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POINT MUTATION [8 records]
Record 1 - internal organization data 2024-07-31
Record 1, English
Record 1, Subject field(s)
- Genetics
- Blood
Record 1, Main entry term, English
- sickle cell hemoglobin
1, record 1, English, sickle%20cell%20hemoglobin
correct
Record 1, Abbreviations, English
- HbS 1, record 1, English, HbS
correct
Record 1, Synonyms, English
- sickle hemoglobin 2, record 1, English, sickle%20hemoglobin
correct
- HbS 2, record 1, English, HbS
correct
- HbS 2, record 1, English, HbS
- hemoglobin S 3, record 1, English, hemoglobin%20S
correct
- HbS 3, record 1, English, HbS
correct
- HbS 3, record 1, English, HbS
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
Sickle cell hemoglobin(HbS) is a hemoglobin(Hb) variant characterized by point mutation causing replacement of glutamic acid by valine at position 6 of the β globin chain, which results in sickling phenomenon in low oxygen states, acidosis, and dehydration. 1, record 1, English, - sickle%20cell%20hemoglobin
Record 1, Key term(s)
- sickle-cell hemoglobin
- sickle cell haemoglobin
- sickle-cell haemoglobin
- sickle haemoglobin
- haemoglobin S
Record 1, French
Record 1, Domaine(s)
- Génétique
- Sang
Record 1, Main entry term, French
- hémoglobine drépanocytaire
1, record 1, French, h%C3%A9moglobine%20dr%C3%A9panocytaire
correct, feminine noun
Record 1, Abbreviations, French
- HbS 1, record 1, French, HbS
correct, feminine noun
Record 1, Synonyms, French
- hémoglobine S 2, record 1, French, h%C3%A9moglobine%20S
correct, feminine noun
- HbS 3, record 1, French, HbS
correct, feminine noun
- HbS 3, record 1, French, HbS
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
La production d'une hémoglobine mutée appelée hémoglobine S (HbS) est à l'origine de nombreuses complications. Cette HbS a la particularité de polymériser en conditions désoxygénées engendrant la falciformation des globules rouges. 3, record 1, French, - h%C3%A9moglobine%20dr%C3%A9panocytaire
Record number: 1, Textual support number: 1 OBS
hémoglobine S : Dans cette désignation, l'abréviation «S» provient du mot anglais «sickle» qui signifie «faucille». 4, record 1, French, - h%C3%A9moglobine%20dr%C3%A9panocytaire
Record 1, Spanish
Record 1, Textual support, Spanish
Record 2 - internal organization data 2012-10-15
Record 2, English
Record 2, Subject field(s)
- Seed Plants (Spermatophyta)
- Silviculture
- Landscape Architecture
Record 2, Main entry term, English
- weeping tree
1, record 2, English, weeping%20tree
correct
Record 2, Abbreviations, English
Record 2, Synonyms, English
Record 2, Textual support, English
Record number: 2, Textual support number: 1 DEF
A tree having graceful, dropping or hanging branches. 2, record 2, English, - weeping%20tree
Record number: 2, Textual support number: 1 CONT
Plants with limbs that grow down, instead of up, can be spectacular. Horticulturally, the reason for this growth habit is a genetic mutation. Most plants have a central growth point that remains dominant, and the trunk and limbs grow vertically. In the weeping tree category, this growth control is interrupted. The new layer of growth is somehow superimposed over the previous layer, and is more horizontal than vertical. This growth pattern is known as plagiotropism. 1, record 2, English, - weeping%20tree
Record 2, French
Record 2, Domaine(s)
- Plantes à graines (Spermatophyta)
- Sylviculture
- Architecture paysagère
Record 2, Main entry term, French
- arbre pleureur
1, record 2, French, arbre%20pleureur
correct, masculine noun
Record 2, Abbreviations, French
Record 2, Synonyms, French
- arbre prostré 2, record 2, French, arbre%20prostr%C3%A9
correct, masculine noun
- arbre à port prostré 2, record 2, French, arbre%20%C3%A0%20port%20prostr%C3%A9
correct, masculine noun
Record 2, Textual support, French
Record number: 2, Textual support number: 1 CONT
[...] l'arbre prostré, dont les rameaux tombent vers le sol. 2, record 2, French, - arbre%20pleureur
