Glossary entry (derived from question below)
español term or phrase:
mutaciones puntuales
inglés translation:
point mutations
Added to glossary by
Joseph Tein
Jan 24, 2010 22:01
14 yrs ago
11 viewers *
español term
Estados Unidos
Multilingual. Very careful & precise.
Native in: inglés 
Works in: español al inglés, italiano al inglés
mutaciones puntuales
español al inglés
Medicina
Medicina (general)
genetic disease
This phrase appears in an article describing a genetic mutation that leads to resistance to thyroid hormone in the pituitary gland ('Resistencia hipofisaria a las hormonas tiroideas)'. The sentence I'm having trouble with says:
"La resistencia hipofisaria aislada, en su mayoría, se produce debido a *mutaciones puntuales* inactivantes del gen que codifica las isoformas ... del receptor de las hormonas ..."
I've had trouble with this word 'puntual' before ... and I'm also not an expert in genetics. I appreciate your suggestions for how to translate it in this context.
Muchísimas gracias por la ayuda.
"La resistencia hipofisaria aislada, en su mayoría, se produce debido a *mutaciones puntuales* inactivantes del gen que codifica las isoformas ... del receptor de las hormonas ..."
I've had trouble with this word 'puntual' before ... and I'm also not an expert in genetics. I appreciate your suggestions for how to translate it in this context.
Muchísimas gracias por la ayuda.
Proposed translations
(inglés)
| 3 +5 | point mutations |
Zareh Darakjian Ph.D.
|
| 4 +5 | specific mutations |
Karin Kutscher
|
| 4 +1 | point mutation |
Yvonne Becker
|
References
| Mutaciones puntuales |
ARS54
|
Proposed translations
+5
14 minutos
Zareh Darakjian Ph.D.
Estados Unidos
Estados Unidos
Native in inglés
Specializes in field
Estados Unidos
A scientist, pianist and a translator
Native in: inglés , armenio
Works in: alemán al inglés, francés al inglés, español al inglés, and 2 more.
Related KudoZ points
:
155
Selected
point mutations
A single base pair mutation.
http://www.genetichealth.com/g101_changes_in_dna.shtml
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Note added at 16 mins (2010-01-24 22:17:29 GMT)
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http://www.liebertonline.com/doi/pdf/10.1089/105072503321669...
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Note added at 17 mins (2010-01-24 22:18:55 GMT)
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6. Takeda K, Balzano S, Sakurai A, DeGroot LG, Refetoff S 1991
Screening of nineteen unrelated families with generalized
**resistance to thyroid hormone for known **point mutations** in
the thyroid hormone receptor b gene and the detection of a
new mutation. J Clin Invest 87:496–502.
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Note added at 28 mins (2010-01-24 22:29:34 GMT)
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I base my answer on the fact that hormone receptor genetic defects are due to ** point mutations **. Point mutation is a scientific term; it does not imply "specific". It is used for referring to a single base pair mutation. I would think that that is what the reference here is to. That's what **significant** in the context of a genetic disease.
http://www.genetichealth.com/g101_changes_in_dna.shtml
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Note added at 16 mins (2010-01-24 22:17:29 GMT)
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http://www.liebertonline.com/doi/pdf/10.1089/105072503321669...
--------------------------------------------------
Note added at 17 mins (2010-01-24 22:18:55 GMT)
--------------------------------------------------
6. Takeda K, Balzano S, Sakurai A, DeGroot LG, Refetoff S 1991
Screening of nineteen unrelated families with generalized
**resistance to thyroid hormone for known **point mutations** in
the thyroid hormone receptor b gene and the detection of a
new mutation. J Clin Invest 87:496–502.
--------------------------------------------------
Note added at 28 mins (2010-01-24 22:29:34 GMT)
--------------------------------------------------
I base my answer on the fact that hormone receptor genetic defects are due to ** point mutations **. Point mutation is a scientific term; it does not imply "specific". It is used for referring to a single base pair mutation. I would think that that is what the reference here is to. That's what **significant** in the context of a genetic disease.
