Tetranucleotide repeat polymorphism at the human alpha fibrinogen locus (FGA)

Mills, Karen; Even, DeeAnn; Murray, Jon

doi:10.1093/hmg/1.9.779

Cited by 110 publications

(50 citation statements)

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“…STR polymorphisms were analysed on ABI PRISM 310 Genetic Analyzer (PE Applied Biosystems, Darmstadt, Germany) after coamplification of nine STRs D3S1358/ vWA/FGA, D8S1179/D21S11/D18S51 and D5S818/ D13S317/D7S820 plus the Amelogenin gene [21][22][23][24][25][26][27] with the AmpFlSTR Profilerplus Kit (PE Applied Biosystems, Darmstadt, Germany).…”

Section: Dna Extraction and Str Analysismentioning

confidence: 99%

Reduced intensity conditioning and prophylactic DLI can cure patients with high-risk acute leukaemias if complete donor chimerism can be achieved

Massenkeil

Nagy

Lawang

et al. 2003

Bone Marrow Transplant

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Summary:23 patients with ALL (n ¼ 9) and AML (n ¼ 14) underwent nonmyeloablative stem cell transplantation (NST) from an HLA-identical donor after conditioning with fludarabine (180 mg/m 2 ), busulfan (8 mg/kg) and anti-Tlymphocyte globulin (40 mg/kg). After NST, 20/23 patients engrafted. Ten out of 14 patients with uncontrolled disease reached complete remission. A multiplex-PCR using short tandem repeats was used for chimerism analysis and detected mixed chimerism (MC) in 14/22 evaluable patients (64%) after NST. Prophylactic donor lymphocyte infusions (DLI) were given to 11/14 patients with MC; MC converted to complete donor chimerism (CC) in 6/11 patients within 2-6 weeks. All patients with persistent MC with or without DLI relapsed during further follow-up. MC predicted impending relapse 4-52 weeks before clinical diagnosis. Ten of 23 patients (43%) are alive 2-34 months after stem cell transplantation. 12 of 23 patients (52%), have died from leukaemia after NST. One out of 23 patients has died from severe sepsis. In conclusion, NST leads to stable engraftment and complete remission in patients with advanced acute leukaemias. NST can cure a substantial proportion of these patients, but the relapse rate is still high. Repeated chimerism analysis is a useful tool to detect recipient cells, especially in patients without molecular markers of disease and can be used to monitor immunomodulatory therapies. MC is unstable in these patients and predicts impending relapse. Prophylactic DLI can convert MC to CC, which seemed to lower relapse risk.

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Section: Dna Extraction and Str Analysismentioning

confidence: 99%

Reduced intensity conditioning and prophylactic DLI can cure patients with high-risk acute leukaemias if complete donor chimerism can be achieved

Massenkeil

Nagy

Lawang

et al. 2003

Bone Marrow Transplant

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“…Briefly, 1.25 ng of DNA were subjected to PCR in PE 9600 or 2400 thermocyclers (Perkin-Elmer) in a final volume of 25 l. The tetranucleotide STR loci amplified in this reaction are: D3S1358, 11 vWA, 12 FGA, 13 (all labeled with 5-FAM); TH01, 14 18 (all labeled with NED). In addition, the amelogenin locus was analyzed, which discriminates between X and Y chromosomes (labeled with JOE).…”

Section: Str-amplification and Gel Analysismentioning

confidence: 99%

Rapid quantification of mixed chimerism using multiplex amplification of short tandem repeat markers and fluorescence detection

Thiede

Florek

Bornhäuser

et al. 1999

Bone Marrow Transplant

242

170

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Summary:Monitoring the engraftment of donor cells after allogeneic blood stem cell transplantation (BSCT) may be important for the early diagnosis of graft failure or relapse of disease. Several techniques have been reported for this purpose. PCR-based assays analyzing polymorphic short tandem repeat (STR) markers are attractive because they are sensitive and can be performed rapidly. The intent of the present study was to test a novel approach for the quantification of mixed chimerism using a commercial multiplex STR assay with fluorescence-based detection for forensic purposes. The feasibility of this assay and the accuracy of quantitative results was tested using serial cell mixtures of unrelated individuals. Sample preparation was optimized to obtain information from minute amounts of starting material, eg from patients with aplasia or from sorted cell populations. Using the STR-PCR, discrimination between donor and recipient was possible in all patients analyzed (n = 25). Cell dilution experiments showed a linear correlation between the cell numbers added and the proportions found, with the limit of detection for a minor cell population being 5%. Comparison of values obtained with standard FISH analysis in patients transplanted from sex-mismatched donors showed an excellent correlation with the STR-PCR results. Taken together, this procedure allows the rapid, versatile and accurate quantification of mixed chimerism, even with minuscule numbers of cells. Keywords: chimerism; short-tandem repeats (STR); quantification; PCR; fluorescence detection Allogeneic blood stem cell transplantation is frequently performed in patients with nonmalignant and malignant hematological diseases such as severe aplastic anemia (SAA), severe combined immunodeficiency (SCID), acute and chronic leukemia and lymphoma. Detection of the degree of chimerism after transplantation is an important method for monitoring the engraftment of donor cells and allows early detection of graft failure. This seems to be especially important in patients at risk for graft failure, ie patients Correspondence: C Thiede, Medizinische Klinik und Poliklinik I, Universitätsklinikum Carl Gustav Carus der Technischen Universität, Fetscherstrasse 74, 01307 Dresden, Germany Received 12 September 1998; accepted 4 January 1999 receiving T cell-depleted stem cell grafts from unrelated donors.1 In addition, novel therapeutic approaches like nonmyeloablative stem cell transplantation 2,3 are dependent on rapid information on the degree of mixed chimerism to schedule therapeutic interventions, eg donor lymphocyte infusion (DLI).Several approaches have been published for the detection of chimerism. In sex-mismatched transplantation settings, information on the ratio between donor and recipient can be obtained efficiently and rapidly by using fluorescent in situ hybridization (FISH) with probes specific for X-and Y-chromosome.4,5 PCR-based amplification of a single variable number of tandem repeat (VNTR) or short tandem repeat (STR) markers is another frequently perf...

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“…Haplotype analysis was performed with the use of the following A␣-chain gene polymorphic markers: ␣ Ϫ128 CϾG and ␣ Ϫ58 GϾA polymorphisms (both single-base substitutions), 30 FGA-i3 microsatellite (a TCTT repeat), 31 and TaqI polymorphism (a 28-base pair [bp] duplication). 32 Analyses were carried out as previously described.…”

Section: Haplotype Analysismentioning

confidence: 99%

Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aα-chain gene are not associated with the decay of the mutant mRNAs

Asselta

Duga

Spena

et al. 2001

Blood

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Tetranucleotide repeat polymorphism at the human alpha fibrinogen locus (FGA)

Cited by 110 publications

References 0 publications

Reduced intensity conditioning and prophylactic DLI can cure patients with high-risk acute leukaemias if complete donor chimerism can be achieved

Reduced intensity conditioning and prophylactic DLI can cure patients with high-risk acute leukaemias if complete donor chimerism can be achieved

Rapid quantification of mixed chimerism using multiplex amplification of short tandem repeat markers and fluorescence detection

Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aα-chain gene are not associated with the decay of the mutant mRNAs

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