Navigation Links
Speeding the search for elusive chromosomal errors

NA alterations throughout all of a patient's chromosomes.

Gene Chips Detect Tiny Structural Defects in Genomic Diseases

Conditions that originate in alterations of chromosome architecture have been called "genomic diseases." The smallest of these structural defects are microdeletions, a loss of a small amount of genetic material, or microduplications, an excess of genetic material.

Individually, many genomic diseases are rare, but collectively, they may occur in one in 1,000 live births. Frequently the gene aberrations harm multiple organ systems. For example, patients with chromosome 22q11.2 deletion syndrome may have heart defects, impaired immunity and developmental delay. Deletions of several genes in Prader-Willi syndrome may cause obesity and mental retardation.

To seek out miniscule rearrangements in chromosomes, the Children's Hospital team employed the types of gene chips, or microarrays, originally designed to identify genes involved in common, complex diseases like diabetes and hypertension. Microarrays contain short fragments of DNA, called oligonucleotides, that bind to complementary stretches of DNA within a sample being tested. These microarrays hold more than 100,000 DNA oligonucleotides, which allow researchers to rapidly analyze a person's whole genome -- the entire complement of DNA in a cell nucleus.

"These microarrays provide more rapid and precise results than karyotyping, and offer as much as 50 times higher resolution than other, more commonly used microarrays, such as bacterial artificial chromosome arrays," said Dr. Shaikh. "Our study is one of the first to report using these microarrays in a clinical setting to detect constitutional rearrangements which lead to severe birth defects." Constitutional rearrangements occur in all of a person's cells.

As Technology Improves, Smaller Defects Should Be Detectable

In the current paper, the research team first validated the micr
'"/>

Source:Children's Hospital of Philadelphia


Page: 1 2 3 4

Related biology news :

1. Speeding discovery of the human cancer genome
2. Speeding fingertip discovery -- 20 years of protein info in 1 place
3. Researchers discover way to make cells in the eye sensitive to light
4. Quantum Dots Research Leads to New Knowledge about Protein Binding in Plants
5. Columbia research lifts major hurdle to gene therapy for cancer
6. Researchers find how protein allows insects to detect and respond to pheromones
7. Researchers Uncover Key Step In Manufacture of Memory Protein
8. Research advances quest for HIV-1 vaccine
9. Research on Worms Yields Clues on Aging
10. U of M researcher examines newly emerging deadly disease
11. NYU researchers simulate molecular biological clock
Post Your Comments:
*Name:
*Comment:
*Email:
TAG: Speeding the search for elusive chromosomal errors

