Navigation Links
Discovery of the gene responsible for multiple intestinal atresia in newborns
Date:6/11/2013

ELB) as well as a professor in the Faculty of Medicine and Health Sciences at the Universit de Sherbrooke (UdeS).

Heredity thought to be the cause

Although the disease is very rare, it nevertheless seems to occur at a higher frequency in the French-Canadian population of Quebec. According to the research, this population is affected more than any other population group in the world. The condition seemed to be most probably of genetic origin, since in some families more than one child is born with the condition. This suggests recessive heredity, which is carried by the parents. "We have discovered that a number of children born with MIA carry the same genetic mutation from both parents. This finding confirms the recessive disease hypothesis that the mutation is inherited from both the father and the mother. As they do not suffer from the disease and do not know that they can transmit the mutation. The identification of the defective gene (TTC7A) makes it possible for us to know the cause of the condition. This is excellent news both for Quebec families with the disease and families around the world where the mutation is present," confirms Vincent Raymond, co-author of the study and a researcher at the CHU de Qubec Research Center.

Screening tests for pregnant women and family members who are potential carriers

Couples with an MIA child have a 25% risk of recurrence in subsequent pregnancies. "The concept of prenatal diagnosis allows couples to proceed with tests at the beginning of the pregnancy to determine whether the child they are expecting will be affected. We can also, within the same family, determine whether, for example, siblings are carriers of this genetic condition, and eventually, whether their partner is at risk in order to predict the risk of recurrence in the following generations," stresses Dr. Maranda, the study's principal investigator and Head of the Department of Medical Genetics at the CHUS.

