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Allele frequencies of the two short tandem repeat (STR) systems F13B and CD4 were determined in an Austrian population sample by PCR analysis. A total of 6 alleles for F13B and 8 alleles for CD4 could be observed in a population of 216 (F13B) and 198 (CD4) unrelated individuals. No significant deviations from Hardy-Weinberg equilibrium were observed.
Population genetic studies were carried out on Caucasians from southern Turkey (n = 204 individuals) using the short tandem repeat (STR) systems HumTHO1, HumVWA and HumACTBP2. After electrophoresis in polyacrylamide gels, 6 alleles could be identified for HumTHOI, 7 alleles for VWA and 26 alleles for ACTBP2. No significant deviations from Hardy-Weinberg equilibrium could be observed.
Population studies were carried out on Caucasians from north-west Germany using the short tandem repeat (STR) systems HumVWA (locus: 12p12-12pter), HumMBP (locus: 18q23-pter) and HumFABP (locus: 4q28-q31). After electrophoresis 9 alleles could be identified for HumVWA in a sample size of 321 unrelated individuals and 4 alleles were found for HumFABP in 106 individuals. For HumMBP-A 10 alleles and for HumMBP-B 7 alleles and 1 intermediate allele were determined in a sample size of 143 individuals. No deviations from Hardy-Weinberg equilibrium could be observed. In a small family study (HumVWA-n = 129; HumMBP-n = 59; HumFABP-n = 48) no new mutations could be found for HumMBP-A and HumFABP whereas 2 mutations were found in HumMBP-B and one mutation in HumVWA. Positive results could be obtained from 1 ng-20 pg (HumVWA, HumFABP) and 1 ng-100 pg (HumMBP) template DNA.
Isolated father/child mismatches in cases with a high probability of paternity (W > 99.9%) have been investigated using short tandem repeat (STR) systems. According to the high probability of paternity new mutations could be assumed in these cases. A new mutation could be observed in 3 cases using the STR system HumACTBP2. Two of these cases showed a deletion and 1 case an insertion of 1 repeat (AAAG-motif) which could be verified by sequencing. In another paternity case a new mutation--1-repeat insertion (TCTA-motif)--in the HumVWA system was detected and verified by sequencing. These findings led to a new mutation rate of 0.7% (n = 453 meioses) for HumACTBP2 and 0.2% for HumVWA (n = 484 meioses).
Population genetic studies were carried out on Caucasians from north-west Croatia (Zagreb-area) using the short tandem repeat (STR) systems HumTHO1, HumVWA and HumACTBP2. After electrophoresis in PAG, 6 alleles could be identified for HumTHO1 in a sample size of 100 unrelated individuals and 7 alleles were found for VWA. For ACTBP2, 25 alleles have been identified. No significant deviations from Hardy-Weinberg equilibrium could be observed.
The short tandem repeat system FES/FPS was amplified by the polymerase chain reaction (PCR) in 211 unrelated Austrians and analysed by horizontal, non-denaturing electrophoresis. The allele distribution was in Hardy-Weinberg equilibrium. No mutations were found in 25 families (50 meioses). The mean exclusion chance was 0.49, the discriminating power 0.86 and the heterozygosity rate 74.4%. Amplification could be achieved with as little as 100 pg of high molecular weight DNA, which could be reduced to 75 pg by using 32 instead of 30 cycles. By reamplifying 1 microliter for another 15 cycles, the threshold could be reduced to less than 20 pg. In a degradation experiment DNA extracted from bloodstains stored for up to 24 days in a moist chamber and DNA boiled for up to 18 min could be amplified.
A population study was carried out on a random sample of 164 individuals from North Portugal using the short tandem repeat (STR) system hTPO (locus: 2p23-2pter). After electrophoresis, 7 alleles were identified of which 6 had been previously described and a new one, estimated to be 134 bp long. The observed genotype distribution is in Hardy-Weinberg equilibrium. In order to assess the forensic applicability of the system, namely for paternity investigations, 109 mother-child pairs were analysed. No exclusions were found and the observed distribution did not deviate from the expected. Since hTPO has a relatively high information content (PIC = 0.60; H = 0.65) this system can be very useful in paternity investigations.