Record number: 2, Textual support number: 2 CONT
Arbres à port prostré. Saule de Babylone, Cèdre de l'Atlas pleureur, Bouleau pleureur, Cerisier pleureur, Frêne pleureur, Hêtre pleureur, Sophora pleureur, Orme des montagnes pleureur, Ginkgo pleureur. 2, record 2, French, - arbre%20pleureur
Record 2, Spanish
Record 2, Textual support, Spanish
Record 3 - internal organization data 2012-09-28
Record 3, English
Record 3, Subject field(s)
- Genetics
Record 3, Main entry term, English
- point mutation
1, record 3, English, point%20mutation
correct
Record 3, Abbreviations, English
Record 3, Synonyms, English
Record 3, Textual support, English
Record number: 3, Textual support number: 1 DEF
A mutation that can be mapped to one specific locus. 2, record 3, English, - point%20mutation
Record number: 3, Textual support number: 1 OBS
It can take two forms: the substitution of a single base pair, and the insertion or deletion of a single base pair. 2, record 3, English, - point%20mutation
Record 3, French
Record 3, Domaine(s)
- Génétique
Record 3, Main entry term, French
- mutation ponctuelle
1, record 3, French, mutation%20ponctuelle
correct, feminine noun, standardized
Record 3, Abbreviations, French
Record 3, Synonyms, French
Record 3, Textual support, French
Record number: 3, Textual support number: 1 DEF
Mutation de structure portant sur une seule base (substitution d'une base par une autre). [Définition normalisée par l'AFNOR et reproduite avec son autorisation.] 2, record 3, French, - mutation%20ponctuelle
Record number: 3, Textual support number: 1 OBS
On distingue deux classes de mutations ponctuelles : celles ne modifiant qu'un seul codon et celles qui modifient le cadre de lecture. Ce type de mutation est réversible. [Observation reproduite avec l'autorisation de l'AFNOR.] 2, record 3, French, - mutation%20ponctuelle
Record number: 3, Textual support number: 2 OBS
mutation ponctuelle : terme normalisé par l'AFNOR. 3, record 3, French, - mutation%20ponctuelle
Record 3, Spanish
Record 3, Campo(s) temático(s)
- Genética
Record 3, Main entry term, Spanish
- mutación puntual
1, record 3, Spanish, mutaci%C3%B3n%20puntual
correct, feminine noun
Record 3, Abbreviations, Spanish
Record 3, Synonyms, Spanish
Record 3, Textual support, Spanish
Record number: 3, Textual support number: 1 DEF
Cambio en la secuencia de ADN en un locus específico. 2, record 3, Spanish, - mutaci%C3%B3n%20puntual
Record number: 3, Textual support number: 1 OBS
El cambio más pequeño viene dado por la sustitución, deleción o inserción de un único nucleótido. 2, record 3, Spanish, - mutaci%C3%B3n%20puntual
Record 4 - internal organization data 2012-09-18
Record 4, English
Record 4, Subject field(s)
- Genetics
Record 4, Main entry term, English
- reading frame
1, record 4, English, reading%20frame
correct
Record 4, Abbreviations, English
Record 4, Synonyms, English
Record 4, Textual support, English
Record number: 4, Textual support number: 1 DEF
The division of the nucleotide sequence of a nucleic acid into consecutive three-nucleotide codons. 1, record 4, English, - reading%20frame
Record number: 4, Textual support number: 1 OBS
There are three different frames(starting a codon with the first, second, or third nucleotide). Generally, only one frame encodes a polypeptide; this frame is specified by the location of the initiation codon of the polypeptide. The deletion or addition of a nucleotide throws off the frame after that point, making non-sense of the remaining code; this is called a frameshift mutation. 1, record 4, English, - reading%20frame
Record 4, French
Record 4, Domaine(s)
- Génétique
Record 4, Main entry term, French
- phase de lecture
1, record 4, French, phase%20de%20lecture
correct, feminine noun
Record 4, Abbreviations, French
Record 4, Synonyms, French
- cadre de lecture 2, record 4, French, cadre%20de%20lecture
correct, masculine noun
Record 4, Textual support, French
Record number: 4, Textual support number: 1 DEF