(Date:7/31/2015)... , July 31, 2015 The 10 th ... be held by BGI from October 22-25, 2015, in ... The conference is celebrating its 10 th anniversary this ... of the world,s most influential annual meetings in the ,omics, ... enjoyable scientific gatherings. ICG-10 focuses on recent ...
(Date:7/23/2015)... Research and Markets ( http://www.researchandmarkets.com/research/rzzp3v/global_outlook_of ) ... Outlook of the Biometrics Industry 2015 " ... global biometrics market is likely to witness significant ... to the uptake of multiple technologies available. The ... the growth of biometrics in existing applications as ...
(Date:7/13/2015)... , July 13, 2015 Synaptics ... of human interface solutions, today announced sampling of ... and display driver integration (TDDI) product targeting smartphones ... first to combine Synaptics , best-in-class touch ... display driver technology developed in the company,s Japan ...
Breaking Biology News(10 mins):The 10th International Conference on Genomics (ICG-10) to Open in October 2Global Outlook of the Biometrics Industry 2015 2Global Outlook of the Biometrics Industry 2015 3Synaptics Announces Sampling of Second Generation TDDI Solutions 2Synaptics Announces Sampling of Second Generation TDDI Solutions 3
... volume of online scientific data, a new style of ... have a direct impact on scientists and clinicians. ... Biology and Faculty of 1000 Medicine, are each launching ... journals, called F1000 Reports, are unlike existing scientific journals ...
... wide-open spaces of the Flint Hills may no longer ... familiar grassland birds, according to research by a Kansas ... found that three bird species common to the Flint ... population decline in the face of extensive land-management practices ...
... epidemiological study of men and post-menopausal women primarily over ... associated with greater bone mineral density (BMD). Researchers at ... Aging (USDA HNRCA) at Tufts University found associations were ... significantly lower in men drinking more than two servings ...
Cached Biology News:World's experts identify the hottest trends in biology and medicine 2Birds in Flint Hills of Kansas, Oklahoma face population decline despite large habitat 2Birds in Flint Hills of Kansas, Oklahoma face population decline despite large habitat 3Moderate alcohol intake associated with bone protection 2Moderate alcohol intake associated with bone protection 3
(Date:8/3/2015)...  Halozyme Therapeutics, Inc. (NASDAQ: HALO ) will ... quarter 2015 on Monday, August 10, 2015 at 4:30 ... president and chief executive officer, will lead the call. ... results for the second quarter 2015. The ... of Halozyme,s corporate website and a recording will be ...
(Date:8/3/2015)... 2015  ArroGen Group, an integrated advanced forensic ... Identification™ (FMID) technology Aug. 2-8 at the International ... Sacramento, Calif. FMID, a ... enforcement agents, district attorneys and government agencies to ... By analyzing chemical residues on fingerprints taken ...
(Date:8/3/2015)... At the 11th hour, London,s ... of Jude Liversage,s campaign so the seven-year-old ...      (Photo: http://photos.prnewswire.com/prnh/20150803/254228 ) ... The Selective Dorsal Rhizotomy (SDR) procedure reduced the spasticity ... wish to kick a ball around like his schoolmates. ...
(Date:8/3/2015)... Ga. , Aug. 3, 2015  MiMedx Group, ... company utilizing human amniotic tissue and patent-protected processes to ... Wound Care, Surgical, Orthopedic, Spine, Sports Medicine, Ophthalmic and ... present at the 35 th Annual Canaccord|Genuity Growth ... H. "Pete" Petit, Chairman and CEO, William C. ...
Breaking Biology Technology:Halozyme to Host Second Quarter 2015 Financial Results Conference Call 2ArroGen Previews New Fingerprint Molecular Identification Technology 2Cerebral Palsy Operation by The Portland Hospital Allows a Boy to Stand Properly for the First Time 2Cerebral Palsy Operation by The Portland Hospital Allows a Boy to Stand Properly for the First Time 3MiMedx To Present At 35th Annual Canaccord|Genuity Growth Conference 2
... /PRNewswire-FirstCall/ - YM BioSciences Inc. (NYSE Amex: YMI, ... York), a licensee of several small molecule compounds ... of Health (NIH) Small Business Innovation Research (SBIR) ... Phase I awards to develop novel treatments for ...
... a bad rap for contributing to hypertension and cardiovascular disease. ... Sciences have discovered that sodium also plays a key role ... Tufts scientists have found a way to regenerate injured spinal ... an influx of sodium ions into injured cells. ...
... and global contributions to clean water and environmental causes, ... to invention and the pursuit of discovery, Professor Xiaoguang ... Stevens Institute of Technology at the university,s annual Convocation ... professor in the Charles V. Schaefer, Jr. School of ...
Cached Biology Technology:YM BioSciences licensee Pulmokine awarded NIH funding to develop small molecule drugs for pulmonary hypertension 2YM BioSciences licensee Pulmokine awarded NIH funding to develop small molecule drugs for pulmonary hypertension 3Sodium plays key role in tissue regeneration 2Sodium plays key role in tissue regeneration 3Xiaoguang Meng receives honorary master of engineering from Stevens 2Xiaoguang Meng receives honorary master of engineering from Stevens 3
... Complete Solution Polymorphic DNA ... We provide a complete solution for SNP ... assay design, oligonucleotide primers, PCR amplification, DNA ... For SNP discovery, Polymorphic uses ...
... mini ReadySub-Cell GT cell and PowerPac basic power ... of nucleic acids in agarose gels. The mini ... cables and electrodes, and leveling bubble. The PowerPac ... output of 10-300 V, 4-400 mA, and 75 ...
... CE-based system provides clear advantages over ... load, gene expression), mutation analysis, and ... system with microplate connectivity is ideal ... quality control. The P/ACE Series ...
The imaging screen-K (Kodak), tritium, is a 20 x 25 cm storage phosphor screen that is used for the quantitation and imaging of 32P, 33P, 35S, 14C, and 3H....
Biology Products: