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PubMed1978

[About the polymorphisms of esterase D and glyoxalase I and their forensic application (author's transl)].

Phenotypes of esterase D and glyoxalase I were determined electrophoretically in samples from Northern Germany. Gene frequencies: EsD1 = 0,889 (n = 1430), GLO1 = 0,415 (n = 865). The data of 295 (EsD) and 153 (GLO) mother/child combinations were in full accordance with the genetic model of two codominant alleles at an autosomal locus. Esterase D typing has proved successful in bloodstains up to three weeks old. The forensic scope of serological systems is discussed intensively. According to our own data and the results presented in the literature esterase D and glyoxalase I have proved to be useful additional markers for use in cases of disputed paternity.

Blood Group Antigens↗
PubMed1998

Population genetics of the D12S391, CSF1P0 and TPOX loci in Catalonia (Northeast Spain).

Allele and genotype frequencies for three short tandem repeat loci were determined in a population sample from Catalonia (NE Spain). After denaturing PAGE electrophoresis, 11 alleles were identified for D12S391 (n = 167), 9 alleles for CSF1pO (n = 282) and 6 alleles for TPOX (n = 283). No deviation from Hardy-Weinberg equilibrium was found. The allele frequencies observed are similar to those of other compared European populations.

Alleles↗
PubMed2002

[Genetic polymorphism of the STR DXS9898 locus in Han population].

OBJECTIVE: Studying the genetic polymorphism of X-STR locus DXS9898 in Han population. METHODS: 296 unrelated Chinese individuals (199 females and 97 males) living in Chengdu were investigated using PCR and PAG electrophoresis followed by silver staining. RESULTS: 6 alleles were observed and the range of fragment size was 189-214 bp. The genotype distribution of DXS9898 locus was in accordance with Hardy-Weinberg equilibrium. Family survey confirmed Mendelian inheritance of alleles. The observed heterozygosity in females was 0.5930, the discriminating power (Dp) were 0.5667 and 0.9420 for males and females respectively. The power of exclusion were 0.5862 and 0.4392 for trio and duo respectively. CONCLUSION: The results demonstrated that the locus is highly polymorphic and can be used in forensic identification and parentage testing.

Alleles↗
PubMed1987

A simplified procedure for simultaneous detection of salivary proteins and its application in paternity testing.

An alternative simplified procedure for the genetic analysis of salivary protein complex (SPC) which eliminates the need for a specific concentrated parotid sample is proposed. After the technique is applied isoelectric focusing and protein detection is carried out by silver staining. The chance of exclusion of non-fathers for these systems in our population is 0.161711 for Pr, 0.07948 for Db, 0.07836 for Pa and 0.00995 for PIF. The total exclusion rate for these systems is 0.30042.

Alleles↗
PubMedDate not supplied

Description and analysis of allele distribution for four VNTR markers in French and French Canadian populations.

Allele distributions were determined for several VNTR loci in the general French Caucasian population, a French regional population from Brittany and in three French Canadian populations, residing either in Montréal or in one of two other regions in Québec. Allele distributions are highly polymorphic in all populations sampled. Despite a well-documented genetic founder effect in one of the populations, no disequilibrium was detected over all genotypes, within and between loci, for the data bases in this study. Moreover, there were no forensically significant differences observed between estimated frequencies of 1,964 Caucasian and non-Caucasian target DNA profiles estimated in any of the groups.

Alleles↗
PubMed2003

[Genetic polymorphism and the population difference of 7 Y-STR loci and haplotypes in Chinese Han and Japanese populations].

OBJECTIVE: To investigate the genetic polymorphism of 7 Y-STR loci and haplotypes and analyze their population difference. METHODS: The DNA samples from 45 Chinese Han and 59 Japanese men were analyzed by PCR and the denatured PAGE followed by silver staining. RESULTS: 33 alleles were identified for 6 loci including DYS393, DYS389 I, DYS19, DYS390, DYS389 II and DYS392, 39 alleles were identified for DYS 385, the frequency distributions were between 0.0169-0.6444, the DP value distributions of them were between 0.5406-0.9579, the DP value of DYS 385 was the highest. With the comparison of data of the 7 loci, significant difference in genetics was observed between the two populations(P < 0.05). There were 95 haplotypes that consisted of the 7 loci, Chinese Han had 41 haplotypes, DP value 0.9960, Japanese population had 54 haplotypes, DP value 0.9965, no common haplotypes were found between them. CONCLUSION: The 7 STR loci above belong to loci of high discriminating ability, the haplotypes are highly polymorphic and their ethical character is apparent.

Asian People↗
PubMed2002

Genetic variation of the nine Profiler Plus loci in Russians.

This paper presents allele frequency distributions from a representative population sample of the Russian Federation for the nine loci (D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820) which constitute the commercially available Profiler Plus PCR amplification kit. DNA samples of 402 Russian individuals from 57 regions of the Russian Federation were amplified in a multiplex reaction with subsequent genotyping using an ABI Prism 377 DNA sequencer. The population data obtained for genotype and allele frequencies conformed to Hardy-Weinberg expectations (HWE).

