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At least 613 records · Page 34Linked to original sources

PubMed1994

Deduction of the order of sexual assaults by DNA analysis of two condoms.

Differential DNA extraction procedures were performed on two condoms found at a rape scene. One of the condoms was recovered intact (A), while the second condom (B) had apparently ruptured during the alleged attack. Two related suspects (cousins 1 & 2) were identified as the potential semen donors. Condom B contained DNA from the female and from one of the suspects. Condom A contained DNA from the suspect identified on condom B and from an unidentified individual. The presence of DNA from suspect 2 on both condoms led to the deduction that his sexual activity preceded that of the unidentified suspect. The ability to determine such a sequence of events using DNA typing is unusual.

Condoms↗

PubMed1990

[Possibilities of prenatal diagnosis in hemophilia A based on DNA analysis].

Haemophilia-A is the most common bleeding disorder in man, resulting from a deficiency of the coagulant protein, factor VIII. The factor VIII gene is located at Xq28 and the disease is inherited as an X-linked recessive disorder. There is a possibility using DNA probes closely linked to the gene factor VIII to determine the genotype. The availability of factor VIII DNA probes has led to the detection of carrier females and first trimester prenatal diagnosis of haemophilia-A. The authors give a short account on their experiences with four DNA probes. Their studies were carried out in nine families who have affected individuals and plan another pregnancies in the near future. DNA analysis can allow first trimester prenatal diagnosis from chorionic villi taken at 8-10th weeks of gestation. In the case of a male fetus it is possible to determine whether the mutant gene is inherited or not. Till now seven prenatal diagnoses have been performed based on the chorionic DNA.

Chorionic Villi Sampling↗

PubMed1993

Gestational and non-gestational trophoblastic neoplasms: new developments in DNA analysis, metabolic function, diagnosis and treatment.

Recent technological advances have made it possible to further define important molecular biological characteristics of gestational and non-gestational trophoblast neoplasm, as they relate to genetic origin and metabolic, endocrine, and diagnostic functions. Exciting new work with DNA analysis has defined origins of placental site trophoblastic tumors, a variant of choriocarcinoma not previously well understood. Coexistent hydatidiform mole and normal gestation have been diagnostically defined and carried out to viability. Finally, refinement of classification systems and expanded tumor markers offer promise of improved salvage in gestational neoplasms and an enlarging number of non-gestational neoplasms.

DNA, Neoplasm↗

PubMed1987

Fine-needle biopsy cytology and DNA analysis. Their place in the evaluation and treatment of patients with thyroid neoplasms.

Fine-needle aspiration allows sampling of tissues without surgical biopsy. This technique provides accuracy, speed, patient acceptance, and individual cells for the study of neoplasia. When this procedure is combined with DNA analysis, it is possible to obtain preoperatively additional diagnostic and prognostic information superior to that obtained by clinical and morphologic methods alone. This information is of utmost importance when planning appropriate treatment.

Biopsy, Needle↗

PubMed1995

DNA analysis of bronchoalveolar lavage in the diagnosis of pulmonary lymphoma.

Lung lymphomas frequently present a diagnostic challenge. The diagnosis of malignant lymphoma is possible when lymphocyte subpopulations show aneuploidy or a definable monoclonal surface marker or both. We present a case of lymphoma of the lung in which DNA analysis of bronchoalveolar lavage fluid was the first successful method in the time course of diagnosis.

Aged↗

PubMed2003

Ancient DNA analysis reveals woolly rhino evolutionary relationships.

With ancient DNA technology, DNA sequences have been added to the list of characters available to infer the phyletic position of extinct species in evolutionary trees. We have sequenced the entire 12S rRNA and partial cytochrome b (cyt b) genes of one 60-70,000-year-old sample, and partial 12S rRNA and cyt b sequences of two 40-45,000-year-old samples of the extinct woolly rhinoceros (Coelodonta antiquitatis). Based on these two mitochondrial markers, phylogenetic analyses show that C. antiquitatis is most closely related to one of the three extant Asian rhinoceros species, Dicerorhinus sumatrensis. Calculations based on a molecular clock suggest that the lineage leading to C. antiquitatis and D. sumatrensis diverged in the Oligocene, 21-26 MYA. Both results agree with morphological models deduced from palaeontological data. Nuclear inserts of mitochondrial DNA were identified in the ancient specimens. These data should encourage the use of nuclear DNA in future ancient DNA studies. It also further establishes that the degraded nature of ancient DNA does not completely protect ancient DNA studies based on mitochondrial data from the problems associated with nuclear inserts.

Animals↗

PubMed1999

Correlation between polymerase chain reaction analysis of the histidine biosynthesis operon, randomly amplified polymorphic DNA analysis and phenotypic characterization of dairy Lactococcus isolates.