Thirty-one sequence tagged sites and a highly polymorphic short tandem repeat polymorphism have been isolated from 5q34-q35 and integrated into the yeast artificial chromosome (YAC) contig of 5q34-q35. In addition, four genes (MSX2, CSX, DRD1, and CL100) and a pseudogene (GLUT6) were localized on this map. The high density of new markers in the region allowed further refinement of the YAC contig of distal 5q. This is a prerequisite for the conversion of this YAC into a cosmid contig.
Allele frequencies of the Short tandem repeat systems HumVWA and HumACTBP2 were determined from 105 unrelated individuals from the area of Szeged, Hungary. A total of 8 alleles was detected for VWA, and 23 alleles were found for ACTBP2. In both systems no deviations from Hardy-Weinberg equilibrium were observed. A comparison of the Hungarian and German frequency profiles revealed significant differences at both STR loci.
Allele and genotype frequencies for 2 short tandem repeat loci were determined in a population sample from Catalonia (Spain) using the polymerase chain reaction. After denaturing PAG electrophoresis, seven common and one variant (13.3) alleles were identified for HUMTH01 in a sample of 234 unrelated individuals, and seven alleles were found for HUMVWA31A in 162 individuals. No deviation from Hardy-Weinberg equilibrium was found. The observed heterozygosities are 76.92 and 79.62 respectively. The discrimination power determined for the individual loci is 0.928 and 0.937 respectively.
Allele fragments at two polymorphic short tandem repeat (STR) loci, CYP19 and HUMTH01, were simultaneously amplified in a sample of 200 unrelated Japanese individuals living in the Kanto area, including Tokyo. After electrophoresis in PAG, the new alleles 7, 10, 11, 12, and 13 were detected at the CYP19 locus in Japanese. HUMTH01 allele frequencies in Japanese differed greatly from those reported for Caucasians and Asians living in the US. The polymorphism information content (PIC) in Japanese was calculated as 0.46 for CYP19 and 0.66 for HUMTH01. The power of discrimination (PD) was 0.7 for CYP19 and 0.86 for HUMTH01, and the combined PD was calculated as 0.96. No significant deviations from Hardy-Weinberg equilibrium could be observed for these systems.
Data have been collected from 602 Caucasians, 190 Afro-Caribbeans and 257 Asians of Indo/Pakistani descent who have been profiled using a new six locus short tandem repeat (STR) multiplex. The data have been analysed by conventional significance testing methods: the exact test, homozygosity, and conventional goodness of fit to Hardy-Weinberg proportions. Frequency tables are given and the expected performance in British forensic casework is discussed.
Allele and genotype frequencies were determined in a population sample from Catalonia (northeast Spain) for two short tandem repeat loci (HUMCD4 and HUMF13A1), using the polymerase chain reaction (PCR). After denaturing PAG electrophoresis, 6 alleles were identified for HUMCD4 in a sample of 157 unrelated individuals, and 11 alleles for HUMF13A1 in a sample of 141 individuals. No deviation from Hardy-Weinberg equilibrium was found. The HUMCD4 and HUMF13A1 loci demonstrated a heterozygosity of 0.6815 and 0.7305 respectively.
Genotypes of 103 short tandem repeat (STR) markers distributed at an average of 40 cM intervals throughout the genome were determined for 40 individuals from the village of BirEl Hfai (BEH). This village of approximately 31,000 individuals is localized in the south-west of Tunisia. The allele frequency distributions in BEH were compared with those obtained for individuals in the CEPH (Centre d'Etude du Polymorphisme Humain) data using a Kolmogorov-Smirnov two-sample test. Fourteen out of the 103 markers (13.2%) showed significant differences (P<0.05) in distribution between the two populations. Population heterogeneity in BEH was indicated by an excess of observed homozygosity deviations from Hardy-Weinberg equilibrium at three loci (P<0.0005). No evidence for genotypic disequilibrium was found for any of the marker pairs. This demonstrated that in spite of a high inbreeding level in the population, few markers showed evidence for a different pattern of allelic distribution compared to CEPH.