4 KudoZ points awarded for this answer.
Comment: "Thank you Zareh!"
+5
5 minutos
Karin Kutscher
Native in español
Specializes in field
ATA Cert Eng>Spa, IT, Medical, Telcom
Native in: español
Works in: inglés al español, español al inglés
Related KudoZ points
:
20
specific mutations
In my view, they just want to convey that those are some *specific", defined, clearly established mutations.
Note from asker:
| Thank you also, Karin, for your suggestion. |
Peer comment(s):
| agree |
Muriel Vasconcellos
0 minuto
|
| agree |
Leonardo Lamarche
: agree.
16 minutos
|
| agree |
Maria Mastruzzo
39 minutos
|
| agree |
Laura Gómez
43 minutos
|
| agree |
Monserrat Calzada
3632 días
|
+1
16 minutos
Yvonne Becker
Native in español
Works in field
Also an Engineer
Native in: español (Variant: Venezuelan)
Works in: inglés al español, español al inglés, español
Related KudoZ points
:
67
point mutation
No estoy 100% segura, pero lo tengo en un glosario inglés-español que tomé de Panace@ hace algún tiempo sobre bioquímica y afines. Uno de los autores era Verónica Saladrigas
Point mutation - Wikipedia, the free encyclopedia - [ Traducir esta página ]A point mutation, or single base substitution, is a type of mutation that causes the replacement of a single base nucleotide with another nucleotide of the ...
en.wikipedia.org/wiki/Point_mutation - En caché - Similares -
Point mutation - Glossary Entry - Genetics Home Reference - [ Traducir esta página ]A point mutation is when a single base pair is altered. Point mutations can have one of three effects. First, the base substitution can be a silent mutation ...
ghr.nlm.nih.gov/glossary=pointmutation - En caché - Similares -
point mutation (genetics) -- Britannica Online Encyclopedia - [ Traducir esta página ]Britannica online encyclopedia article on point mutation (genetics), change within a gene in which one base pair in the DNA sequence is altered.
www.britannica.com/EBchecked/.../point-mutation - En caché - Similares -
SINGLE-POINT-MUTATION-IN-TICK-BORNE-ENCEPHALITIS-VIRUS-PRM-PROTEIN ...SINGLE POINT MUTATION IN TICK-BORNE ENCEPHALITIS VIRUS PRM PROTEIN INDUCES A REDUCTION OF VIRUS PARTICLE SECRETION.
biblioteca.universia.net/html_bura/ficha/.../5709612.html - En caché -
point mutation - traducción de español - Diccionario Inglés ...Traducción de 'point mutation' en el diccionario gratuito de español. Más traducciones en español para: up promoter mutation, nonsense mutation, frame-shift ...
es.bab.la › Diccionario › Inglés-Español - En caché -
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Note added at 24 mins (2010-01-24 22:25:28 GMT)
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Of course, I should have posted the term in plural, as in your question: "point mutations". While I searched for references, however, Zareh had already made the same suggestion. Good luck!
Point mutation - Wikipedia, the free encyclopedia - [ Traducir esta página ]A point mutation, or single base substitution, is a type of mutation that causes the replacement of a single base nucleotide with another nucleotide of the ...
en.wikipedia.org/wiki/Point_mutation - En caché - Similares -
Point mutation - Glossary Entry - Genetics Home Reference - [ Traducir esta página ]A point mutation is when a single base pair is altered. Point mutations can have one of three effects. First, the base substitution can be a silent mutation ...
ghr.nlm.nih.gov/glossary=pointmutation - En caché - Similares -
point mutation (genetics) -- Britannica Online Encyclopedia - [ Traducir esta página ]Britannica online encyclopedia article on point mutation (genetics), change within a gene in which one base pair in the DNA sequence is altered.
