Navigation Links
Researchers at Cruces Hospital describe new syndrome of slight family intellectual disability
Date:9/26/2011

these tests and with a family history, the scientists decided to continue the research.

At this point the exploration of other genes on the X chromosome became necessary, a task which was able to be carried out thanks to two research projects initiated by the Basque Foundation for Health Innovation and Research, employing the income obtained from the telemarathon solidarity events of the Basque Public Broadcasting Corporation some years ago and which was channelled into research into limited intellectual disability and rare diseases.

The team led by Isabel Tejada then decided to apply a technique known as CNV (copy number variants), "observing deletions and duplications of the genome not visible with the microscope". To this end, "we used a a technique known as MLPA (Multiplex ligation-dependent probe amplification) involving a number of probes or fragments of the genome we wished to analyse, given that there had been three known similar cases with the common factor of maternal inheritance. To our surprise we spotted a duplication of a very small region, hitherto undescribed, and which contained 7 genes of which only one - the RPS6KA3 is related to mental retardation", pointed out the geneticist.

Nevertheless, mutations in this gene produce another type of syndrome which was not the case in this patient. "This fact made us think that we had something novel in front of us and that, as happens with other syndromes, the duplication of the gene or genes produces a pathological effect opposite to and/or different from isolated deletions or mutations, given that it is not the deficiency of one or various proteins, but their over-expression, that produces the pathological effect".

Finally, the hypothesis was tested "with other, complementary tests, such as CGH (comparative genomic hybridisation) arrays and studies of messenger RNA and protein expression".


'/>"/>

Contact: Oihane Lakar
o.lakar@elhuyar.com
0034-943-363-040
Elhuyar Fundazioa
Source:Eurekalert

Page: 1 2

Related biology news :

