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SALSA MLPA KIT P140 HBA
[http://www.geneclinics.org/profiles/hht/details.html]
The human alpha globin gene cluster is located on chromosome 16 and spans about 30 kb. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, while they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some non-deletion alpha thalassemias have also been reported. HS-40 is the major regulatory element of the human alpha-globin locus and is located 40 kb upstream the zeta-globin gene. Deletion of only the HS40 region has also been described. This SALSA MLPA kit is designed to detect copy number changes of 24 different sequences in the HBA region. In addition, the probemix contains one probe that is specific for the presence of the Constant Spring mutation. This SALSA MLPA kit is designed to detect deletions / duplications in the HBA gene cluster. Heterozygote deletions of probe recognition sequences will be apparent by a 35-50% reduced relative peak area of the amplification product of that probe. The two probes that detect a sequence present in both HBA1 as well as HBA2 (142 & 166 nt) will show a decrease in signal of only 20-25% in samples of individuals with three instead of the usual four HBA copies. Mutations / polymorphisms very close to a probe ligation site may also result in a reduced relative peak area. Apparent deletions detected by a single probe will therefore always require confirmation by other methods. Mutations that do not result in copy number changes of the small (~60 nt) sequences detected by the MLPA probes will not be detected with this MLPA kit. Individuals with an ?- / ??? genotype will give a normal peak pattern.
Full mix description (pdf)
Last change in probe mix content: Lot 0408 (April 2008) Current Lot Number.: Lot 0408
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 alpha-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 this P140 SALSA MLPA probemix differs from the probemix used by Harteveld et al.
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