www.britannica.com/EBchecked/.../point-mutation - En caché - Similares -
SINGLE-POINT-MUTATION-IN-TICK-BORNE-ENCEPHALITIS-VIRUS-PRM-PROTEIN ...SINGLE POINT MUTATION IN TICK-BORNE ENCEPHALITIS VIRUS PRM PROTEIN INDUCES A REDUCTION OF VIRUS PARTICLE SECRETION.
biblioteca.universia.net/html_bura/ficha/.../5709612.html - En caché -
point mutation - traducción de español - Diccionario Inglés ...Traducción de 'point mutation' en el diccionario gratuito de español. Más traducciones en español para: up promoter mutation, nonsense mutation, frame-shift ...
es.bab.la › Diccionario › Inglés-Español - En caché -
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Note added at 24 mins (2010-01-24 22:25:28 GMT)
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Of course, I should have posted the term in plural, as in your question: "point mutations". While I searched for references, however, Zareh had already made the same suggestion. Good luck!
Note from asker:
| Gracias también Yvonne por tu aportación y por responder cuando te pedí ayuda. |
Reference comments
1 hora
Reference:
Mutaciones puntuales
Mutaciones puntuales. Estas son mutaciones en las cuales un par de bases remplaza a otro, ... Las mutaciones puntuales son generadas por bases alteradas ...
www.laguna.fmedic.unam.mx/.../mutaciones puntuales.html
Mutaciones puntuales. Cubren una variedad de mutaciones desde cambios genuinos en un par de bases hasta pequeñas deleciones e inserciones. ...
www.uvigen.fcien.edu.uy/utem/camgen/02mut.htm
http://www.google.it/search?hl=it&ei=5dlcS5_SF4Kf_AatnrmeDA&...
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Note added at 1 ora (2010-01-24 23:45:54 GMT)
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...And see HERE =>>
http://www.proz.com/kudoz/english_to_spanish/genetics/119821...
mutación puntual - English translation - bab.la Spanish-English ... - [ Traduci questa pagina ]Translation for 'mutación puntual' in the free English dictionary. More English translations for: ... mutación puntual {f} [biol.] speak point mutation ...
www.en.bab.la/dictionary/spanish.../mutación puntual.html
http://www.google.it/search?hl=it&q="mutacion puntual" "poin...
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Note added at 2 ore (2010-01-25 00:39:34 GMT)
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...per così poco, Joseph, :) Buon lavoro! Anna Rosa
www.laguna.fmedic.unam.mx/.../mutaciones puntuales.html
Mutaciones puntuales. Cubren una variedad de mutaciones desde cambios genuinos en un par de bases hasta pequeñas deleciones e inserciones. ...
www.uvigen.fcien.edu.uy/utem/camgen/02mut.htm
http://www.google.it/search?hl=it&ei=5dlcS5_SF4Kf_AatnrmeDA&...
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Note added at 1 ora (2010-01-24 23:45:54 GMT)
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...And see HERE =>>
http://www.proz.com/kudoz/english_to_spanish/genetics/119821...
mutación puntual - English translation - bab.la Spanish-English ... - [ Traduci questa pagina ]Translation for 'mutación puntual' in the free English dictionary. More English translations for: ... mutación puntual {f} [biol.] speak point mutation ...
www.en.bab.la/dictionary/spanish.../mutación puntual.html
http://www.google.it/search?hl=it&q="mutacion puntual" "poin...
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Note added at 2 ore (2010-01-25 00:39:34 GMT)
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...per così poco, Joseph, :) Buon lavoro! Anna Rosa
Note from asker:
| Ciao Anna Rosa. Grazie 10,000 :) |
Peer comments on this reference comment:
| agree |
Zareh Darakjian Ph.D.
: Yes, Anna Rosa. Those are very helpful and very beautiful references.. impressive indeed!
2 horas
|
|
Thanks a lot, Doc, :-) ARS
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