A collection of 32 lactococcal strains isolated from raw milk in the Camembert RDO (registered designation of origin) area were phenotypically and genotypically characterized. As expected for environmental isolates, all strains had a Lactococcus lactis subsp. lactis phenotype. The strains were then genotypically identified by the randomly amplified polymorphic DNA (RAPD) technique, using reference strains of lactococci. Two major clusters were identified containing the two subspecies lactis and cremoris. The subspecies lactis cluster could be divided into five subgroups whereas there was a high coefficient of similarity between all strains in the subspecies cremoris cluster. This RAPD classification was then compared with that of a traditional PCR assay using L. lactis species-specific primers corresponding to part of the histidine biosynthesis operon. The two subspecies were differentiated by the size of the fragment amplified (about 200 bp longer for subspecies cremoris). Unlike preliminary phenotypic assignments, the results of PCR experiments corroborated the genotypic identification of the lactococcal strains by RAPD allowing the technique to be reconsidered on the basis of its taxonomic efficiency.

Animals↗

PubMed1987

Flow cytometric DNA analysis of malignant lymphomas with primary bone manifestation.

Malignant lymphomas with primary skeletal manifestation have received controversial evaluation with regard to histological classification and histogenesis. Recent histological and immunohistological studies on the rare bone lymphomas conducted by our team, have shown that they do not differ from primary nodal lymphomas with regard to the spectrum of histological subtypes. The present flow cytometric DNA analysis of paraffin-embedded material from 17 lymphomas documented in the Bone Tumor Registry of Westfalia yielded the following distribution pattern of DNA ploidy: among 12 non-Hodgkin's lymphomas (NHL) (according to the Kiel classification) there was only 1 case of low grade malignancy; this centroblastic-centrocytic lymphoma showed a unimodal diploid DNA histogram. Of 11 highly malignant NHL, 6 were DNA hyperdiploid. Among the 5 cases of Hodgkin's lymphoma, 4 were DNA diploid, (1 nodular sclerosing, 3 mixed types) and one DNA tetraploid (lymphocytic depletion type). Comparison with data from the literature reveals that even with regard to DNA ploidy, malignant lymphomas primarily manifesting in bone do not differ from those of exclusively nodal manifestation.

Bone Neoplasms↗

PubMed1989

Limitations of flow cytometric DNA analysis for the diagnosis of bladder cancer.

Flow cytometric analysis was done on exfoliated urothelial cells from 11 control patients and 31 patients with transitional cell carcinoma: 9 grade I, 11 grade II, and 11 grade III. The determination of aneuploidy by DNA analysis did not provide identification of low-grade tumor cells. Other flow cytometric parameters of cellular change such as cell size, nuclear size, nuclear/cytoplasmic ratio, or cell refractivity may provide better identification of low-grade lesions.

Carcinoma, Transitional Cell↗

PubMed1998

Advantages of immunostaining over DNA analysis using PCR amplification to detect p53 abnormality in long-term formalin-fixed tissues of human colorectal carcinomas.

To study the appropriate period for formalin fixation in order to detect p53 abnormalities in formalin-fixed tissue, we used seven surgically resected human colorectal cancer specimens. The immunohistochemical reactivity of p53 immunostaining and amplification of DNA by polymerase chain reaction (PCR) of the p53 gene were compared after various periods of 10% formalin fixation (1 day, and 1, 2, 4, and 8 weeks). For comparative immunostaining, we used the monoclonal antibody Ki-67 (MIB-1), and for comparative polymerase chain reaction (PCR), K-ras at codon 12 was amplified. Immunostaining was performed by the streptavidin-biotin method with microwave retrieval, and PCR amplifications were performed by the nested PCR method. p53 and Ki-67 immunoreactivity did not change essentially for up to 2 weeks and 1 week, respectively, of formalin fixation. PCR amplification for p53 at exon 8 and K-ras at codon 12 was successful until 1 day and 2 weeks, respectively, of formalin-fixation for the specimens of all seven cases. Thereafter, the amplification tended to worsen as the fixation time lengthened. Further, the DNA was more successfully amplified in the second PCR than in the first. These results suggest that to detect p53 abnormality in specimens that have been formalin-fixed for long periods, immunohistochemical staining may have advantages over DNA analysis with PCR amplification.

Colorectal Neoplasms↗

PubMed2003

Clinicopathologic study and DNA analysis of 37 cardiac myxomas: a 28-year experience.