Linguistic evidence suggests that West Asia and Central Asia have been the two major geographical sources of genes in the contemporary Indian gene pool. To test the nature and extent of similarities in the gene pools of these regions we have collected DNA samples from four ethnic populations of northern India, and have screened these samples for a set of 18 Y-chromosome polymorphic markers (12 unique event polymorphisms and six short tandem repeats). These data from Indian populations have been analysed in conjunction with published data from several West Asian and Central Asian populations. Our analyses have revealed traces of population movement from Central Asia and West Asia into India. Two haplogrops, HG-3 and HG-9, which are known to have arisen in the Central Asian region, are found in reasonably high frequencies (41.7% and 14.3% respectively) in the study populations. The ages estimated for these two haplogroups are less in the Indian populations than those estimated from data on Middle Eastern populations. A neighbour-joining tree based on Y-haplogroup frequencies shows that the North Indians are genetically placed between the West Asian and Central Asian populations. This is consistent with gene flow from West Asia and Central Asia into India.
In order to assess the clinical manifestations and electrocardiogram (ECG) characteristics of Chinese long QT syndrome (LQTS) patients and describe the phenotype-genotype correlation, the subjects from 5 congenital LQTS families underwent clinical detailed examination including resting body surface ECG. QT interval and transmural dispersion of repolarization (TDR) were manually measured. Five families were genotyped by linkage analysis (polymerase chain reacting-short tandem repeat, PCR-STR). The phenotype-genotype correlation was analyzed. Four families were LQT2, 1 family was LQT3. Twenty-eight gene carriers were (14 males and 14 females) identified from 5 families. The mean QTc and TDRc were 0.56 +/- 0.04 s (range 0.42 to 0.63) and 0.16 +/- 0.04 s (range 0.09 to 0.24) respectively. 35.7% (10/28) had normal to borderline QTc (< or = 0.460 s). There was significant difference in QTc and TDRc between the patients with symptomatic LQTS and those with asymptomatic LQTS, and there was significant difference in TDRc between the asymptomatic patients and normal people also. A history of cardiac events was present in 50% (14/28), including 9 with syncope, 2 with sudden death (SD) and occurred in the absence of beta-blocker. Three SDs occurred prior to the diagnosis of LQTS and had no ECG record. Two out of 5 SDs (40%) occurred as the first symptom. Typical LQT2 T wave pattern were found in 40% (6/15) of all affected members. The appearing-normal T wave was found in one LQT3 family. Low penetrance of QTc and symptoms resulted in diagnostic challenge. ECG patterns and repolarization parameters may be used to predict the genotype in most families. Genetic test is very important for identification of gene carriers.
We report the positive identification of several members of the guerrillas led by Ernesto "Che" Guevara on the 1960 s in Bolivia by means of DNA fingerprinting. Successful DNA typing of both short tandem repeat loci and the hypervariable region of the human mitochondrial DNA was achieved after extracting total DNA from bones obtained from two burial sites. Given the size of the Cuban database for the STR allele frequencies, a conservative approach was followed to estimate the statistical significance of the genetic evidence. The estimated probabilities of paternity for the two cases in which the paternity logic was applied were higher than 99%. One case was analyzed using mitochondrial DNA and could not be excluded from the identity proposed by the forensic anthropology team. A fourth case was identified by exclusion, on the basis of the positive identification of the other remains, the historical and other anthropological evidence.
The ends of linear chromosomes must be elongated in a DNA-replication-independent fashion. For chromosome end elongation the majority of eukaryotes use a specialized reverse transcriptase, telomerase, which adds a short, tandemly repeated DNA sequence motif to chromosome ends. Chromosome elongation can also be achieved, however, by mechanisms other than telomerase. Such elongation events have been detected under conditions where telomerase has been inactivated experimentally and in the few organisms that naturally lack telomerase. We will summarize current knowledge on these telomerase-independent elongation mechanisms in yeast and mammalian cells and will discuss in more detail the telomere elongation mechanism by retrotransposons in Drosophila melanogaster.