knabe
Well-known member
http://www.the-scientist.com/2008/8/1/55/1/
In 2004, two landmark studies showed that gains or losses of large swaths of DNA - known as copy number variants (CNVs) - are common features of the human genome. These first genome-wide studies identified a few hundred CNVs, but because of the techniques used, researchers could detect only large-scale differences of roughly 50 kb and greater. Then, in early 2006, two new studies, both Hot Papers this month, discovered close to 700 finer-scale CNVs within the human genome. Both papers looked for odd patterns in the existing HapMap SNP data to uncover deletion "footprints." One study discovered apparent violations of Mendelian inheritance, 1 while the other inspected clusters of SNPs that are out of expected equilibrium frequencies, and other genotyping errors. 2 These papers also showed that deletions and their neighboring SNPs are tightly linked, indicating that most polymorphic deletions have ancient origins.tist.com/2008/8/1/55/1/
researchers at the Karolinska University Hospital in Stockholm showed earlier this year that individuals homozygous for one of the most commonly deleted genes, UGT2B17, identified in the Hot Paper by Steven McCarroll's group at the Broad Institute have lower levels of urinary testosterone, suggesting that steroid users might often pass undetected in current athletic doping tests simply based on their DNA.
I think TH is a gene with a big deletion.
Earlier this year, Eichler and his colleagues used fosmid clone-based sequencing of eight genomes to identify close to 1,700 CNVs greater than 8 kb, around a third of which were not present in the human reference genome sequence.
hmm.
In 2004, two landmark studies showed that gains or losses of large swaths of DNA - known as copy number variants (CNVs) - are common features of the human genome. These first genome-wide studies identified a few hundred CNVs, but because of the techniques used, researchers could detect only large-scale differences of roughly 50 kb and greater. Then, in early 2006, two new studies, both Hot Papers this month, discovered close to 700 finer-scale CNVs within the human genome. Both papers looked for odd patterns in the existing HapMap SNP data to uncover deletion "footprints." One study discovered apparent violations of Mendelian inheritance, 1 while the other inspected clusters of SNPs that are out of expected equilibrium frequencies, and other genotyping errors. 2 These papers also showed that deletions and their neighboring SNPs are tightly linked, indicating that most polymorphic deletions have ancient origins.tist.com/2008/8/1/55/1/
researchers at the Karolinska University Hospital in Stockholm showed earlier this year that individuals homozygous for one of the most commonly deleted genes, UGT2B17, identified in the Hot Paper by Steven McCarroll's group at the Broad Institute have lower levels of urinary testosterone, suggesting that steroid users might often pass undetected in current athletic doping tests simply based on their DNA.
I think TH is a gene with a big deletion.
Earlier this year, Eichler and his colleagues used fosmid clone-based sequencing of eight genomes to identify close to 1,700 CNVs greater than 8 kb, around a third of which were not present in the human reference genome sequence.
hmm.