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Latest Copy number variation Stories

2011-10-28 12:11:35

Parasite genomes speak of evolution by changes in gene, region and chromosome number, not by mutation in genes Two remarkable discoveries were today revealed by researchers into genome analysis of Leishmania parasites. These results uncovered a surprising level of variation at the genome structure level. First, they found that the DNA sequence of individual strains of each species populations is almost completely identical. It appears that only a small number of genes may cause...

2011-10-05 05:53:07

(Ivanhoe Newswire) — Autism is one of the most common genetic alterations, caused by a deletion of the 27-gene cluster on chromosome 16. By generating mouse models of autism, scientists at Cold Spring Harbor Laboratory (CSHL) provided the first evidence that inheriting fewer copies of these genes leads to features resembling those used to diagnose children with autism. "Children normally inherit one copy of a gene from each parent. We had the tools to see whether copy number changes...

2011-10-04 10:16:18

Chromosomal abnormalities linked to intellectual disability can be traced back to the father, particularly those who are older when the child is conceived, finds research published online in the Journal of Medical Genetics. Chromosomal abnormalities are caused by copy number variations, or CNVs. These are structural variations resulting in missing, repeated, inverted or misplaced DNA sequences in cells. They can be inherited or arise anew, and are a common cause of disease. However,...

2011-09-16 11:13:29

Using a diversity of DNA sequencing and human genome analytic techniques, researchers led by Baylor College of Medicine have identified some cases of developmental delay or cognitive disorders associated with a sudden chromosomal catastrophe that occurred early in development, perhaps during cell division when DNA is replicated. In a report in the journal Cell, Dr. Weimin Bi, assistant professor of molecular and human genetics, Dr. James R.Lupski, vice chair of molecular and human...

2011-09-15 13:05:47

Using a diversity of DNA sequencing and human genome analytic techniques, researchers led by Baylor College of Medicine have identified some cases of developmental delay or cognitive disorders associated with a sudden chromosomal catastrophe that occurred early in development, perhaps during cell division when DNA is replicated. In a report in the journal Cell, Dr. Weimin Bi, assistant professor of molecular and human genetics, Dr. James R.Lupski, vice chair of molecular and human...

2011-08-11 12:13:30

New research led by The Hospital for Sick Children (SickKids) and the University of Toronto has identified more genes in attention deficit hyperactivity disorder (ADHD) and shows that there is an overlap between some of these genes and those found in other neuropsychiatric conditions such as autism spectrum disorder (ASD). The study is published in the August 10 advance online edition of Science Translational Medicine. The research team was led by Dr. Russell Schachar, Senior Scientist and...

2011-06-17 13:20:01

Results published today in PLoS Genetics Patients with thoracic aortic aneurysms that lead to acute aortic dissections are 12 times more likely to have duplications in the DNA in a region of chromosome 16 (16p13.1) than those without the disease, according to a study led by genetic researchers at The University of Texas Health Science Center at Houston (UTHealth). The results of the innovative study, which included researchers at Baylor College of Medicine, are published in the June 16 issue...

2011-06-17 13:09:38

People who have duplications in a region of chromosome 16 (16p13.1) that is present in approximately 1 in 1000 individuals have a 12-fold increased risk of thoracic aortic aneurysms leading to a tear in the aorta, or acute aortic dissections. An estimated 10000 people die annually from thoracic aortic aneurysms and dissections (TAAD) in the United States, where TAAD have ranked as high as the 15th leading cause of death. The study, led by genetic researchers at The University of Texas Health...

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2011-06-09 05:00:00

Three papers being published on June 9 in the journal Neuron provide new insight into the diversity of genetic abnormalities that contribute to autism. Two separate research groups searched for "copy number variants" in genetic samples from over 1,000 autism spectrum disorder (ASD) families that were recruited as part of the Simons Simplex Collection project.  The researchers compared DNA from affected and unaffected siblings using distinct versions of a sensitive and powerful genetic...


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