Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 6, one copy inherited from each parent, form one of the pairs. Chromosome 6 spans about 171 million base pairs (the building blocks of DNA) and represents between 5.5 percent and 6 percent of the total DNA in cells.
Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 6 likely contains between 1,100 and 1,600 genes.
Genes on chromosome 6 are among the estimated 20,000 to 25,000 total genes in the human genome.
Although clubfoot is one of the most common congenital birth defects, few genetic causes have been found. Now, researchers at Washington University School of Medicine in St. Louis have found what they believe to be the most common cause of inherited clubfoot yet discovered.
Today, the Association for Molecular Pathology presented comments at the US Food & Drug Administration's public meeting on array-based cytogenetic tests. The FDA convened the meeting to seek answers to more than a dozen questions they had on how to evaluate the performance, interpret results and report findings of array-based cytogenetic tests for copy number variation.
Newborns of non-smoking moms exposed to secondhand smoke during pregnancy have genetic mutations that may affect long-term health, according to a University of Pittsburgh Graduate School of Public Health study published online in the Open Pediatric Medicine Journal. The abnormalities, which were indistinguishable from those found in newborns of mothers who were active smokers, may affect survival, birth weight and lifelong susceptibility to diseases like cancer.
Rubicon Genomics today announced that its PicoPlex linear whole genome amplification technology was proven to be effective in an independent clinical study organized by the European Society for Human Reproduction and Embryology. At a press conference during its 26th Annual Meeting in Rome, ESHRE reported the success of its "groundbreaking proof of principle study" showing that a new approach incorporating PicoPlex could more accurately detect and characterize chromosomal abnormalities in human eggs.
Researchers in The Netherlands believe they are on the verge of developing a simple, prenatal blood test that would be able to detect accurately chromosomal abnormalities in the developing foetus.
Scientists from the University of Warwick and University Hospitals Coventry and Warwickshire NHS Trust, are the first to directly measure a specific region of DNA in human embryos. The length of this region could be a quality marker for embryonic development.
Researchers in The Netherlands believe they are on the verge of developing a simple, prenatal blood test that would be able to detect accurately chromosomal abnormalities in the developing foetus. At present, the only reliable way to do this is through amniocentesis or chorionic villus sampling, both of which are invasive and carry the risk of triggering a miscarriage.
The efficacy of preimplantation genetic screening has been one of the most hotly disputed subjects in assisted reproduction over the past few years. The European Society of Human Reproduction and Embryology PGS Task Force has now shown, in its groundbreaking proof of principle study, that screening of polar bodies (small cells that are the by-product of egg development), is a reliable method to analyse the chromosomal status of an egg.
An international consortium including Helmholtz Zentrum München and the German Diabetes Center, Düsseldorf has identified 12 new gene variants which impact the individual's risk of developing type 2 diabetes. The study represents a major contribution towards elucidating the complex pathogenesis of this important widespread disease. Nature Genetics has published the findings of this study in its current issue.
Human embryonic stem cells hold great promise for studying and treating disease and for the practice of regenerative medicine. However, more must be learned to ensure the cells that may one day be transplanted into humans are safe.
Researchers from the European Molecular Biology Laboratory in Heidelberg, Germany, and the Max-Planck Institute of Immunobiology Freiburg have identified a novel protein complex that regulates around 4000 genes in the fruit fly Drosophila and likely plays an important role in mammals, too. Published today in Molecular Cell, their findings explain how another regulatory protein can lead a double life.
An international team has obtained the genome sequence of the human body louse (Pediculus humanus humanus), a parasite that feeds on the blood of its host and a vector of pathogens that cause diseases such as epidemic typhus, relapsing fever and trench fever.
Research currently being undertaken at the University of Leicester may identify reasons underlying an increased risk of Abdominal Aortic Aneurysms in men.
Researchers at the University of Utah are making strides in understanding and combating a motor neuron disease known as Spinal Muscular Atrophy. The spinal muscular atrophies are a group of inherited diseases that cause progressive degeneration of motor nerves resulting in muscle weakness.
Researchers at the University of Utah are making strides in understanding and combating a motor neuron disease known as Spinal Muscular Atrophy. The spinal muscular atrophies are a group of inherited diseases that cause progressive degeneration of motor nerves resulting in muscle weakness. The most common form of the disorder, due to the deletion of a critical gene on chromosome 5, is currently the leading cause of inherited infant and child mortality.
The U.S. Food and Drug Administration today approved a new indication for Tasigna (nilotinib) for the treatment of a rare blood cancer when it is first diagnosed. The cancer, called Philadelphia chromosome positive chronic phase chronic myeloid leukemia (Ph+ CP-CML), is a slowly progressing blood and bone marrow disease linked to a genetic abnormality.
Pediatric oncologist John M. Maris, M.D., describes the current state of the science in combating neuroblastoma, the most common solid cancer of early childhood. In his article in the June 10, 2010 New England Journal of Medicine, "Recent Advances in Neuroblastoma," Maris reviews the field's latest research knowledge—much of it based on efforts by Maris and his colleagues at The Children's Hospital of Philadelphia.
Scientists from the University of Leeds have discovered the mechanisms of a protein known to play an active part in the inherited kidney disorder, Dent's disease. The findings provide a new focus for future therapies for the disease, for which there is currently no cure.
Couples considering undergoing assisted reproductive technology (ART) treatment should be informed about the increased risk of congenital malformation posed by the use of ART, the annual conference of the European Society of Human Genetics will hear today (Monday). Dr. G-raldine Viot, a clinical geneticist at the Maternit- Port Royal hospital, Paris, France, will say that she believed that most doctors working in ART clinics in France only told couples about such risks if they were asked specific questions.
Cancer Research UK scientists have discovered cancer-blocking activity for genes carried on chromosome 21 - an extra copy of which is carried by people with Down's syndrome, reveals research published in Nature.
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