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↗
PubMed2000

Population genetics of the D1S1656, D12S391, and D18S535 loci in Asturias (North Spain).

Allele and genotype frequencies for three recently described short tandem repeat loci D1S1656, D12S391, and D18S535 were determined in a population sample from Asturias (North Spain). The loci were amplified using a fluorescence based PCR method and were typed automatically. No deviation from Hardy-Weinberg expectations were observed. The three loci proved to be highly discriminating and the allele frequencies observed are similar to those of the other European populations that have been typed for these loci to date.

Alleles↗
PubMed2002

Jewish population genetic data in 20 polymorphic loci.

Frequency data of 20 polymorphisms (13 autosomal and 6 Y-chromosome STRs and the Alu-insertion YAP) were determined in a sample of 124 unrelated Jewish individuals from Ashkenazi, Sephardic, North African and Oriental origin. The a priori statistical power of the set of studied loci was highly discriminating (PD=1 in 2.393 E+15 individuals for autosomal STRs, and a probability of finding two unrelated males with the same haplotype of less than 0.01). Some significant population differences were registered between Jews and other Circummediterranean populations in Y-chromosome loci frequencies.

Forensic Medicine↗
PubMed2004

Comparative study of genetic variation at 15 STR loci in three isolated populations of the Bosnian mountain area.

Fifteen autosomal STR loci (D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, VWA, D8S1179, TPOX, and FGA) were studied in three geographically close but isolated populations from the Bosnian mountain area. The three villages are Bobovica, Dejcici, and Lukomir. DNA was obtained from 83 individuals, and the allele frequencies and genetic diversity among the three sample groups were compared. In addition, seven of the STR loci (CSF1PO, D13S317, D3S1358, D5S818, D7S820, FGA, TH01) were used in a comparative population analysis of the Bjelasnica-Treskavica region and the Adriatic islands of Brac, Hvar, and Korcula. Although the sample sizes are relatively small, the observed variation within any of the small isolated populations is high and comparable to less isolated groups. In addition, even though the populations are geographically isolated, the STR data are similar among the populations. The most significant frequency differences were observed at the TH01 locus. Although the specific allele distributions in any untyped population cannot be determined a priori, we find support for a high degree of diversity for the STR loci in most populations. In addition, the multiple locus profile is highly informative not only for various population studies but also for forensic studies, even when specific population data are not available.

Bosnia and Herzegovina↗
PubMed2004

[The study on the haplotype of MICA and MICB microsatellite locus in Guangzhou Han population].

This study is to investigate genetic polymorphisms and haplotypes of microsatellite locus in the exon 5 of the MICA gene and intron 1 of the MICB gene based on 106 samples of Guangzhou Han Population by polymerase chain reaction and fluorescent technique (6-FAM). The corresponding haplotype frequencies, linkage disequilibria values and relative linkage disequilibria values were estimated based on population data. The results show that the genotype distributions of MICA and MICB microsatellite meet Hardy-Weinberg equilibrium in Guangdong Han population. In total, 5 alleles of MICA microsatellite locus and 14 alleles of MICB microsatellite locus were observed. MICA A5 was the most common allele (0.2877), whereas A4 was the least popular one (0.1321). MICB CA14 was the most common allele (0.3255), and CA19 and CA28 were the least popular ones (0.0047). CA27 was not observed. Twenty-one kinds of MICA-MICB haplotypes occurred at frequencies of more than 1% (linkage disequilibria value>0). The common MICA-MICB haplotypes were A5-CA14 (16.73%) , A5.1- CA18 (8.75%), A4- CA26(3.76%),A9-CA15(3.66%) and A6-CA21(2.61%) (chi(2)>3.84, P<0.05) , and they were strong linkage disequilibria. The polymorphisms and haplotypes distributions of MICA and MICB microsatellite locus in Guangzhou Han population have their own genetic characteristics. The microsatellite locus of the exon5 of the MICA gene and intron 1 of the MICB gene could be used as the genetic markers in the studies of anthropology, linkage analysis of genetic disease genes, individual identification and paternity test in forensic medicine.

Asian People↗
PubMed2004

The use of different multiplex PCRs for twin zygosity determination and its application in forensic trace analysis.