The
'/>"/>

Contact: Mathieu Filion
m.filion.rivest@umontreal.ca
514-343-7704
University of Montreal
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. Autism discovery paves way for early blood test and therapeutic options
2. Eurofins MWG Operon and Floragenex close co-marketing agreement for RAD discovery and RAD genotyping
3. Discovery pinpoints cause of 2 types of leukemia
4. Discovery shows fat triggers rheumatoid arthritis
5. Pitt discovery holds potential in destroying drug-resistant bacteria
6. Discovery of new hormone opens doors to new type 2 diabetes treatments
7. Discovery may help prevent chemotherapy-induced anemia
8. Discovery may help prevent HIV reservoirs from forming
9. An important discovery in breast cancer by IRCM researchers
10. Genetic discovery found to influence obesity in people of African ancestry
11. Accidental discovery may lead to improved polymers
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/11/2014)... SEATTLE, WASH. July 11, 2014 Researchers ... navigate three-dimensional images. The new technology, called Virtual ... of small structures like neurons and synapses using ... Finger,s unique technology makes 3D imaging studies orders ... resources at an unprecedented level across many areas ...
(Date:7/11/2014)... cannabinoid receptor type 1 can inhibit voltage-gated ... reduce neurotransmitter release. However, some scholars demonstrated ... extracellular Ca2+ influx and increase neurotransmitter release. ... Hospital Affiliated to Tongji Medical College, Huazhong ... whole cell voltage-clamp and calcium imaging in ...
(Date:7/10/2014)... 27, 2014  The American Academy of Forensic ... Standards and Technology (NIST) and the Department of ... and forensic science expert members to the Forensic ... element of the NIST,s Organization of Scientific Area ... first appointments made to the new FSSB that ...
Breaking Biology News(10 mins):Virtual finger enables scientists to navigate and analyze complex 3D images 2Ten Members of the American Academy of Forensic Sciences Appointed to Forensic Science Standards Board (FSSB) 2Ten Members of the American Academy of Forensic Sciences Appointed to Forensic Science Standards Board (FSSB) 3
... have for the first time successfully imaged the internal ... resolution using a technique borrowed from biomedical science. The ... . "Invertebrate worms are important for the functioning ... are needed to understand their physiology, ecology and evolution," ...
... A new study to be published in the ... that efforts to restore the endangered California delta smelt ... on reducing nutrient pollution to the species, native waters. ... from reductions in the amount of nitrogen flowing into ...
... University,s fourth "Art of Science" exhibition -- featuring ... course of scientific research -- is now viewable ... in 2005, the Art of Science Competition has ... for scientific imagination," said Adam Finkelstein, associate professor ...
Cached Biology News:Scientists use biomedical technique to image marine worm 2New research links decline of endangered California delta smelt to nutrient pollution 2Art of Science 2010 online gallery launches 2
(Date:7/10/2014)... 15, 2014 -- According to the International Atomic ... security comes from terrorists acquiring sufficient quantities of ... a crude nuclear explosive device. The IAEA also ... have involved gram-level quantities, which can be challenging ... to a new study appearing this week in ...
(Date:7/10/2014)... 17, 2014 Using microscopic polymer light resonators ... researchers at MIT,s Quantum Photonics Laboratory have developed ... the parts-per-billion range. Optical sensors are ideal for ... signal-to-noise ratio, compact, lightweight nature, and immunity to ... had been developed before, the MIT team conceived ...
(Date:7/10/2014)... the basis of psychiatric disorders has been extremely challenging ... risk but are insufficient to cause disease. Now investigators ... Press journal Cell Stem Cell describe a ... risks interact with other risk factors or environmental exposures ... research pinpoints a genetic variant that may predispose individuals ...
(Date:7/10/2014)... RICHLAND, Wash. The lithium-ion batteries that power our ... run longer on a single charge with the help ... the porous material to replace the graphite traditionally used ... more than 10 times the energy storage capacity of ... lithium-ion battery electrode was published today in Nature ...
Breaking Biology Technology:Sensitive detection method may help impede illicit nuclear trafficking 2Swell new sensors 2New strategy could uncover genes at the root of psychiatric illnesses 2Silicon sponge improves lithium-ion battery performance 2Silicon sponge improves lithium-ion battery performance 3
... 2011 Landauer, Inc. (NYSE: LDR ... monitoring and the leading domestic provider of outsourced medical physics ... quarter ended March 31, 2011.   Fiscal 2011 ... to $32.3 million on contribution from Medical Physics segment and ...
... N.J., May 3, 2011 BioNeutral Group, Inc. ... today announced that it has signed on to ... disinfectant technology to the infection control professionals attending ... in Infection Control and Epidemiology) ( www.apic.org ). ...
... Inc. (Nasdaq: VVUS ), a biopharmaceutical company dedicated to ... financial results for the first quarter ended March 31, 2011. ... 2011, VIVUS reported a net loss of $9.9 million or $0.12 ... or $0.23 per share for the first quarter of 2010. The ...
Cached Biology Technology:Landauer, Inc. Reports Fiscal 2011 Second Quarter Results 2Landauer, Inc. Reports Fiscal 2011 Second Quarter Results 3Landauer, Inc. Reports Fiscal 2011 Second Quarter Results 4Landauer, Inc. Reports Fiscal 2011 Second Quarter Results 5Landauer, Inc. Reports Fiscal 2011 Second Quarter Results 6Landauer, Inc. Reports Fiscal 2011 Second Quarter Results 7Landauer, Inc. Reports Fiscal 2011 Second Quarter Results 8Landauer, Inc. Reports Fiscal 2011 Second Quarter Results 9Landauer, Inc. Reports Fiscal 2011 Second Quarter Results 10Landauer, Inc. Reports Fiscal 2011 Second Quarter Results 11Landauer, Inc. Reports Fiscal 2011 Second Quarter Results 12BioNeutral to Premier its EPA-Approved Ygiene® 206 Hospital-Grade Disinfectant at the Annual 2011 APIC Conference, While Community Health of South Florida Begins Product Review 2BioNeutral to Premier its EPA-Approved Ygiene® 206 Hospital-Grade Disinfectant at the Annual 2011 APIC Conference, While Community Health of South Florida Begins Product Review 3BioNeutral to Premier its EPA-Approved Ygiene® 206 Hospital-Grade Disinfectant at the Annual 2011 APIC Conference, While Community Health of South Florida Begins Product Review 4VIVUS Reports First Quarter 2011 Financial Results 2VIVUS Reports First Quarter 2011 Financial Results 3VIVUS Reports First Quarter 2011 Financial Results 4VIVUS Reports First Quarter 2011 Financial Results 5
... from human rhinovirus (HRV 3C) is the ... of restriction grade proteases. The recombinant protease ... which recognizes the same cleavage site as ... KDa size of the protease, optimal activity ...
... unique Electro-4 design allows "4 gels in ... is possible to run 200,samples or more ... up to four,horizontal gels. To ensure even ... the number of gels being run. Ideal ...
... Centra CL3 series is designed to ... and clinical applications at a reasonable ... includes quick connect rotors and various ... intuitive interface allows you to control ...
... Continuing a tradition of progressive centrifuge ... CL3 series. The Centra-CL3 and Centra-CL3R (refrigerated) ... todays laboratory., Quality Control Over Sample ... and lock up to 99 protocols and ...
Biology Products: