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SALSA MLPA KIT P102 HBB
BETA-ZERO-THALASSEMIA is caused by the absence of beta chain of hemoglobin. When reduced amounts of betal globin are also detected, the disorder is named BETA-PLUS-THALASSEMIA. Mutant beta globin causes SICKLE CELL ANEMIA. The human beta globin gene cluster located on chromosome 11 spans about 45 kb and includes 5 functional genes and 1 pseudogene. The chromosomal order of the genes is: 5'- epsilon, gamma G, gamma A, beta 1 pseudogene, delta, beta -3'. These beta-like genes have the same overall exonic structure, leading to the conclusion that they are derived from one ancestral gene. The epsilon and the 2 gamma globin genes are expressed in early embryonic and fetal erythroid tissues, while delta and beta globin genes are expressed in adult life. Two epsilon chains combine with two zeta chains to constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form the embryonic Hb Gower II. Two gamma chains combine with two alpha chains to make fetal hemoglobin HbF. And, two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Sickle cell anemia and beta thalassemia result from mutation and absence, respectively, of beta globin chain. This HBB MLPA kit contains MLPA probes for all HBB exons. Besides many probes for the other globin genes on 11p15.5 are present as well as probes for the upstream regulatory sequences. This probemix can be used to detect copy number changes in the HBB region. It will not detect most point mutations!
Full mix description (pdf)
Last change in probe mix content: Lot 0508 (May 2008) Current Lot Number.: Lot 0508
IMPORTANT NOTICE: MLPA kits are sold by MRC-Holland for research purposes and to demonstrate the possibilities of the MLPA technique. This kit is not CE/FDA certified for use in diagnostic procedures. Salsa MLPA kits are supplied with all necessary buffers and enzymes. Purchase of the Salsa MLPA test kits includes a limited license to use these products for research purposes. The use of this MLPA kit requires a thermocycler with heated lid and sequence type electrophoresis equipment. Different fluorescent PCR primers are available. The MLPA technique has been first described in Nucleic Acid Research 30, e57 (2002)
References Successful deletion / duplication screening of the beta-globin genomic region using MLPA has been described by Harteveld CL et al (2005). Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassemia characterised by high resolution multiplex ligation-dependent probe amplification. J.Med.Genet. 42:922-931. Note that the P102 SALSA MLPA probemix differs from the probemix used by Harteveld et al.
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