Division d'une séquence de nucléotides en triplets consécutifs. 3, record 4, French, - phase%20de%20lecture
Record number: 4, Textual support number: 1 OBS
Elle est déterminée à partir de l'endroit où commence la lecture du brin. Si la phase vient à être perturbée par l'insertion ou l'enlèvement de base, le sens de l'information génétique s'en trouve modifié. On peut rétablir la phase, soit en introduisant le décalage inverse, soit en accumulant trois fois le même type de mutation. 3, record 4, French, - phase%20de%20lecture
Record 4, Spanish
Record 4, Campo(s) temático(s)
- Genética
Record 4, Main entry term, Spanish
- marco de lectura
1, record 4, Spanish, marco%20de%20lectura
correct, masculine noun
Record 4, Abbreviations, Spanish
Record 4, Synonyms, Spanish
Record 4, Textual support, Spanish
Record number: 4, Textual support number: 1 DEF
[División de] los grupos de tres nucleótidos que se leen como tripletes (codones) en la transcripción del ADN. 1, record 4, Spanish, - marco%20de%20lectura
Record number: 4, Textual support number: 1 OBS
El punto de partida lo fija normalmente el codón de iniciación, AUG. Así, la secuencia AUGGCAAAA, guaninase leerá como AUG/GCA/AAA y no como A/UGC/CAA/AA. [En donde A=adenina, C=citosina, G=guanina, U=uracilo] 1, record 4, Spanish, - marco%20de%20lectura
Record 5 - internal organization data 2012-03-16
Record 5, English
Record 5, Subject field(s)
- Genetics
Record 5, Main entry term, English
- insertion
1, record 5, English, insertion
correct
Record 5, Abbreviations, English
Record 5, Synonyms, English
- insertional translocation 2, record 5, English, insertional%20translocation
correct
- intercalation 3, record 5, English, intercalation
correct
Record 5, Textual support, English
Record number: 5, Textual support number: 1 DEF
Intercalary incorporation of a fragment of one chromosome in a non-terminal position in a non-homologous chromosome; such an event requires three breaks. 3, record 5, English, - insertion
Record number: 5, Textual support number: 1 CONT
The stable types of aberration are deletions, duplications, inversions, translocations, insertions and isochromosomes. 3, record 5, English, - insertion
Record number: 5, Textual support number: 2 CONT
Insertions involve the acquisition of extra nucleotides. Deletion and insertion may affect only one chromatid(point mutation), but they usually affect several nucleotides in the sequence. 3, record 5, English, - insertion
Record 5, French
Record 5, Domaine(s)
- Génétique
Record 5, Main entry term, French
- insertion
1, record 5, French, insertion
correct, feminine noun, standardized
Record 5, Abbreviations, French
Record 5, Synonyms, French
Record 5, Textual support, French
Record number: 5, Textual support number: 1 DEF
Addition d'une séquence d'ADN ou de plusieurs bases dans une chaîne d'acides nucléiques. [Définition normalisée par l'AFNOR et reproduite avec son autorisation.] 2, record 5, French, - insertion
Record number: 5, Textual support number: 1 CONT
Les types suivants de translocation consistent dans le transfert d'un segment intercalaire soit sur le même chromosome (glissement) soit sur un autre chromosome (insertion). 3, record 5, French, - insertion
Record number: 5, Textual support number: 2 CONT
L'insertion implique l'acquisition de nucléotides supplémentaires. Délétion et insertion peuvent n'affecter qu'un seul nucléotide (mutation ponctuelle), mais elles portent plus fréquemment sur plusieurs nucléotides de la séquence. 3, record 5, French, - insertion
Record number: 5, Textual support number: 1 OBS
insertion : terme normalisé par l'AFNOR. 4, record 5, French, - insertion
Record 5, Spanish
Record 5, Campo(s) temático(s)
- Genética
Record 5, Main entry term, Spanish
- inserción
1, record 5, Spanish, inserci%C3%B3n
correct, feminine noun
Record 5, Abbreviations, Spanish
Record 5, Synonyms, Spanish
- translocación de inserción 1, record 5, Spanish, translocaci%C3%B3n%20de%20inserci%C3%B3n
correct, feminine noun
Record 5, Textual support, Spanish
