Integrin is a integral membrane protein consisting of α and one β-chain from the chain to be involved in signal transduction to the cell surface through cell adhesion and are known. II-binding integrin I-domain comprising a binding 10 and β1 integrin chain to form an expression collagen in cartilage tissue. Integrin is a integral membrane protein consisting of α and one β-chain from the chain to be involved in signal transduction to the cell surface through cell adhesion and are known. II-binding integrin I-domain comprising a binding 10 and β1 integrin chain to form an expression collagen in cartilage tissue.

Check the array CGH data, taking into account the addition of TAR syndrome patients, with the mapping of two BAC clones deleted region 1q21.1, we performed FISH analysis. The intermediate results of the fish, I have to confirm the deletion of 500 kilobytes chromosome 1q21.1-on in patients of all studies of TAR syndrome. RP11-258G05 BAC clones distal whereas showed two signals from the position to delete the remote interruption, the signal detected in the medium-term indicators of patients with (in the Delete neighboring interruption) BAC clone RP11-698N18 are. However, we show that the cover BAC clone RP11-258G05, remote breakpoint signal is weak at all times. In this way, the result of the fish, I was confirmed 500 kilobytes to remove ~ chromosome 1q21.1 in the middle. Deviation FISH signals were identified in two families: two signals of strength equality of the RP11-258G05 probe and a distal deletion of RP11-698N18 is expected for these observed in 20 patients, patient 7, 1 staining I shows the complete deletion of BAC clones of two of the body 1.

This indicates that the breakpoints distal is variable, typical delete when compared to patients with 7, these results are patients less than 20. In spite of the bearing, the 20 patients presented a severe phenotype, including deletion of the minimum, the involvement of the lower limbs and phocomelia, an important area of ​​TAR syndrome, covered by RP11-tapir is located in the proximal RP11-293J20 and 698N18, which indicates that it is located within an area are. In order to investigate the telomere break point further, we performed QPCR analysis of the area was removed from the patient 20 narrow the breakpoint region POLR3C gene of 2,5 KB between 144308167 bp and 144 305 643 of 1 on chromosome position was. In response to the 59 affected and 20 patients of TAR syndrome, the sum of the members of the family, was examined by fish. Because we prepare for mid-term can not be used because of the 31 people who are creating the 1q21.1 region test QPCR analysis. TAR syndrome, and deletion was detected by QPCR in 10 patients from 10 different with 6 family of 21. In order to exclude the point mutation alleles not following others, located in the deletion within in three patients, gene 10 (HFE2, LIX1L, PIAS3, ANKRD35, ITGA10, RBM8A, PEX11B, POLR3GL, TXNIP we TAR syndrome that analyzed the coding sequence of GNRR2) and. We do not exist in all patients of the test TAR syndrome mutations that are not found in the control population, and found a polymorphism of some.

Integrin is a integral membrane protein consisting of α and one β-chain from the chain to be involved in signal transduction to the cell surface through cell adhesion and are known. I-domain containing a 10 in combination with (ITGB1) integrin beta for the formation of type II collagen-binding integrin one chain expressed in cartilage tissue.

In the presence of both thumbs by bilateral radial aplasia hypomegakaryocytic and thrombocytopenia characterization – thrombocytopenia absent radius (TAR) syndrome,. Incidence of milk intolerance and congenital heart disease is high frequent other organizations. Evidence of autosomal recessive inheritance comes from individuals and families who was born to parents that are not affected, the impact of multiple, observation of several other claims a more complex pattern of inheritance. In this study, we describe the microdeletion of 200 kilobytes between the general quality of chromosome 1q21.1 in 30 patients all tested in TAR syndrome detected by comparative genomic hybridization microarray-based. Analysis of the parents showed that they had de novo generation of 25% of affected individuals this Delete. Interestingly, we observed the legacy of deletion of a mother and a father. It argues for a specific role of micro-deletion in the pathogenesis of TAR syndrome is the absence of this deletion in the cohort of control subjects. We hypothesized TAR syndrome that is associated with the chromosome 1q21.1 deletion, but still, it produces a phenotype of unknown (mTAR) modifier in the presence of the only additional .