Donor-type microchimerism associated with graft rejection eight years after liver transplantation.
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Adolescent↗
Biomedical subjects
J Hundrieser
Publications and source records attributed to J Hundrieser.
Selected di- and tetranucleotide microsatellites from chromosomes 7, 12, 14, and Y in various Eurasian populations.
Microsatellite polymorphisms of nine Eurasian populations (> 1200 chromosomes) were analyzed for the following loci: i) intronic (gt)n stretches of three T cell receptor (TCR) B loci on chromosome 7 (TCRBV6S1, TCRBV6S3, TCRBV6S7); ii) an intergenic (gt)n repeat in the region between the TCRDV3 and TCRAJ61 elements on chromosome 14; iii) two tetranucleotide simple repeats (D12S66, D12S67), not linked to known genes on chromosome 12; iv) a Y-chromosomal (gata)n polymorphism (DYS19). In general, allele frequencies and heterozygosity rates were similar, but specific alleles were missing in one or more populations. Distinct DYS19 alleles predominated in particular cohorts. Different allele frequencies were observed for the TCR loci in European and Asian populations. Tetranucleotide polymorphisms were distributed normally, whereas TCR alleles displayed bimodal frequency profiles. For TCRBV6S1 and TCRBV6S7, this profile reflects a diallelic protein polymorphism that correlates exactly with the length of the intronic repeats.
Alleles↗
Oligonucleotide DNA fingerprinting: results of a multi-center study on reliability and validity.
We report the results of an empirical study of 256 paternity cases referred to 7 different German laboratories for DNA fingerprinting with oligonucleotide probe (CAC)5/(GTG)5. All parameters characteristic of such multilocus DNA fingerprints were found to differ significantly between the contributing centres. Despite these differences, clear-cut decisions between paternity and non-paternity could be made in all but one case. Furthermore, we found no systematic deviation of the gel-phenotype distribution among trios from random expectation as derived from commonly adopted analytical models. Thus, we conclude that oligonucleotide DNA fingerprinting is a robust and reliable means for the resolution of paternity cases.
Base Sequence↗
Paternity testing with oligonucleotide multilocus probe (CAC)5/(GTG)5: a multicenter study.
The statistical analysis is reported of 256 paternity cases referred to seven different German laboratories for multilocus DNA fingerprinting with oligonucleotide probe (CAC)5/(GTG)5 and restriction enzyme HinfI. All parameters characteristic of multilocus DNA fingerprints were found to differ significantly between the contributing centres: the number of analyzed gel positions, the number of bands scored per individual, the probability of occurrence of a band at a particular position, and the band-sharing probabilities between the mother and both child and alleged father. Despite these differences, paternity cases could be divided clearly into two distinct subgroups on the basis of (i) offspring bands that could not be assigned to either the mother or the alleged father and (ii) the extent of band-sharing between child and alleged father. This partitioning, which is likely to correspond to true and false paternity, confirms previous findings for other multilocus probes. A goodness-of-fit test on the normalized number of bands scored per individual revealed no systematic deviations from commonly adopted analytical models regarding electrophoretic bands as independent entities. Log10-likelihood ratios of paternity vs. non-paternity were calculated utilizing one of these models, and a clear-cut partitioning was again obtained which coincides with that mentioned before. Only one case could not be decided unambiguously, and was either due to two independent mutations or to a close relative of the alleged father being the true father.
Child↗
On the potential of simple repetitive DNA for fingerprinting in clinical, forensic, and evolutionary dynamic studies.
The purpose of this review is to discuss critically the practical meaning of a specific genome component, simple repetitive desoxyribonucleic acid (DNA) sequences as clinical and forensic and diagnostic and research tools. Previously, multilocus DNA fingerprinting was the major technology employed to visualize such simple repeat sequences. This technique enables many polymorphic loci to be simultaneously detected thus yielding vast amounts of information. With the advent of enzymatic DNA amplification via the polymerase chain reaction (PCR), individual simple repeat loci can be demonstrated, theoretically even from single DNA molecules and so a wealth of additional approaches have also become feasible. In general investigating, small, known, single copy parts of genomes have not posed truly insurmountable problems if enough material was available. There have even been a few (anecdotal) reports on the amplification of simple repeats from ancient DNA (see, e.g. [30]. Here we would like to after a solid basis for an earnest discussion of the applications of these simple repetitive sequences using various methodological approaches relevant for clinical diagnosis, setting aside the obvious unsolved mysteries of their biology.