1. UCLA researchers develop system that finds prostate cancer spread earlier than conventional imaging
2. Joslin researchers identify pathways leading to activation of good fat
3. Kansas researchers find enriched infant formulas benefit brain and heart
4. Researchers sequence dark matter of life
5. Researchers discover a switch that controls stem cell pluripotency
6. MU researchers unveil new method for detecting lung cancer in Nature article
7. Notre Dame researchers demonstrate antibiotic sensing event central to MSRA antibiotic resistance
8. Researchers uncover a potential new benefit of pure maple syrup on liver health
9. EPA grants help Wayne State researchers stave off Great Lakes environmental invaders
10. UTHealth, BCM researchers find common gene variant associated with aortic dissection
11. Researchers find high levels of toxic PCBs in Indiana Harbor and Ship Canal
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:12/22/2014)... 2014 Research and Markets ... of the "The Global Watermarking and ... http://photos.prnewswire.com/prnh/20130307/600769 ... of the global digital media watermarking and ... monitor piracy by securely and invisibly embedding ...
(Date:12/19/2014)... 2014   LaunchKey , the first decentralized mobile ... Internet of Things era, today announced the close of ... was led by Metamorphic Ventures with participation from ENIAC ... and others.  LaunchKey has raised $4 million to date, ... team and bring LaunchKey to market in 2015. ...
(Date:12/17/2014)... DUBLIN , Dec. 16, 2014 Research ... announced the addition of the "Global Chemical ... http://photos.prnewswire.com/prnh/20130307/600769 ... is the increasing demand for medical sensors in ... patient data for quick and correct diagnosis during ...
Breaking Biology News(10 mins):The Global Watermarking and Fingerprinting Markets 2LaunchKey Raises $3 Million in Additional Funding Led by Metamorphic Ventures 2LaunchKey Raises $3 Million in Additional Funding Led by Metamorphic Ventures 3Global Chemical Sensor Market 2015-2019: Key Vendors are Abbott Laboratories, Bayer, Hoffmann La-Roche, Johnson & Johnson, NGK Spark Plugs and Robert Bosch 2
... to expand at a record pace with the addition of ... provides data on nearly half of all described species, with ... the International Union for the Conservation of Nature (IUCN) and ... In the four years since its first release, EOL ...
... Durham, NC The toothiest prehistoric predators also had beefier ... may come to mind, but these extinct cats weren,t the ... also known as nimravids and their catlike cousins, ... of these mammal groups lived millions of years before cats ...
... science have been discovered on the seafloor near Antarctica, ... The discoveries, made by teams led by the ... Survey, include new species of yeti crab, starfish, barnacles, ... first time, researchers have used a Remotely Operated Vehicle ...
Cached Biology News:The Encyclopedia of Life expanding at a record pace 2Prehistoric predators with supersized teeth had beefier arm bones 2Prehistoric predators with supersized teeth had beefier arm bones 3'Lost world' discovered around Antarctic vents 2
(Date:12/22/2014)... Dec. 22, 2014  ( www.competitivehealth.com ) — Competitive ... medical bill review and advocacy service, has signed an ... WellCard Savings discount health services marketplace. 63% ... more than they expected to pay. As part of ... costs, WellCard Savings is pleased to offer medical bill ...
(Date:12/22/2014)... 22, 2014 Fertility Associates of Memphis ... Bank USA , a network of more than 20 ... partnership, patients have fast access to a national pool ... IVF . Fertility Associates of Memphis is the only ... treatment option. , Dr. William Kutteh , director ...
(Date:12/19/2014)... BioPlus Specialty Pharmacy (BioPlus), one ... of Nick Maroulis, Pharm.D. to the newly created position ... In this position, Dr. Maroulis will continue to manage ... of our multi-site pharmacies as the company expands. Dr. ... that time he has served in many different capacities ...
(Date:12/19/2014)... Dec. 19, 2014 Bina Technologies, Inc. (Bina, ... that they have been acquired by Roche (SIX: RO, ... privately held company that provides a big data platform ... (NGS) data for the academic and translational research markets. ... and will continue to focus on development of their ...
Breaking Biology Technology:WellCard Savings Announces CoPatient Medical Bill Review Service for Members 2Fertility Associates of Memphis Announces Partnership with Donor Egg Bank USA 2Fertility Associates of Memphis Announces Partnership with Donor Egg Bank USA 3BioPlus Specialty Pharmacy Promotes Dr. Nick Maroulis to Vice President of Specialty Pharmacy Services 2Bina Technologies is acquired by Roche. 2Bina Technologies is acquired by Roche. 3
... , NEW YORK, Nov. ... research report is available in its catalogue. , ... Perspective , http://www.reportlinker.com/p0164375/Biotechnology-Reagents---A-Global-Market-Perspective.html#utm_source=prnewswire&utm_medium=pr&utm_campaign=prnewswire ... chemical compounds used in a range of biotech ...
... , MONROVIA, Calif. and HANGZHOU, China, Nov. 18 ... "Company") (OTC Bulletin Board: NIUS), a leading U.S.-based biotech company ... announced that the Company,s popular Gummy Bear products will be ... has entered into a one year distribution contract with Hainan ...
... AMSTERDAM, November 18 , ... Heart,Association , Amsterdam Molecular Therapeutics (EuroNext Amsterdam: ... its non-audited business,update in compliance with the EU transparency directive. This ... 2009. , Q3 2009 Highlights, ...
Cached Biology Technology:Reportlinker Adds Biotechnology Reagents - A Global Market Perspective 2Reportlinker Adds Biotechnology Reagents - A Global Market Perspective 3Reportlinker Adds Biotechnology Reagents - A Global Market Perspective 4Reportlinker Adds Biotechnology Reagents - A Global Market Perspective 5Reportlinker Adds Biotechnology Reagents - A Global Market Perspective 6Reportlinker Adds Biotechnology Reagents - A Global Market Perspective 7Reportlinker Adds Biotechnology Reagents - A Global Market Perspective 8Niusule Expands Geographic Footprint in China 2Niusule Expands Geographic Footprint in China 3AMT Provides Business Update for the Third Quarter 2009 2AMT Provides Business Update for the Third Quarter 2009 3AMT Provides Business Update for the Third Quarter 2009 4
Human alpha-1-antitrypsin. No cross-reactivity with alpha-1-acid glycoprotein, serum albumin or other serum proteins....
Phosphorylcholine hapten is conjugated to BSA protein by use of p-diazonium phenylphosphorylcholine....
Viral CMV UL146/vCXC1 Biotinylated Affinity Purified PAb...
Blue Standard is 3-cyano-7-hydroxycoumarin....
Biology Products: