A Spanish-English glossary of genetics

Gene expressionFollowing on from my recent post on genomics and personalised medicine, here is my personal Spanish-English glossary. It started as a short Excel file a few years ago when I translated a website for a Spanish  company that offers genetic testing services. It has developed over time but enjoyed a growth spurt after the ITI Medical & Pharmaceutical Network workshop in November when we discussed challenging terminology in a Spanish text on pharmacogenomics.

I converted my Excel file to a Multiterm termbase for Studio 2014. If you find the glossary useful,  you’re welcome to copy the table format into Excel and use the SDL OpenExchange Glossary Converter to create a termbase yourself.

Here are the main sources I used for this glossary:

  1. Talking Glossary of Genetic Terms, National Institutes of Health. National Human Genome Research Institute. This has audio snippets from field experts, which really brings the subject to life.
  2. Glosario de términos de genética, Universidad de Navarra
  3. Libro Rojo, Cosnautas
  4. Glossary of the NHS National Genetics and Genomics Education Centre
  5. Human Genome Project glossary. There is also a useful list of acronyms on the HGP website
  6. Glossary of Genetic Terms, Genetics Education Center, University of Kansas Medical Center

The first three are bilingual resources. However, they all have English as the source language. The Talking Glossary makes heavy use of Anglicisms and, in general, that’s what you find in wide use in the Spanish literature. This is also reflected in my glossary, which is largely based on Spanish terms that come up in my source texts. In contrast, Cosnautas – a native Spanish resource – provides more insight into searching for semantically-logical Spanish translations of English terms, so it’s particularly useful for people who translate into Spanish.

To illustrate these differences in practice, here are four challenging English terms that I’ve picked from my glossary. This is how they’ve been translated into Spanish in the three bilingual resources:


Talking Glossary of Genetic Terms

Universidad de Navarra

Libro Rojo

chromosome complement/set

complemento cromosómico

dotación cromosómica

gene knockout


inactivación/ desactivación génica

(genomic) imprinting







And now, switching language direction back to Spanish-English, here is my glossary of genetic terms:

Spanish English
ADN circulante tumoral en plasma circulating free DNA in plasma
ADN mitocondrial mitochondrial DNA
árbol genealógico pedigree chart
biofase site of action
cariotipo karyotype
casete génico gene cassette
codón de terminación stop codon
complemento cromosómico chromosome complement/set
corte y empalme splicing
deriva genética genetic drift
efecto de primer paso first pass effect
electroforesis en gel con campo pulsante pulse-field gel electrophoresis
entrecruzamiento crossing over
epigenética epigenetics
error congénito del metabolismo inborn error of metabolism
escindir cleave
estudio de asociación del genoma completo genome-wide association study (GWAS)
exoma exome
factor de transcripción transcription factor
farmacogenética pharmacogenetics
farmacogenómica pharmacogenomics
gen natural wild-type gene
gen supresor tumoral tumour suppressor gene
genética inversa reverse genetics
genoma microbiana microbial genome
hallazgos secundarios o incidentales incidental results
haplotipo haplotype
hibridación in situ con fluorescencia Fluorescent In Situ Hybridization (FISH)
impronta genética genetic imprinting
inactivación génica gene knockout
isoenzima isoform
marcador genético genetic marker
margen/intervalo terapéutico estrecho narrow therapeutic window
metabolizadores intermedios intermediate metaboliser
metabolizadores lentos poor metabolisers
metabolizadores rápidos extensive metabolisers
metabolizadores ultrarrápidos ultra-rapid metabolisers
metagenómica metagenomics
montaje de secuencias sequence assembly
mutación en la línea germinal germline mutation
mutación por cambio de marco frameshift mutation
mutación somática somatic mutation
nucleótido nucleotide
par de bases base pair
patrimonio genético gene pool
patrones hereditarios patterns of inheritance
plegamiento de proteínas protein folding
polimorfismo polymorphism
polimorfismo de nucleótido único/simple single nucleotide polymorphism (SNP)
polimorfismo mononucleotídico single nucleotide polymorphism (SNP)
probando proband
profármaco pro-drug
Proyecto Genoma Humano Human Genome Project
pruebas directas al consumidor direct-to-consumer testing
reacción de hidrólisis hydrolysis reaction
reacción de óxido-reducción oxidation – reduction reaction
reordenación cromosómica structural rearrangement
repetición en tándem tandem repeat
reportero reporter gene
retrotransposón retroposon
riesgo hereditario offspring risk
secuenciación de última generación next-generation sequencing
sonda probe
tasa de mutación mutation rate
transcripción transcription
transportador de aniones orgánicos organic anion transporter
transportador de cationes orgánicos organic cation transporter
transportadores ABC ABC transporters
variación en el número de copias copy number variation (CNV)
Image attribution: © Alila Medical Media – Fotolia.com
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3 Responses to A Spanish-English glossary of genetics

  1. Pingback: (ES) (EN) – A glossary of genetics | Emma Goldsmith | Glossarissimo!

  2. indextran says:

    Unas gracias tardas para el glosario til que ha compartido.

    Le deseo un ao feliz. 🙂

    Cindy Coan indextran@cox.net PO 12513, Tucson, AZ 85732-2513, USA Tel. +1 (520) 750-8439; cel. +1 (520) 405-8083 Website: http://www.indexingbythebook.com Profile: http://www.proz.com/profile/600510.

    Translating Service: Spanish & Swedish to English INDEXING “BY THE BOOK”

  3. Pingback: A Spanish-English glossary of genetics | Québec-Translation

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