Animals↗
Marker haplotype association with growth in German cystic fibrosis patients.
In 84 families with 101 children with cystic fibrosis (CF) and 103 unaffected siblings, the haplotype of CF chromosomes was determined with six restriction fragment length polymorphism (RFLP) markers that span the CF gene locus. Patient groups with different genotypes in the more distant flanking marker loci MET D, MET H, and D7S8 differed significantly from each other with respect to percentile height and weight, and percentage of weight for height. Patients homozygous 1-1 in met D (TaqI) and met H (TaqI) were thin and tall when homozygous 1-1 in J3.11 (MspI), and small when homozygous 2-2 in J3.11. Heterozygosity in 3.11 and met H and homozygosity 1-1 in met D segregated with the most severe growth retardation. In contrast, growth was normal in patients who were heterozygous in met D and/or had an uncommon KM.19/XV-2c haplotype. Most patients with pancreatic sufficiency and/or borderline sweat test values were carrying rare haplotypes on their CF chromosomes. Adult patients clustered in genotype groups with normal height percentile distributions. This association between haplotype and clinical severity of CF in the German population provides evidence for genetic microheterogeneity of the CF locus, either because of the existence of multiple alleles of the CF gene itself and/or because of the existence of closely linked polymorphic genes that control growth and development and hence modulate the clinical course and prognosis of CF.
Adolescent↗
The distribution of the Hb constant spring gene in Southeast Asian populations.
The distribution of the hemoglobin Constant Spring (Hb CS) gene in eight populations in Southeast Asia (including Assam) was determined using oligonucleotide hybridization. Hb CS was absent in two Assamese populations with a high prevalence of Hb E. The Hb CS gene frequency was 0.033 in northern Thailand and near 0.01 in central Thailand and Cambodia. High frequencies, between 0.05 and 0.06, were observed in northeastern Thailand. The present data and a similar study in Laotians suggest that the Lao-speaking populations of the Mekong River basin in northeastern Thailand and Laos have the highest frequencies of the Hb CS gene in Southeast Asia.
Asia, Southeastern↗
Mediterranean types of beta-thalassemia in the German population.
Forty beta-thalassemia genes from unrelated German heterozygotes with no known foreign ancestry were examined using the oligonucleotide technique and DNA restriction analysis, with the aim of determining the contribution of Mediterranean beta-thalassemia mutations to the prevalence of this trait in the German population. Of the 40 beta-thalassemia genes, 26 were identified as Mediterranean types (20 beta 39 nonsense, 3 IVS2 nt 110, 2 IVS2 nt1, 1 IVS1 ntl G----A). The geographic distribution of the birthplaces of the probands' grandparents revealed no difference in the proportion of Mediterranean and unidentified beta-thalassemia genes in the west and the north of Germany.
DNA↗
Frequency of the F508 deletion in the CFTR gene in Turkish cystic fibrosis patients.
The F508 deletion in the cystic fibrosis transmembrane conductance regulator (CFTR) gene was found in 8 out of 30 Turkish cystic fibrosis (CF) chromosomes (27%). Five Turkish delta F508 CF chromosomes were associated with the risk haplotype B in KM19 (2 allele)/XV2c (1 allele). In the Turkish population, cystic fibrosis is predominantly caused by mutations other than the F508 deletion.
Chromosome Deletion↗
Distribution patterns of the delta F508 mutation in the CFTR gene of CF-linked marker haplotypes in the German population.
We have measured the frequency of the delta F508 mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and its association with cystic fibrosis (CF)-linked marker haplotypes in the German population. Based on the analysis of 400 CF chromosomes, the frequency of the delta F508 mutation is estimated to be 77.3%, the vast majority being associated with marker haplotype KM19-XV2c 2 1. Our data further suggest the presence of another frequent CF mutation associated with this marker haplotype.
Cystic Fibrosis↗
Study of alpha-thalassemia in northeastern Thailand at the DNA level.
