stop gain mutation

Russian translation: нонсенс-мутация

08:27 Aug 25, 2020
English to Russian translations [PRO]
Medical - Genetics / mutations
English term or phrase: stop gain mutation
Results. Notably, we found a de novo stop gain mutation in the capicua (CIC) gene. Using 48 sporadic CFD samples as a validation cohort, we identified three additional rare variants in CIC that are putatively deleterious mutations. Functional analysis indicates that CIC binds to an octameric sequence in the promoter regions of folate transport genes: FOLR1, PCFT and reduced folate carrier (Slc19A1; RFC1).
Artyom Timeyev
Russian Federation
Local time: 21:28
Russian translation:нонсенс-мутация
Explanation:
букв. мутация, приводящая к появлению [преждевременного] стоп-кодона

подробнее можно читать здесь
https://ru.wikipedia.org/wiki/Нонсенс-мутация
https://biomolecula.ru/articles/kak-nonsens-mutatsii-gen-obi...

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Note added at 49 mins (2020-08-25 09:17:36 GMT)
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The present study reports the identification of a stop-gain (nonsense) mutation in the apoptosis peptide activating factor 1 gene (APAF1) carried on the this bull’s HH1 haplotype that is the likely mutation causing reduced conception rate in the Holstein population.
https://www.sciencedirect.com/science/article/pii/S002203021...
Selected response from:

Igor Andreev
Local time: 18:28
Grading comment
Спасибо!
4 KudoZ points were awarded for this answer



Summary of answers provided
4нонсенс-мутация
Igor Andreev


  

Answers


48 mins   confidence: Answerer confidence 4/5Answerer confidence 4/5
нонсенс-мутация


Explanation:
букв. мутация, приводящая к появлению [преждевременного] стоп-кодона

подробнее можно читать здесь
https://ru.wikipedia.org/wiki/Нонсенс-мутация
https://biomolecula.ru/articles/kak-nonsens-mutatsii-gen-obi...

--------------------------------------------------
Note added at 49 mins (2020-08-25 09:17:36 GMT)
--------------------------------------------------

The present study reports the identification of a stop-gain (nonsense) mutation in the apoptosis peptide activating factor 1 gene (APAF1) carried on the this bull’s HH1 haplotype that is the likely mutation causing reduced conception rate in the Holstein population.
https://www.sciencedirect.com/science/article/pii/S002203021...

Igor Andreev
Local time: 18:28
Specializes in field
Native speaker of: Native in RussianRussian
PRO pts in category: 112
Grading comment
Спасибо!
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