科研之友
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摘要
Background and objetives: The two structural genes encoding the human alpha-globin chains are located on the short arm of chromosome 16. Normal individuals have four genes alpha (alpha alpha/alpha alpha). alpha-thalassemias are usually produced by the deletion of one, two, three, or four a genes. Deletion of both alpha genes within the same chromosome (alpha degrees thalassemia) is commonly observed in individuals from the Mediterranean basin and Southeast Asia.
Material and methods: We study two natural families of Madrid with microcytic hypochromic anemia. The DNA extracted from peripheral blood leukocytes was digested with different restriction enzymes and hybridization with probes of gene cluster alpha. The ends of the deletion were characterized by combining the techniques of Southern blot, PCR and FISH.
Results: We present two new mutations of alpha degrees thalassemia in two Spanish families, not previously described in the literature. The deletion (-(ED)) is similar to 80 kb with the point of bread 5' in the coordinate +100 (+/- 3 kb), whereas the end 3'HVR places in the coordinate 178 +/- 750 bp. The second deletion (-(GP)) is more extensive, with loss of 145 kb, placing the deletion in the end 5' between the coordinates 34 and 37, respecting therefore the telomere. In the centromeric region the point of break places as the previous one in the coordinate 178 +/- 1.4 bp.
Conclusions: In both mutations both alpha genes were deleted, the gene theta and the region HS40. The exact identification of these deletions is essential to determine the function of the genes alpha with a view to a possible genetic diagnosis.
- 出版日期2011-5-28