STR typing becomes more and more valuable for different approaches of science. It revolutionized determining of zygosity in twin research and it is very often the only possibility for discrimination in forensic trace analysis. In this study 55 twin pairs from Denmark were genetically investigated to determine their zygosity. For analysis two multiplex PCR kits, the AmpFlSTR Identifiler kit, which comprises 15 loci plus the amelogenin gender determination and the Powerplex ES kit with eight different loci were employed. For a forensic approach every twin pair was regarded as being a forensic trace analysis, i.e. suspect or victim/biological trace and then we determined the security and precision with that a match of genetic patterns or an exclusion could be observed. Sixty percent of the twin pairs were di- and 40% monozygotic. There were no differences in zygosity determination between the two multiplex kits. The lowest number of exclusions by determining dizygosity was four loci for the Identifiler and three for Powerplex ES kit, the highest was 13 (Identifiler) and eight (Powerplex). It could be shown that the highly discriminative multiplex PCR kits gave matching probabilities of over 99.999999% (calculation based on data for unrelated individuals) even when only five or six STRs could be determined (assuming a trace analysis with some non-detectable STRs and therefore an incomplete genetic pattern). No questionable results regarding zygosity of the twin pairs were obtained even when only eight loci (using the Powerplex ES kit) were investigated. The simulated forensic results showed that matching probabilities should always be handled with care to not possibly come to wrong conclusions concerning the origin of the biological trace.

Alleles↗
PubMed1989

Detection of specific DNA sequences by fluorescence amplification: a color complementation assay.

We have developed a color complementation assay that allows rapid screening of specific genomic DNA sequences. It is based on the simultaneous amplification of two or more DNA segments with fluorescent oligonucleotide primers such that the generation of a color, or combination of colors, can be visualized and used for diagnosis. Color complementation assay obviates the need for gel electrophoresis and has been applied to the detection of a large and small gene deletion, a chromosomal translocation, an infectious agent, and a single-base substitution. DNA amplification with fluorescent oligonucleotide primers has also been used to multiplex and discriminate five different amplified DNA loci simultaneously. Each primer set is conjugated to a different dye, and the fluorescence of each dye respective to its amplified DNA locus is scored on a fluorometer. This method is valuable for DNA diagnostics of genetic, acquired, and infectious diseases, as well as in DNA forensics. It also lends itself to complete automation.

Base Sequence↗
PubMed2006

Will genetic polymorphism of tetranucleotide sequences help in the diagnostics of major psychiatric disorders?

Expecting a significant breakthrough in the diagnosis of complex disorders of neuropsychiatric background, intensive efforts are taking place to establish genetic markers correlated with these disorders. During the last decade, this research was focused on code regions connected with neurotransmission and metabolism of catecholamines. Nowadays big diagnostic expectations are associated with sequences of STR type, which are widespread throughout the genome. These microsatellite sequences do not code proteins, but may have function of regulatory elements in the process of gene transcription and expression. One of these is polymorphic TH01 locus with TCAT tetranucleotide repetitive motive. It is located in chromosomal position 11p15 in the first intron of the tyrosine hydroxylase gene (TH). We examined the existence of the association between polymorphism of TH01 marker and schizophrenia. The results of statistical comparative analysis between neuropsychiatric patients from Poland and their regionally matched healthy subjects were presented.

Case-Control Studies↗
PubMed2004

[The genetic polymorphism of 7 Y-STR loci and haplotype in Tibetan population].

OBJECTIVE: To investigate the genetic polymorphism of 7 Y-STR loci and haplotypes in Tibetan population. METHODS: The DNA samples from 67 Tibetan men were analyzed by PCR and the denatured PAGE followed by silver staining. RESULTS: 25 alleles were identified for 6 loci including DYS393, DYS389 I, DYS19, DYS390, DYS389 II and DYS392, 22 alleles were identified for DYS385, the frequency distributions were between 0.0149-0.5075, the DP value distributions were between 0.5075-0.8991, the DP value of DYS 385 was the highest. 51 haplotypes were identified for the YH6 system which consisted of the 7 loci, the DP value of this system was 0.9887, the alleles for DYS393 and DYS389 II were few, it followed that perhaps Tibetan population had met with bottleneck event in their evolution process. CONCLUSION: The 7 STR loci above belong to loci of high discriminating ability, the haplotypes are highly polymorphic.

Alleles↗
PubMed1987

C6 phenotyping in sera and bloodstains by isoelectric focusing followed by electroimmunoblotting.

The genetic polymorphism of C6 was investigated in 329 unrelated Japanese individuals using isoelectric focusing in polyacrylamide gels followed by an electroimmunoblotting technique. Besides six common phenotypes C6 A, AB, B, AB2, BB2 and B2, six rare variants were observed. The allele frequencies were: C6*A = 0.4422, C6*B = 0.4757, C6*B2 = 0.0714, C6*A3 = 0.0015, C6*M1 = 0.0046 and C6*B3 = 0.0046. The population data confirmed that the C6*B2 allele is the third common allele characterizing Japanese. The present electroimmunoblotting technique was applied to demonstrate C6 types in dried bloodstains. The C6 types were determined from bloodstains stored at 4 degrees C for up to 10 weeks, at room temperature for up to 2 weeks and at 37 degrees C for up to 4 days. The results show that this component system offers a new powerful means for the medico-legal grouping of bloodstains.

Alleles↗