed1995

Fixed bin population data for the VNTR loci D1S7, D2S44, D4S139, D5S110, and D17S79 in Chinese from Taiwan.

Fixed bin frequencies for the VNTR loci D1S7, D2S44, D4S139, D5S110, and D17S79 were determined in a Chinese sample population. The data were generated by RFLP analysis of Hae III-digested genomic DNA and chemiluminescence detection. The five VNTR loci meet Hardy-Weinberg expectations in the Chinese sample population, and there is little 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 Chinese.

Asian People↗
PubMed1995

DNA analysis of dental pulp to link incinerated remains of homicide victim to crime scene.

Teeth endure postmortem degradation and extreme changes in ambient temperature and pressure better than most human tissues. This ability to resist deterioration allows the teeth to be studied as a method of establishing the identity of a decedent. Additionally, dental hard tissues, and in some instances soft tissues, may provide investigators with other sources of forensic data. In this case, a female homicide victim was transported to a location where her remains were burned. The high temperatures of a gasoline fire effectively incinerated the body precluding deoxyribonucleic acid (DNA) analysis from conventional sites. However, most of the teeth survived the conflagration. They were used to identify the victim. Additionally, the dental pulps were found to be an excellent source of high molecular weight genomic DNA. This proved to be an effective method to link the victim's body to biological evidence recovered from the site of the murder.

Adult↗
PubMed1995

D1S80 population data in African Americans, Caucasians, southeastern Hispanics, southwestern Hispanics, and Orientals.

Allele frequencies for the locus D1S80 were determined in African American, Caucasian, Southeastern Hispanic, Southwestern Hispanic, and Oriental sample populations using the polymerase chain reaction and subsequent electrophoresis and silver staining of the amplified products. Due to the presence of anodal and cathodal electrophoretic variants (in reference to the steps in an allelic ladder), allele frequencies were established using a classification protocol based on the steps in the allelic ladder. All sample populations met Hardy-Weinberg expectations for D1S80. In addition, there was no evidence for association of alleles between the loci D1S80 and D1S7. The product of allele frequencies from the data from the sample populations in this study can be used in forensic analyses and paternity tests to estimate the frequency of a D1S80 DNA genotype.

Alleles↗
PubMed1995

Validation and population studies of the loci LDLR, GYPA, HBGG, D7S8, and Gc (PM loci), and HLA-DQ alpha using a multiplex amplification and typing procedure.

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-DQ alpha) 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.

Alleles↗
PubMed1994

Evaluation of 13 short tandem repeat loci for use in personal identification applications.

Personal identification by using DNA typing methodologies has been an issue in the popular and scientific press for several years. We present a PCR-based DNA-typing method using 13 unlinked short tandem repeat (STR) loci. Validation of the loci and methodology has been performed to meet standards set by the forensic community and the accrediting organization for parentage testing. Extensive statistical analysis has addressed the issues surrounding the presentation of "match" statistics. We have found STR loci to provide a rapid, sensitive, and reliable method of DNA typing for parentage testing, forensic identification, and medical diagnostics. Valid statistical analysis is generally simpler than similar analysis of RFLP-VNTR results and provides powerful statistical evidence of the low frequency of random multilocus genotype matching.

Alleles↗
PubMed1994

Nondetectability of restriction fragments and independence of DNA fragment sizes within and between loci in RFLP typing of DNA.

We provide experimental evidence showing that, during the restriction-enzyme digestion of DNA samples, some of the HaeIII-digested DNA fragments are small enough to prevent their reliable sizing on a Southern gel. As a result of such nondetectability of DNA fragments, individuals who show a single-band DNA profile at a VNTR locus may not necessarily be true homozygotes. In a population database, when the presence of such nondetectable alleles is ignored, we show that a pseudodependence of alleles within as well as across loci may occur. Using a known statistical method, under the hypothesis of independence of alleles within loci, we derive an efficient estimate of null allele frequency, which may be subsequently used for testing allelic independence within and across loci. The estimates of null allele frequencies, thus derived, are shown to agree with direct experimental data on the frequencies of HaeIII-null alleles. Incorporation of null alleles into the analysis of the forensic VNTR database suggests that the assumptions of allelic independence within and between loci are appropriate. In contrast, a failure to incorporate the occurrence of null alleles would provide a wrong inference regarding the independence of alleles within and between loci.

Alleles↗
PubMedDate not supplied

[Applications of polymerase chain reaction in identifying the D1S80 (pMCT 118) locus in forensic DNA analysis].

The value of the amplified fragment length polymorphism at the D1S80 locus was examples by means of examples of forensic casework (paternity and identification cases). Parameters, like PCR conditions, limit of detection and analysis of mixed samples are discussed. In a population study the allele and genotype frequencies of 154 individuals from the area of Bonn were determined. The distribution of genotypes was in agreement with expected values according to the Hardy-Weinberg equilibrium. There was no deviation from other published Middle European studies.

Alleles↗
PubMed1993

Violations of the ceiling principle: exact conditions and statistical evidence.

The National Research Council recommended the use of the ceiling principle in forensic applications of DNA testing on the grounds that the ceiling principle was believed to be "conservative," giving estimates greater than or equal to the actual genotype frequencies in the appropriate reference population. We show here that the ceiling principle can fail to be conservative in a population with two subpopulations and two loci, each with two alleles at Hardy-Weinberg equilibrium, if there is some linkage disequilibrium between loci. We also show that the ceiling principle can fail in a population with two subpopulations and a single locus with two alleles if Hardy-Weinberg equilibrium does not hold. We give explicit analytical formulas to describe when the ceiling principle fails. By showing that the ceiling principle is not always mathematically reliable, this analysis gives users of the ceiling principle the responsibility of demonstrating that it is conservative for the particular data with which it is used. Our reanalysis of VNTR data bases of the FBI provides compelling evidence of two-locus associations within three major ethnic groups (Caucasian, black, and Hispanic) in the United States, even though the loci tested are located on different chromosomes. Before the ceiling principle is implemented, more research should be done to determine whether it may be violated in practice.

Alleles↗