| Mutations of the gene for BLM have previously been associated with Bloom's syndrome, a disorder characterized by growth deficiency, chromosomal instability, and a predisposition to various cancers. Studies have implicated the BLM protein, an enzyme with potential roles in DNA replication, recombination, and chromosome segregation. |
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| Catalog # | B2163-07 |
| Bloom syndrome is a rare autosomal recessive disorder characterized by telangiectases and photosensitivity, growth deficiency of prenatal onset, variable degrees of immunodeficiency, and increased susceptibility to neoplasms of many sites and types. The New York dermatologist David Bloom first described the syndrome in 1954. The syndrome is caused by a mutation in the gene designated BLM, traced to band 15q26.1. The protein encoded by the normal gene has DNA helicase activity and functions in the maintenance of genomic stability. Increased sister chromatid exchanges and chromosomal instability also occur, which is assumed to be responsible for the phenotype and the cancer predisposition. In 1989, Nicotera et al suggested that the major biochemical defect in persons with Bloom syndrome is chronic overproduction of the superoxide radical anion. They thought that inefficient removal of peroxide might be responsible for the high rates of sister chromatid exchange and chromosomal damage in Bloom syndrome cells. More than 170 case reports have been made. The frequency of parental consanguinity is much greater than in the general population. |
| Bloom syndrome is more common in Ashkenazi Jews but has been reported in Japan and other countries. Early diagnosis of leukemia is, at present, not known to improve the chances of curative therapy. Frequent hematologic examinations in children is not advised for fear of untoward psychologic effects. Allogeneic marrow grafting has not been performed in Bloom syndrome patients. Men with Bloom syndrome are sterile; women have reduced fertility and a shortened reproductive span. Bloom syndrome patients who become pregnant are at high risk for premature delivery. Intelligence is usually normal, although mild deficiency has occurred in a few affected persons. Diabetes occurs in approximately 10% of individuals with Bloom syndrome. Bloom syndrome is more common in eastern European Ashkenazi Jews. The male-to-female ratio is 1.3 | 1. This condition occurs in the first few months of life. |
| Applications | Suitable for use in Western Blot. Immunoprecipitation and Immunohistochemistry (Frozen). Other applications not tested. |
| Recommended Dilution | Western Blot: 1:1,000-1:10,000 |
| Immunoprecipitation:1-4ug/mg protein |
| Optimal dilution determined by the researcher. |
| Recommended Secondary Reagents | Sheep anti rabbit IgG: HRP |
| Storage and Stability | May be stored at 4°C for short-term only. For long-term storage and to avoid repeated freezing and thawing, aliquot and add glycerol (40-50%). Freeze at -20°C. Aliquots are stable for at least 12 months at -20°C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer. |
| CAS Number | n/a |
| Clone Type | Polyclonal |
| Host | Rabbit |
| Source | Human |
| Concentration | ~1mg/ml |
| Form | Supplied as a liquid in Tris-citrate/phosphate, pH 7.4, 0.02% sodium azide. |
| Purity | Purified by affinity chromatography. |
| Immunogen | Synthetic peptide corresponding to a region of human BLM encoded within exon 22. |
| Specificity | Specific for human Bloom Syndrome (BLM). |
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| Important Note | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications without the expressed written authorization of United States Biological. |