PURPOSE: This study was performed to identify morphologic features of cardiac myxomas related to embolism and to provide a better understanding of the biology of these tumors, mainly in relation to their interleukin (IL)-6 expression and DNA content. PATIENTS AND METHODS: A total of 37 cardiac myxomas were reviewed retrospectively in a clinicopathologic study that included the correlation of echocardiographic and pathologic findings in 25 cases, together with immunohistochemical evaluation of IL-6 expression and flow cytometric DNA analysis of 35 tumors. RESULTS: There were 24 female patients and 13 male patients. The mean (+/- SD) age was 52 +/- 15 years. Fifty-four percent of patients presented with dyspnea, 51% presented with increased erythrocyte sedimentation rate (ESR), and 27% presented with embolic episodes, which were significantly associated with villous surface tumors. Atrial fibrillation was registered in 19% of patients and was significantly associated with large left atrial myxomas. Echocardiography proved to be a reliable method for preoperative diagnosis and for predicting tumor size and morphology. There was no perioperative mortality or long-term recurrences. The frequency of early surgical complications was associated with a longer mean ischemic time. Seventeen percent of tumors had abnormal DNA content, and 74% of tumors showed immunohistochemical expression of IL-6. Neither of these factors showed a significant association with embolism or constitutional illness. CONCLUSIONS: Villous surface myxomas are related to embolism, and large left atrial tumors are related to atrial fibrillation. Echocardiography is a reliable method with which to predict tumor size and morphology. Myxoma cells usually express IL-6, and some tumors have abnormal cellular DNA content. Surgical excision of the tumor is a safe and effective treatment.

Adolescent↗

PubMed1991

DNA analysis of neoplasia: an introduction for the family physician.

Pathologic evaluation of a neoplastic process has traditionally consisted of microscopic examination of a stained section of tissue. Although this method is generally reliable when performed by an experienced pathologist, the morphologic features of a lesion may not consistently predict biologic behavior. The DNA content of tumors can be studied with a flow cytometer to help determine the prognosis and risk of tumor recurrence. DNA analysis of a neoplasm may provide the clinician with important prognostic information and, at some future date, may help direct chemotherapy or other treatment protocols.

Adult↗

PubMed2005

Fecal DNA analysis for identifying species and sex of sympatric carnivores: a noninvasive method for conservation on the Tsushima Islands, Japan.

Fecal analysis is a useful tool for the investigation of food habits and species identity in mammals. However, it is generally difficult to identify the species based on the morphological features and contents of feces deposited by mammals of similar body size. Therefore we developed noninvasive DNA analysis methods using fecal samples for identification of the species and sex of four small sympatric carnivores living on the Tsushima Islands of Japan: the leopard cat (Felis bengalensis), Japanese marten (Martes melampus), Siberian weasel (Mustela sibirica), and feral cat (Felis catus). Based on DNA sequence data from previous phylogenetic studies, we designed species-specific primers for polymerase chain reaction (PCR) amplification of the partial mitochondrial cytochrome b gene (112-347 bp) to identify the species and primers for the partial SRY gene (135 bp) to determine the sex. Due to the adjustment of PCR conditions, those specific DNA fragments were successfully amplified and then applied for species and sex identification. Nucleotide sequences obtained from the PCR products corresponded with cytochrome b sequences of the carnivore species expected. The protocol developed could be a valuable tool in the management and conservation of the four carnivore species occurring on the Tsushima Islands.

Animals↗

PubMed2003

Extensive analysis of the 13q14 region in human prostate tumors: DNA analysis and quantitative expression of genes lying in the interval of deletion.

BACKGROUND: Loss of heterozygosity (LOH) on chromosome arm 13q14 is one of the most consistent genetic alterations in sporadic prostate cancer. This alteration may be involved in prostate oncogenesis through inactivation of one or more tumor suppressor genes (TSGs). Candidate gene expression is an approach to focus the search for TSGs in this region. METHODS: We tested 41 human sporadic prostate tumors for 13q14 LOH by using seven polymorphic markers overlapping the critical region and used a real-time quantitative RT-PCR assay to study the same tumors for expression of the 31 genes located in this genomic region (localized by the Human Genome Project Working Draft). RESULTS: Allelic loss on at least one locus was found in 18 (41%) of the 41 tumor DNAs. Only four genes (ITM2B, CHC1L, KIAA0970, and LOC51131), located in the region most frequently deleted in prostate carcinoma, showed a significant difference in expression between normal and neoplastic prostate tissues. CONCLUSIONS: Given their location in the LOH hotspot, as indicated by our genomic analysis, ITM2B, CHC1L, KIAA0970, and LOC51131 are candidate tumor suppressor genes in this region. ITM2B that showed a significant association (P < 0.005) between expression and LOH at the corresponding locus could, furthermore, be the main target of the observed LOH at 13q in prostate tumors.

Adenocarcinoma↗

PubMed1994

[Cytofluorometric DNA analysis in different histological patterns of thyroid papillary carcinoma].

