Sequence structure and population data of the X-linked markers DXS7423 and DXS8377--clarification of conflicting statements published by two working groups.
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Chromosomes, Human, X↗
Biomedical subjects
J Edelmann
Publications and source records attributed to J Edelmann.
Comments on the paper entitled "polymorphism of nine X chromosomal STR loci in Koreans" by Jin Young Son et al. (2002) Int J Legal Med 116:317-321.
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Alleles↗
Validation of the X-chromosomal STR DXS6809.
This paper presents sequence and population genetic data of the microsatellite marker DXS6809 (GDB 365492) obtained from a German population sample ( n=725 chromosomes). DXS6809 is a highly polymorphic X-linked tetranucleotide polymorphism presenting 12 alleles in our population. Sequencing of 77 PCR products covering 12 alleles (by length), characterised DXS6809 as a marker with a complex repeat sequence structure. A polymorphism information content (PIC) of 0.825 and a mean exclusion chance (MEC) of 0.815 were obtained. A deviation from the Hardy-Weinberg equilibrium (HWE) could not be detected and male and female samples exhibited a similar allele distribution. Kinship testing revealed a typical X-linked inheritance and 2 mutations were found in 394 meioses. DXS6809 is located 90.18 Mb, i.e. 102.3 cM, from the Xp-telomere (Xp-tel), corresponding to Xq21.33. The presented data qualify DXS6809 as a useful supplement to the known forensic ChrX marker panel.
Adolescent↗
Use of X-linked markers for forensic purposes.
In forensic science, X-chromosomal short tandem repeats (ChrX STRs) bear the potential to efficiently complement the analysis of other genetic markers (autosomal, Y-chromosomal or mitochondrial). We review the population genetic properties and forensic utility of selected ChrX markers, and discuss the problems and limitations arising with their practical use. Formulae required to assess the evidential power of individual markers in different contexts are summarised and applied to ChrX STRs of interest. Since linkage and linkage disequilibrium between markers affect the inferential interpretation of genotype data, practically relevant information regarding the co-localisation and haplotypic association of ChrX STRs is provided. Finally, two examples of complex kinship testing are presented which serve to highlight the particular importance of ChrX STRs for solving deficiency cases and cases involving blood relatives.
Chromosome Mapping↗
Population genetic comparisons of three X-chromosomal STRs.
The X-chromosomal short tandem repeats (STRs) DXS6800, DXS101 and DXS8377 were analysed in male and female population samples from Germany and Austria using a PCR multiplex approach. We investigated 135 family trios from Innsbruck (Austria) and surrounding areas and 50 families and further male and female samples from Ulm (Germany) and surrounding areas. The comparisons of the allele frequencies gave similar distributions for Innsbruck and Ulm although minor variations were found for some alleles. Additionally, some differences were found when comparing the allele frequencies of the male and female samples independently. The forensic efficiency values demonstrate that especially DXS101 and DXS8377 are highly informative markers for kinship analysis and deficiency cases. Based on the investigated meiotic events no new mutations were detected.
Adolescent↗
Population data of Y-chromosomal STRs in Lithuanian, Latvian and Estonian males.
Data of nine Y-chromosomal STRs, the so called "extended core set", were obtained from 152 unrelated males from Lithuania, 145 from Latvia and 133 from Estonia. The haplotype data reported here have been included into the Y-STR database maintained at the Institute of Legal Medicine, Humboldt-University, Berlin.
Alleles↗
Population genetics of Y-chromosomal microsatellites in Baltic males.
Y-chromosomal microsatellites (STRs) are potentially useful in forensic practice but, in contrast to autosomal systems, large and diverse population databases are required in order to facilitate the statistical evaluation of donor-stain matches. Since appropriate data from the Baltic region have so far been lacking, blood samples were obtained from 430 males originating from one of the three Baltic states and these samples were genotyped using a previously described "extended core set" of nine Y-STR marker systems. Allele frequency distributions and discrimination indices were calculated, and the three populations were tested for genetic differences by means of analysis of molecular variance (AMOVA). A larger genetic difference became apparent between Estonian and both Lithuanian and Latvian males than between the latter two, non-Finno-Ugric speaking populations. The haplotype data reported here have been included into the Y-STR database maintained at the Institute of Legal Medicine, Humboldt University, Berlin.
Analysis of Variance↗
DXS101: a highly polymorphic X-linked STR.