Record 6 - internal organization data 2010-10-28
Record 6, English
Record 6, Subject field(s)
- Genetics
Record 6, Main entry term, English
- transversional mutation
1, record 6, English, transversional%20mutation
correct
Record 6, Abbreviations, English
Record 6, Synonyms, English
Record 6, Textual support, English
Record number: 6, Textual support number: 1 DEF
Second type of point mutation, resulting from the replacement of a purine-pyrimidine pair by a pyrimidine-purine one. 1, record 6, English, - transversional%20mutation
Record 6, French
Record 6, Domaine(s)
- Génétique
Record 6, Main entry term, French
- mutation par transversion
1, record 6, French, mutation%20par%20transversion
correct, feminine noun
Record 6, Abbreviations, French
Record 6, Synonyms, French
Record 6, Textual support, French
Record number: 6, Textual support number: 1 DEF
Deuxième type de mutation ponctuelle qui résulte du remplacement d'une paire purine-pyrimidine par une paire pyrimidine-purine. 1, record 6, French, - mutation%20par%20transversion
Record number: 6, Textual support number: 1 CONT
Dans les mutations par transversion, une paire purine-pyrimidine est remplacée par une paire pyrimidine-purine. 1, record 6, French, - mutation%20par%20transversion
Record 6, Spanish
Record 6, Campo(s) temático(s)
- Genética
Record 6, Main entry term, Spanish
- mutación transversional
1, record 6, Spanish, mutaci%C3%B3n%20transversional
correct, feminine noun
Record 6, Abbreviations, Spanish
Record 6, Synonyms, Spanish
- mutación por transversion 2, record 6, Spanish, mutaci%C3%B3n%20por%20transversion
correct, feminine noun
Record 6, Textual support, Spanish
Record 7 - internal organization data 2006-02-14
Record 7, English
Record 7, Subject field(s)
- Microbiology and Parasitology
Record 7, Main entry term, English
- bacterial variation
1, record 7, English, bacterial%20variation
correct
Record 7, Abbreviations, English
Record 7, Synonyms, English
Record 7, Textual support, English
Record number: 7, Textual support number: 1 CONT
A critical point to discuss here is that virulence and/or antibiotic treatment might increase the rate of bacterial variation. In the case of infection, this situation might contribute to increased mutation rates... and even to the selection of hypermutator strains... thus enhancing antibiotic resistance mutation. 2, record 7, English, - bacterial%20variation
Record 7, French
Record 7, Domaine(s)
- Microbiologie et parasitologie
Record 7, Main entry term, French
- variation bactérienne
1, record 7, French, variation%20bact%C3%A9rienne
correct, feminine noun
Record 7, Abbreviations, French
Record 7, Synonyms, French
Record 7, Textual support, French
Record number: 7, Textual support number: 1 DEF
Modification progressive et non transmissible (adaptation au milieu) ou modification brusque et transmissible (mutation) qui peut concerner l'aspect des colonies, l'équipement enzymatique, la constitution antigénique, la sensibilité aux bactériophages ou aux antibiotiques, le pouvoir pathogène. 1, record 7, French, - variation%20bact%C3%A9rienne
Record 7, Spanish
Record 7, Textual support, Spanish
Record 8 - internal organization data 2003-02-07
Record 8, English
Record 8, Subject field(s)
- Genetics
Record 8, Main entry term, English
- zero point mutation 1, record 8, English, zero%20point%20mutation
Record 8, Abbreviations, English
Record 8, Synonyms, English
Record 8, French
Record 8, Domaine(s)
- Génétique
Record 8, Main entry term, French
- mutation de point zéro
1, record 8, French, mutation%20de%20point%20z%C3%A9ro
feminine noun
Record 8, Abbreviations, French
Record 8, Synonyms, French
Record 8, Textual support, French
Record 8, Spanish
Record 8, Campo(s) temático(s)
- Genética
Record 8, Main entry term, Spanish
- mutación de punto cero
1, record 8, Spanish, mutaci%C3%B3n%20de%20punto%20cero
feminine noun
Record 8, Abbreviations, Spanish
Record 8, Synonyms, Spanish
Record 8, Textual support, Spanish
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