Navigation Links
Double-teaming a whole-genome hunt
Date:7/12/2010

By inspecting the sequence of all 3 billion "letters" that make up the genome of a single person affected with a rare, inherited disorder, a Johns Hopkins and Duke University team ferreted out the single genetic mutation that accounts for the disease.

Reporting their results in the June 17 issue of PLoS Genetics, the team says an altered version of the gene PTPN11 is the cause of metachondromatosis, a disorder characterized by bony growths, often on the hands and feet.

The study, the scientists say, demonstrates that new, whole-genome sequencing technology can efficiently and accurately lead investigators to the identification genes that cause Mendelian diseases those caused by mutations in a single gene and passed on according to classic genetic patterns.

The traditional way of collaring a Mendelian disease-causing gene entails time-consuming and labor-intensive genetic analyses of numerous related individuals across generations. Known as "linkage," this approach depends on collecting families, especially large families with multiple affected members. This can be difficult and time consuming and often does not have sufficient resolution to identify the responsible gene. In fact, the definitive catalog of genes and disorders maintained at Johns Hopkins, Online Mendelian Inheritance in Man (OMIM), lists more than 1,500 disorders for which linkage studies have identified a large genomic region but have failed to pinpoint the responsible gene.

The failures were often due to the absence of enough related and affected individuals to provide linkage evidence of sufficient strength and resolution to identify the genes responsible for rare inherited diseases. Another weakness of linkage studies is that an affected individual may be so mildly affected that they are erroneously classified as unaffected, thereby skewing study results.

Success for metachondromatosis came when researchers combined a linkage study of 11 family m
'/>"/>

Contact: Maryalice Yakutchik
myakutc1@jhmi.edu
443-287-2251
Johns Hopkins Medical Institutions
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. Stimulus grant to fund whole-genome sequencing in children with autism
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/29/2014)... Schools of Dentistry (UM SOD) and Medicine (UM ... a five-year $10.7 million grant award from the ... of the National Institutes of Health to study ... (STDs). The grant, which renews a previous $12 ... direction for the research by studying chlamydial and ...
(Date:7/29/2014)... ground breaking new book that brings together two of ... raise the profile of insect fossils through stunning photographs ... Penney and James E Jepson, details the incredible preservation ... setting the scene for what these remarkable fossils can ... even the future of our planet. Like the mosquito ...
(Date:7/28/2014)... new discovery of two additional coral communities showing signs of ... footprint of the 2010 spill in the Gulf of Mexico. ... Fisher, professor of biology at Penn State University. A paper ... corals in the Gulf of Mexico will be published during ... Edition of the journal Proceedings of the National Academy ...
Breaking Biology News(10 mins):University of Maryland Schools of Dentistry and Medicine receive NIH grant 2University of Maryland Schools of Dentistry and Medicine receive NIH grant 3University of Maryland Schools of Dentistry and Medicine receive NIH grant 4Unique images bring fossil insects back to life 2Impact of Deepwater Horizon oil spill on coral is deeper and broader than predicted 2
... Bluefin Are Skinny DURHAM, N.H. The quality ... Maine has declined significantly since the early 1990s, researchers ... analyzing detailed logbooks from a commercial tuna grader at ... in Fishery Bulletin, indicate potential changes in food sources, ...
... syndrome is a common problem in children 8 years of ... Kingdom, according to a new report from an international team ... to 17 are affected, and a significant proportion of those ... moods. The report appears in the August issue of the ...
... University of Minnesota Medical School and Brain Sciences Center ... noninvasive and painless way to diagnose complex brain diseases. ... of light.The research offers promise for a less-stressful, painless, ... a way to measure the effectiveness of different treatments ...
Cached Biology News:Condition of bluefin tuna in gulf of maine is declining 2Condition of bluefin tuna in gulf of maine is declining 3Restless legs syndrome affects nearly 2 percent of US/UK children 2Restless legs syndrome affects nearly 2 percent of US/UK children 3U of MN researchers discover noninvasive diagnostic tool for brain diseases 2
(Date:7/29/2014)... PORTLAND, Oregon , July 29, 2014 ... titled, "Global surgical equipment market (types, applications and geography) ... Analysis, Research, Report, Opportunities, Segmentation and Forecast, 2013 - ... expected to reach $12.1 billion by 2020 registering a ... Due to the breakthrough achieved by the electro surgical ...
(Date:7/29/2014)... MD (PRWEB) July 29, 2014 ... a vaccine pioneer in the biotechnology industry, announced ... Newport Coast Securities, Inc. to explore financing opportunities ... LAMP-vax technology, a breakthrough vaccine platform with the ... market. The company exclusively licensed the well-established LAMP ...
(Date:7/29/2014)... July 29, 2014 DisasterTalk is a texting ... where cell phone masts or other transmitters are down. The ... feet away without the need for any Wi-Fi, and can ... , The new app has launched as a housing ... at very high risk of being affected by natural disasters. ...
(Date:7/29/2014)... 29, 2014 The first product launch ... generation approach to robotics. What sets Droidles completely apart ... technology that allows them to communicate, share code with ... the internet. , “The invention is the system,” said ... Droidles a life of their own, both physically and ...
Breaking Biology Technology:Global Surgical Equipment Market is expected to reach $12.1 billion by 2020 - Allied Market Research 2Global Surgical Equipment Market is expected to reach $12.1 billion by 2020 - Allied Market Research 3Immunomic Therapeutics Engages Newport Coast Securities, Inc. 2Immunomic Therapeutics Engages Newport Coast Securities, Inc. 3DisasterTalk App Could Save Lives as Report Reveals 8% of US Homes at Very High Risk of Natural Disaster 2Droidles, the Social Network of Robots and Open Source Platform for the Internet of Things, Launches for Crowd Funding on IndieGoGo.com 2
... by SkyPilot Networks at Hamburger University in Oak Brook, Ill., ... rally municipal attendees. He said we need to focus on ... , ,Quinn had some encouraging remarks about keeping the playing ... blockading. He has made this a priority in his job ...
... - Seven emerging companies in the Chippewa Valley are vying ... and, eventually, a needed dose of public awareness as part ... by the Eau Claire Area Economic Development Corporation . ... year, seven applicants have been invited to submit full business ...
... every any doubt, let me assure you that DEMOletter blog readers ... up this space to any reader who had a perspective, opinion, ... Jim Forbes responded. And it seems even Jim prefers the ... again being edited by me. , ,Most of you, I suppose, ...
Cached Biology Technology:Municipal broadband in Illinois: Where are the standards? 2Municipal broadband in Illinois: Where are the standards? 3Municipal broadband in Illinois: Where are the standards? 4Eau Claire business contest down to 7 applicants 2The DEMO Summer Reading List 2The DEMO Summer Reading List 3
... system, 100-240 V, uses xMAP technology for ... proteins and peptides in one microplate well. ... to 100 color-coded bead sets, each of ... reactant (enzyme substrates, receptors, antigens, or antibodies) ...
Cell Culture Flask, 75 cm, treated polystyrene...
...
... These 50ml PYREX Delong style shaker ... to provide greater agitation of solutions to ... with rotary or reciprocating shakers. The long ... two-position polypropylene closures. Their uniform wall thickness ...
Biology Products: