This question was closed without grading. Reason: Answer found elsewhere
Apr 10, 2011 21:13
13 yrs ago
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Spanish term

estudio de informatividad

Spanish to English Medical Medical (general) hospital website
• Detección de reordenamientos cromosómicos
¿Cuándo está indicada?
Cuando tenemos constancia de la presencia de translocaciones cromosómicas equilibradas en alguno de los miembros de una pareja, ya que esto se traduce en un riesgo elevado de presentar alteraciones cromosómicas de forma desequilibrada en la descendencia, dando lugar a abortos, o a recién nacidos con graves deficiencias o malformaciones. Previamente se realiza un estudio de informatividad en sangre a la pareja.

This is part of an extract describing the procedure of pre-implantation genetic diagnosis - tests done on couples who have genetic conditions or are carriers of them, and who are at risk of passing them on to their offspring. The tests are done prior to deciding which assisted reproduction techniques to use.

I found informativity as a translation of informatividad on the iate website under medical science but I can not find any reference to informativity studies on the web.

Thanks in advance!

Proposed translations

+1
15 mins

informativity study (or analysis)

Ref1:
The next step is to undertake an informativity study. To this end, we only need a blood sample from the partners (and, if possible, of family members known to carry or be affected by the disease).

Ref2:
Definition of INFORMATIVITY: Para un marcador genético, la probabilidad de que un descendiente de una pareja sea informativo, es decir, que se pueda deducir el origen parental de cada uno de los alelos de ese locus
Peer comment(s):

agree ARS54 : ...yes, good research, :-) / The term is widely accepted in the official med lit
1 hr
Thanks, AR
neutral liz askew : Trouble is no bona fide native English references for this, and I think we English natives would be scratching our heads here, me included:)
11 hrs
Good point, liz. My refs are translations of Spanish websites, and I was scratching my head until I saw wthe def'n of informativity. Native refs: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2719074/ , http://www.freepatentsonline.com/WO2009034199.html
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26 mins

(study) informative for parental origin

informatividad: Para un marcador genético, la probabilidad de que un descendiente de una pareja sea informativo, es decir, que se pueda deducir el origen parental de cada uno de los alelos de ese locus.
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5 hrs

blood sample

Detecting chomasomal reordering is carried out through a technique called "fluorescent in situ hybridization" (FISH).
(http://en.wikipedia.org/wiki/Fluorescence_in_situ_hybridizat...

Quoting from the reference below in relation to FISH:

"The laboratory will require a ***blood sample*** from the individual who carries the chromosome rearrangement so that a specific system of probes can be designed for that specific rearrangement."

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11 hrs

preliminary pre-clinical workup/pe-PGD workup

No references for “informativity” on an native En site, that I can find

I think they are talking about gathering information on genetic informative markers..


POLIQUISTOSIS RENAL AUTOSÓMICA RECESIVA
- [ Translate this page ]
El Diagnóstico Genético Preimplantacional (DGP) es un método de diagnóstico que ... Elestudio de informatividad tiene una duración aproximada de 2-3 meses. ...
www.pgdcem.com/.../poliquistosis_renal_autosomica_recesiva.... - Cached - Similar

Sangre-EDTA | IB Biotech
- [ Translate this page ]
... Fibrosis quística; Estudios genéticos; Test de sexo embrionario en la 8ª semana de gestación; Estudios de informatividad para DGP monogénicas ...
www.ibbiotech.com/es/5-1-1/envio-de.../sangre-edta/ - Cached - Simila
http://docs.google.com/viewer?a=v&q=cache:QdCLVipBDnEJ:www.p...
1.
[PDF]
Download info's on PGD workup
File Format: PDF/Adobe Acrobat - Quick View
The pre-PGD workup for each couple includes blood sample (2-5 ml form both partners and ...Preimplantation Genetic Diagnosis pre-clinical work up ...
www.preimplantationgeneticdiagnosis.it/pdf/info-pgd-workup....
2. Information on preliminary PGD workup
The pre-PGD workup for each couple includes blood sample (2-5 ml form both ...
www.preimplantationgeneticdiagnosis.it/info-preliminary-pgd... - Cached
Show more results from preimplantationgeneticdiagnosis.it
3. Preclinical work-up
Preclinical work-up. ... Enrolling a Patient for PGD • Information on preliminary PGD workup• Development of PGD protocols • Patient Information form ...
www.preimplantationgeneticdiagnosis.eu/pgd/preclinical-work... - Cached
4. Genetic Testing


http://www.preimplantationgeneticdiagnosis.it/info-prelimina...


To validate a diagnostic single cell PCR protocol, before clinical application, extensive preclinical trials on single lymphocytes or cheek cells are necessary, in order to evaluate single cell amplification efficiencies and ADO rates for all the primers to be used in the procedure.
The pre-PGD workup for each couple includes blood sample (2-5 ml form both partners and affected children or family members, if any, see paragraph “Prescription for Drawing Blood”, page 5) analysis of the prospective parents for mutation verification and informativeness for the polymorphic markers included in each assay. Additional family members may also be tested as the individual situation warrants. In some cases we also inquire for collection of cheek cells. The collection of blood and cheek cells allows preliminary analyses to be performed, which are essential to confirm that our PGD techniques will be applicable.



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Note added at 11 hrs (2011-04-11 09:05:54 GMT)
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***informativeness for the polymorphic markers****

specifically relates to "informatividad", but my suggestion covers all tests performed prior to PGD
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