Some papillary carcinomas of thyroid glands contain not only typical papillary structures but also various histological features in the same tumor. To investigate how areas with variable histological features differ in proliferative activity and how these differences influence the biological behavior of the whole tumor, we measured DNA contents by cytofluorometry in six papillary carcinomas with different histological features in the same tumor. DNA ploidy patterns were determined and the percentage of S plus G2M phase cells (S + G2M fraction) was calculated only in diploid tumors to assess the proliferative activity. The following conclusions were drawn. 1) It was demonstrated that there were differences in proliferative activity among areas with variable histological features in 4 of six tumors. 2) In the tumors which invaded adjacent tissues, the proliferative activity of the invasive area tended to be higher than that of the original area of the tumor. Therefore, the possibility exists that more precise evaluation of the biological behavior of the tumor can be obtained by measuring DNA contents of the tumor cells in invasive areas. 3) There was the gap in S + G2M fractions among some tumors with the same histological differentiation. Accordingly, DNA analysis of tumors would be of value in estimating proliferative activity.

Aged↗

PubMed2005

Outcomes and DNA analysis of ex vivo expanded stem cell allograft for ocular surface reconstruction.

PURPOSE: To investigate the outcome of a new technique of ex vivo expanded stem cell allograft for limbal stem cell deficiency (LSCD), and to characterize the ocular surface genotype after surgery. DESIGN: Retrospective noncomparative case series. PARTICIPANTS: Ten eyes of 10 patients with profound LSCD arising from ectodermal dysplasia (3 eyes), Stevens-Johnson syndrome (3 eyes), chemical injury (2 eyes), thermal injury (1 eye), and rosacea blepharoconjunctivitis (1 eye). INTERVENTION: Allogeneic corneal limbal stem cells were cultured on plastic and transplanted to the recipient eye after removal of conjunctival pannus. Amniotic membrane was applied in a bandage capacity. The procedure was combined with other reconstructive surgery in 2 cases. Nine patients received systemic cyclosporin A immunosuppression, and the DNA genotype was investigated with surface impression cytology. MAIN OUTCOME MEASURES: Parameters of LSCD, including vascularization, conjunctivalization, inflammation, epithelial defect, photophobia, and pain. RESULTS: The mean follow-up period was 28 months (range, 12-50). Seven of 10 eyes (70%) had improved parameters of LSCD at final follow-up and were considered successes. Four (40%) had improved visual acuity, including 3 having had further procedures for visual rehabilitation. Three patients failed to improve-1 with a thermal burn and lid deformity, 1 with Stevens-Johnson syndrome and severe dry eye, and 1 with ectodermal dysplasia who developed an epithelial defect at 26 months. DNA analysis of the first 7 cases showed no ex vivo donor stem cell DNA present beyond 9 months. CONCLUSIONS: Ex vivo expanded stem cell allograft is a useful technique for restoring the ocular surface in profound LSCD. The absence of donor DNA beyond 9 months suggests that ongoing immunosuppression may be unnecessary and raises questions regarding the origin of the host corneal epithelium.

Adolescent↗

PubMed1986

Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy.

In studies of the X chromosomes of two unrelated boys with adrenal hypoplasia, glycerol kinase deficiency, Duchenne muscular dystrophy, and mental retardation, conventional G banding did not reveal any numerical or structural abnormality, but direct DNA analysis with the X short-arm probes 754, C7, and OCT revealed a deletion in 1 of these patients. It is likely that both boys have a deletion at Xp21 affecting a number of closely linked disease-specific gene loci.

Adrenal Insufficiency↗

PubMed1992

Flow and image cytometric DNA analysis in Ewing's sarcoma.

Ewing's sarcoma is the second most common bone tumor in childhood, with an overall 5-yr survival of 40%. It is one of the poorly differentiated small spherical cell tumors frequently requiring distinction from rhabdomyosarcoma, neuroblastoma, osteosarcoma, primitive neuroectodermal tumor, and lymphoma. The majority of rhabdomyosarcomas, neuroblastomas, and osteosarcomas are aneuploid, whereas Ewing's sarcomas are usually diploid. To determine whether there is any correlation between DNA content, morphology, site, and survival in Ewing's sarcoma and extraosseous Ewing's sarcoma, 21 tumor samples were studied retrospectively (3 extraosseous Ewing's and 18 Ewing's sarcomas). The DNA analysis was performed on disaggregated paraffin-embedded tissue nuclei by flow (FCM) and image (IC) cytometry and correlated with the histology and clinical history. The DNA ploidy by FCM on 17 of 18 Ewing's sarcoma samples was 12 diploid, 1 aneuploid, and 4 tetraploid. By IC, the DNA ploidy on 16 samples was 13 diploid, 1 aneuploid, and 2 tetraploid. Three samples were nonevaluable (1 by FCM and 2 by IC). The agreement between FCM and IC was 12 of 16 (75%). The extraosseous Ewing's sarcoma tumors were 2 diploid and 1 aneuploid by IC. In this study there was no correlation between the DNA ploidy and either the histology, site, or survival.

Adolescent↗