This paper presents sequence and population genetic data for the microsatellite marker DXS101 which is a highly polymorphic X-linked trinucleotide polymorphism with 18 alleles 179-233 bp in length. A polymorphism information content (PIC) of 0.884 and a mean exclusion chance (MEC) of 0.879 were obtained by analysing a Caucasian population sample. A deviation from the Hardy-Weinberg equilibrium (HWE) could not be detected. Kinship tests revealed a typical X-linked inheritance and no mutations were found in 340 meioses. DXS101 is located 104.9-121 cM from the Xp-telomere (Xp-tel) corresponding to Xq21.33-Xq22.3. Concomitant testing of DXS101 and DXS6807 is possible as these two markers are unlinked. The data presented qualify this X-linked microsatellite marker as a useful tool for forensic purposes.
Child↗
Reference ranges for analytes in extravascular body fluids.
Interpreting analytes measured in extravascular body fluids can be problematic as the only suitable literature reference, the Geigy Scientific Tables (1), is almost 20 years old, dating back to the year 1981. It is not always possible to apply the values indicated therein to modern analytical procedures since many of these determinations were developed in the 1940es, 1950es and 1960es and measured with methods that have since lost their significance. We therefore did some extensive literature searches to compile an updated list for the most essential extravascular body fluids. The number of analytes featured in the list has been limited to the most relevant substances. A critical examination of the published data revealed that only 10-20% of the papers could actually be used because of insufficient statistical data, too small number of test subjects, or a lack of plausibility.
Bodily Secretions↗
Population genetics of ACTBP2 (SE33) in Western Saxony (Germany).
In order to apply a useful STR system we performed a population study in Western Saxony (Germany). The allele distribution was investigated in a sample of 431 unrelated adults. In addition, 170 families from routine paternity cases were examined for the presence of meiotic mutations, and two mutations were observed.
Adult↗
Is it possible to differentiate mtDNA by means of HVIII in samples that cannot be distinguished by sequencing the HVI and HVII regions?
The mitochondrial control region includes three so-called hypervariable (HV) regions, in which the polymorphic positions show a particularly high frequency. According to a population study of 200 unrelated individuals from Germany, HVI (positions 16,024-16,365, according to Anderson) showed 88 variable positions in a total length of 342 bp (26%) and HVII (positions 73-340) displayed 65 mutable sites in 268 bp (24%). HVIII (positions 438-574) exhibited a slightly lower variability, with 25 polymorphic sites within 137 bp (18%), but contrasted clearly with the background, which showed variability rates of only 7% (positions 16,366-16,569, 1-72) and 3% (positions 341-437), respectively. At present, the displacement (D)-loop database in Magdeburg comprises 904 sequences of the mitochondrial HVI region and HVII region from Germans, Austrians and Swiss. By means of this material, the extent to which the mtDNA sequences that do not differ in the HVI and HVII regions can be differentiated by additionally sequencing HVIII was investigated.
Austria↗
Mitochondrial DNA in the Central European population. Human identification with the help of the forensic mt-DNA D-loop-base database.
Sequencing of mtDNA is an advanced method for the individualisation of traces. Disadvantages of this method are expensive and time-consuming analysis and evaluation procedures as well as the necessary stock of population-genetic data which is still insufficient. Central European institutes of forensic medicine from Germany, Austria, and Switzerland have been working together since the beginning of 1998 to establish a mtDNA database. The aim is to build up a large stock of forensically established data and provide population-genetic data for frequency investigations, which will serve as a basis for expert opinions and scientific research. Good data quality is ensured by using original sequences only. Ring tests, which have been conducted to enhance analytical reliability, revealed a high correspondence rate of the analytical results obtained by the individual member institutes. Today 1410 sequences are available for comparison, of which 1285 sequences in the HV1 and HV2 regions cover the full ranges from 16051 to 16365 and from 73 to 340 (according to Anderson). The major part is formed by Central European sequences comprising 1256 data sets from Germany, Austria, and Switzerland. Today the database contains sequences from a total of 12 European, six African and three Asian countries including 100 sequences from Japan. This paper is aimed at discussing the individualisation potentials of mtDNA as well as the possibilities and limits of ethnic differentiation by means of pairwise sequence differences on the basis of the data stock available.
Austria↗
Identity testing in cervical carcinoma in case of suspected mix-up.
The histopathologic diagnosis is the cornerstone of modern oncology. But mix-ups of specimens can occur at any stage. The resection of a 1.2 cm polypoid cervical mass in a 25-year-old woman showed a poorly differentiated adenocarcinoma prospectively staged as T1b1 (International Federation of Gynecology and Obstetrics IB1). Even after complete embedding and serial sectioning of the whole cervix of the hysterectomy specimen after radical hysterectomy, only adenocarcinoma in situ, but no invasive tumor, was seen. To exclude a mix-up of the specimens, identity testing of the paraffin-embedded material was performed by microsatellite analysis. For both materials, we established identical results after testing the microsatellite loci HumTH01, HumVWA, HumFGA, HumACTBP2, HumF13B, and HumD8S1132. The resulting probability of identity came to 99.9999%, excluding a mix-up of the specimens. Archival paraffin-embedded specimens can be used to establish identity and can prevent the wrong patient from having major surgery.
