Exon sequencing identified two familial pulmonary fibrosis-related genes

Southwest Center for Christine Kim Garcia and her colleagues added, carrying these mutations lead to telomere shortening, which can lead to diseases such occasional, extremely poor survival. Garcia and his colleagues on 99 patients with idiopathic pulmonary fibrosis have conducted exon sequencing. Then they focused on the 78 patients, they use a subset of Mouse ANGPTL3 ELISA Kit http://www.cusabio.com/ELISA-Kit/Mouse-Angiopoietin-related-protein-3ANGPTL3-ELISA-kit-64357.html its analysis and sequencing results with 2816 controls of European descent who were compared.

By focusing their study of mutations that may affect the coding sequence of a protein with a function, such as prematurely aborted transfer and splice site mutations, the researchers found, PARN and RTEL1 to achieve influence on the whole genome level role of the protein. The researchers noted that they proved by Sanger sequencing, in PARN, there are six heterozygous mutation destructive, while in the control group, do not have these mutations. The researchers added, PARN coding 3 'end of exon cutting.

However, the researchers found, PARN mutated two participants were found to contain the same origin - two of them have a common grandmother - which means, in fact, the researchers found that the five independent PARN new mutations, five mutations, still has a very important significance. All five loss of function mutants, are capable of producing CAF1 ribonuclease domain influence, this domain is conserved from yeast start to become domain, and which is also part of the cytoplasm deacetylation of crucial.

Meanwhile, Garcia and her colleagues found that five new heterozygous mutation - with two destructive and three missense mutations in the highly conserved RTEL1 - which are in pulmonary fibrosis patients have found. However, they are in the control group also found some RTEL1 mutations, but they still found a more destructive and missense mutations in conserved residues in the sequence. However, this was not sick five mutation carriers, the researchers explained that this may be due to penetrance of the disease caused by incomplete.

Analysis, the researchers also measured the separation of leukocytes from the circulation out of whole genomic DNA telomere length using a terminal fragment length and qPCR. They found that a mutation PARN and RTEL1 crowd than they did a spouse-related impacts, the average length of their telomeres shorter. Those who do not inherit the mutation RTEL1 PARN and family members, compared to their spouses, they also have shorter telomeres, but its length than those associated mutations relatives carry longer. The researchers noted that, in line with the inheritance of telomere length and epigenetic rule.