Phenotyping of Arabidopsis Mutants for Developmental Effects of Gene Deletions

SummaryScreening of restriction erzyme digested DNA from normal and protein C deficient individuals with a variety of probes derived from the protein C locus has revealed the existence of two neutral MspI polymorphism. One polymorphism (MI), which is located ≈7 kb upstream of the protein C gene, has allelic frequencies of 69 and 31%, and was used to exclude extensive gene deletions as a likely cause of type I protein C deficiency in 50% of cases in a panel of 22 families. Furtherrnore, the same polymorphism has been used in 5 doubly affected individuals establishing compound heterozygosity in 3 of these.The second, intragenic, polymorphism (MII) has allelic frequencies of 99 and 1% in the normal population. The frequency of the rare allele of this RFLP was with 7% much higher in a panel of 22 Dutch families with protein C deficiency. Interestingly, in all three probands that were heterozygous for MII the rare allele of MII coincided with a point mutation that leads to a stop codon in amino acid position 306 of the protein C coding sequence. This mutation may account for 14% of the protein C deficient individuals in The Netherlands.

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Characterization of Partial Gene Deletions in Type III von Willebrand Disease with Alloantibody Inhibitors

Thrombosis and Haemostasis ◽

10.1055/s-0038-1648835 ◽

1994 ◽

Vol 72 (02) ◽

pp. 180-185 ◽

Cited By ~ 22

Author(s):

David J Mancuso ◽

Elodee A Tuley ◽

Ricardo Castillo ◽

Norma de Bosch ◽

Pler M Mannucci ◽

...

Keyword(s):

Von Willebrand Factor ◽

Von Willebrand Disease ◽

Pcr Analysis ◽

Gene Deletions ◽

Factor Gene ◽

Type Iii ◽

Large Deletions ◽

Von Willebrand ◽

Willebrand Factor

Summaryvon Willebrand factor gene deletions were characterized in four patients with severe type III von Willebrand disease and alloantibodies to von Willebrand factor. A PCR-based strategy was used to characterize the boundaries of the deletions. Identical 30 kb von Willebrand factor gene deletions which include exons 33 through 38 were identified in two siblings of one family by this method. A small 5 base pair insertion (CCTGG) was sequenced at the deletion breakpoint. PCR analysis was used to detect the deletion in three generations of the family, including two family members who are heterozygous for the deletion. In a second family, two type III vWD patients, who are distant cousins, share an -56 kb deletion of exons 22 through 43. The identification and characterization of large vWF gene deletions in these type III vWD patients provides further support for the association between large deletions in both von Willebrand factor alleles and the development of inhibitory alloantibodies.

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MUSIC PERCEPTION OF THE BRAIN AND ITS DEVELOPMENTAL EFFECTS

SOCIAL MENTALITY AND RESEARCHER THINKERS JOURNAL ◽

10.31576/smryj.612 ◽

2020 ◽

Vol 6 (35) ◽

pp. 1622-1628

Author(s):

Zeynep Ebru AYATA

Keyword(s):

Music Perception ◽

Developmental Effects ◽

The Brain

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Faculty Opinions recommendation of Identification of Arabidopsis mutants impaired in the systemic regulation of root nitrate uptake by the nitrogen status of the plant.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.3241956.2927055 ◽

2010 ◽

Author(s):

Brian Forde

Keyword(s):

Nitrate Uptake ◽

Nitrogen Status ◽

Arabidopsis Mutants

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No evidence of false-negative Plasmodium falciparum rapid diagnostic results in Monrovia, Liberia

Malaria Journal ◽

10.1186/s12936-021-03774-3 ◽

2021 ◽

Vol 20 (1) ◽

Author(s):

Mandella King ◽

Alexander E. George ◽

Pau Cisteró ◽

Christine K. Tarr-Attia ◽

Beatriz Arregui ◽

...

Keyword(s):

Plasmodium Falciparum ◽

False Negative ◽

Malaria Diagnosis ◽

Rapid Diagnostic Tests ◽

Molecular Testing ◽

False Negatives ◽

Gene Deletions ◽

History Of ◽

Catholic Hospital ◽

Or History

Abstract Background Malaria diagnosis in many malaria-endemic countries relies mainly on the use of rapid diagnostic tests (RDTs). The majority of commercial RDTs used in Africa detect the Plasmodium falciparum histidine-rich protein 2 (PfHRP2). pfhrp2/3 gene deletions can therefore lead to false-negative RDT results. This study aimed to evaluate the frequency of PCR-confirmed, false-negative P. falciparum RDT results in Monrovia, Liberia. Methods PfHRP2-based RDT (Paracheck Pf®) and microscopy results from 1038 individuals with fever or history of fever (n = 951) and pregnant women at first antenatal care (ANC) visit (n = 87) enrolled in the Saint Joseph’s Catholic Hospital (Monrovia) from March to July 2019 were used to assess the frequency of false-negative RDT results. True–false negatives were confirmed by detecting the presence of P. falciparum DNA by quantitative PCR in samples from individuals with discrepant RDT and microscopy results. Samples that were positive by 18S rRNA qPCR but negative by PfHRP2-RDT were subjected to multiplex qPCR assay for detection of pfhrp2 and pfhrp3. Results One-hundred and eighty-six (19.6%) and 200 (21.0%) of the 951 febrile participants had a P. falciparum-positive result by RDT and microscopy, respectively. Positivity rate increased with age and the reporting of joint pain, chills and shivers, vomiting and weakness, and decreased with the presence of coughs and nausea. The positivity rate at first ANC visit was 5.7% (n = 5) and 8% (n = 7) by RDT and microscopy, respectively. Out of 207 Plasmodium infections detected by microscopy, 22 (11%) were negative by RDT. qPCR confirmed absence of P. falciparum DNA in the 16 RDT-negative but microscopy-positive samples which were available for molecular testing. Among the 14 samples that were positive by qPCR but negative by RDT and microscopy, 3 only amplified pfldh, and among these 3 all were positive for pfhrp2 and pfhrp3. Conclusion There is no qPCR-confirmed evidence of false-negative RDT results due to pfhrp2/pfhrp3 deletions in this study conducted in Monrovia (Liberia). This indicates that these deletions are not expected to affect the performance of PfHRP2-based RDTs for the diagnosis of malaria in Liberia. Nevertheless, active surveillance for the emergence of PfHRP2 deletions is required.

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