Adenocarcinoma↗
Pitfalls in prenatal diagnosis of DMD due to placental mosaicism of the X-chromosomes: prenatal and postnatal findings in a fetus with a deletion of exons 67-71 of the dystrophin gene.
Prenatal diagnosis of Duchenne and Becker muscular dystrophy (DMD) is performed as a routine procedure in many laboratories. The major potential problem is an incorrect diagnosis that could be obtained due to contamination with maternal tissue. We report a case of mosaicism of the X-chromosomes confined to the placenta as a possible source of confusing results in prenatal diagnosis of DMD. To the best of our knowledge, this is the first reported case of this problem in a prenatal DMD diagnosis.
Abortion, Induced↗
Validation of the HumDXS6807 short tandem repeat polymorphism for forensic application.
This paper presents sequence and population genetic data of the HumDXS6807 short tandem repeat (also known as CHLC.GATA52B03) which is a tetranucleotide repeat polymorphism representing seven alleles of 251-275 bp in length. HumDXS6807 is located at Xpter-Xp22.2, i.e., at a genetic distance of more than 87 and 151 cM from the well-known markers HumARA and HumHPRTB, respectively. Kinship tests in 157 family trios revealed a typical X-linked codominant inheritance; mutations were not found. Population genetic data were obtained by analyzing a Caucasian population sample comprising 308 females and 209 males: polymorphism information content (PIC) = 0.640; Heterozygosity (Het) = 0.668; Mean exclusion chance (MEC) = 0.414. The HumDXS6807 allele distribution met the Hardy-Weinberg expectations.
DNA↗
Short tandem repeat (STR) locus HUMD8S306 in a large population sample from Germany.
Applied DNA typing in medico-legal investigations, in criminalistic practice, and in paternity cases often relies on high inclusion and exclusion probabilities. For that reason, the short autosomal tandem repeat locus D8D306 was validated for forensic use and incorporated into a nonoverlapping multiplex reaction with HUMDHFRP2 and HUMCD4: The allele frequencies of D8S306 in four different regions of Germany (n = 1220 alleles) were determined for use in a population database; the allele distributions did not significantly deviate from each other. The hererozygosity of D8S306 is 83%, expected exclusion chance in stain cases is 96% (paternity cases: 69%), the lowest amount of successfully amplified DNA was 30 pg. The alleles are in Hardy-Weinberg equilibrium.
Alleles↗
Y chromosome polymorphisms and haplotypes in west Saxony (Germany).
In order to apply a set of useful and high polymorphic Y-STRs in paternity testing, we performed a population genetic study from Saxony. The allele distributions of the systems DYS19, DYS385, DYS389I/II and DYS390 were investigated in a sample of 250 unrelated males from the area of Leipzig. PCR products were detected using native polyacrylamide gel electrophoresis as well as capillary electrophoresis and GenScan Software on the ABI Prism 310 DNA sequencer. Haplotype frequency data of 164 different types were obtained which show that these four systems are very useful for special cases of paternity and forensic stain analysis. In addition several confirmed father-son pairs were examined using the paternity cases of the institute. One mutation was found in the system DYS390 and sequencing data are presented.
Alleles↗
Second unrelated bone marrow transplantation without additional conditioning therapy after engraftment failure.
A 37-year-old female highly alloimmunized by multiple transfusions received a sex matched HLA-identical unrelated bone marrow transplant for hypoplastic MDS-RA with moderate myelofibrosis. Conditioning consisted of total body irradiation, cyclophosphamide and ATG, GVHD prophylaxis consisted of CsA, MTX and prednisolone. The CD34+ stem cell content of the first graft was relatively low due to an inadequate harvest. The patient appeared not to have engrafted by day 23 post-BMT. She therefore received a second sex mismatched HLA-identical unrelated bone marrow graft on day 25 after two days of 3.5 mg/kg methylprednisolone from a different donor. Over the ensuing days, the first marrow showed slow engraftment followed by engraftment of the second graft. The first graft was then rejected, as monitored by peripheral blood studies of chimerism. No signs of acute GVHD were observed. Despite successful trilineage engraftment and complete second donor chimerism, the patient died from disseminated toxoplasmosis encephalitis and pneumonia on day +104.
Adult↗