The frequency of alpha-thalassemias in a general population sample from northeastern Thailand and in an Austroasiatic group with high frequencies of hemoglobin E and beta-thalassemia, the So, was estimated using DNA techniques. Among 64 healthy adult subjects from the Khonkaen and Ubol areas, the following haplotype frequencies were determined: alpha alpha, 0.742; -alpha 3.7 (subtype I), 0.148; -alpha 4.2, 0.016; -alpha del, 0.008; alpha Constant Spring alpha, 0.055; --SEA, 0.023, and alpha alpha alpha (triplicated alpha-globin gene), 0.008. In the So group, the combined frequency of alpha-thalassemia chromosomes was 0.525.
Gene Frequency↗
Direct demonstration of the HB Suan-Dok mutation in the alpha 2-globin gene by restriction analysis with Sma I.
Hb Suan-Dok [alpha 2(109)(G16)Leu-greater than Arg beta 2] has an alpha-thalassemia-like effect due to low production and instability of the altered alpha-globin chain. Since the Hb Suan-Dok mutation (CTG-greater than CGG) creates a new Sma I restriction site, it was possible to diagnose the mutation by restriction analysis. The location in the alpha 2-globin gene was confirmed. The distribution of alpha-globin gene anomalies and a beta-thalassemia gene in the original family, deduced from examinations at the protein level, was verified by DNA analysis.
Adolescent↗
Beta zero-thalassemia in a Thai family is caused by a 3.4 kb deletion including the entire beta-globin gene.
DNA analysis of a Northern Thai family with a child affected with beta-thalassemia major revealed a novel deletion of 3.4 kb removing the entire beta-globin gene in the proposita and her mother. Detailed mapping of the deletion located the 5' breakpoint in the region between nucleotides -810 and -128 of the beta-globin locus, and the 3' breakpoint between the Ava II and Xmn I sites located downstream of the beta-globin gene. The father transmitted a codon 17 nonsense mutation, a beta-thalassemia variant common in Thailand, to the child.
Base Composition↗
The spectrum of beta-thalassemia mutations in northern and northeastern Thailand.
A total of 123 beta-thalassemia genes from northern (n = 113) and northeastern (n = 10) Thailand were examined. Using five oligonucleotide probes, the mutation in 108 genes (88%) was identified: 50 nonsense 17, 49 frameshift 41-42, 4-28(A----G), 2 IV1 nt5(G----C), 2IVS2 nt654, and 1 deletion removing the entire beta-globin gene. The nonsense 17 mutation (n = 39) was linked to a single haplotype, whereas the frameshift 41-42 mutation occurred with several haplotypes. The results of the present study indicate that prenatal diagnosis of clinically important beta-thalassemia syndromes using a limited set of oligonucleotides is feasible in approximately 80% of affected families in northern Thailand and most of the families with beta-thalassemia-Hb E disease in northeastern Thailand.
Base Sequence↗
DNA fingerprinting with the oligonucleotide probe (CAC)5/(GTG)5: somatic stability and germline mutations.
DNA fingerprints were generated from various human somatic tissues and from peripheral blood of 179 children and their 80 parents using (CAC)5/(GTG)5 oligonucleotide probes. Whereas somatic stability of the fingerprint patterns was demonstrated, the average rate for germline mutations was estimated to be approximately 0.001 per DNA locus and gamete, with the three different restriction enzymes used. Seven out of eight mutations observed appeared to be of paternal origin.
Base Sequence↗
DNA haplotypes and frameworks linked to the beta-globin locus in an Austro-Asiatic population with a high prevalence of hemoglobin E.
DNA haplotypes (HT) and frameworks (FW) linked to the beta-globin locus were determined by restriction fragment analysis using eight restriction enzymes on chromosomes bearing the Hb A gene (HBB*A) or the HbE gene (HBB*E) in the So, an Austro-Asiatic population of northeast Thailand with an HBB*E frequency near 0.5. All HBB*E genes were present with FW2, and only two haplotypes were observed (25 HT 27-2, -+- +-; 10 HT 41-2, +----++-). In a control group from the general population of Northeast Thailand the HT distribution was more diverse, and 2 of 20 HBB*E genes were present in FW 3. High frequencies of HBB*E in FW 3 in Southeast Asia are apparently limited to the Khmer population of Cambodia. There were no differences in the hematologic parameters in subjects homozygous for HBB*E/FW2 or HBB*E/FW3.
DNA↗
Deletions and triplications of alpha globin genes in a German population.
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Chromosome Aberrations↗
Segregation of cystic fibrosis allele.
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Alleles↗