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MLPA kits

• Alpha- and Beta-globin probe mix=> Thalassemia and HPFH syndromes
• CREBBP probe mix=> Rubinstein-Taybi Syndrome
• EP300 probe mix=> Rubinstein-Taybi Syndrome
• EXT1 / EXT2 probe mix=> Hereditary Multiple Exostoses

• Alpha- and Beta-globin probe mix=> Thalassemia and HPFH syndromes
  Deletion and duplication mutations involving the human alpha- (HBA) and beta-globin (HBB) gene clusters have been implicated in alpha- and beta thalassemia and Hereditary Persistence of Fetal Hemoglobin (HPFH) syndromes (HBA: OMIM 141800; HBB / HPFH: OMIM 141900). The HBA MLPA-probe mix contains 35 probes covering a 700 kb region of the alpha-globin gene cluster. Screening 38 selected patient samples for rearrangements involving the alpha-globin gene cluster revealed deletions in 19 (six previously undescribed, including two de novo deletions) (reference 6). The HBA MLPA-probe mix was used successfully by Gergia Lahr et al., University Children's Hospital, Ulm, Germany (reference 7). The HBB MLPA-probe mix contains 50 probes covering a 500 kb region of the beta-globin gene cluster. Screening 51 selected patient samples for rearrangements involving the beta-globin gene cluster revealed deletions in 31 (three previously undescribed)(reference 6) and excluded their presence in 20.


• CREBBP probe mix=> Rubinstein-Taybi Syndrome
  Mutations in the human CREBBP gene have been shown to cause Rubinstein-Taybi syndrome (RSTS, OMIM 180849). When used to screen 92 RSTS-patients it identified a total of 36 deletion / duplication mutations (reference 5). Compared to FISH analysis using a cosmid probe set (reference 4), the MLPA probe mix revealed several hitherto undetected small deletions as well as a duplication (reference 5).


• EP300 probe mix=> Rubinstein-Taybi Syndrome
  According to Roelfsema et al (reference 5), deletions in the EP300 gene can be associated with Rubinstein-Taybi syndrome (RSTS, OMIM602700).


• EXT1 / EXT2 probe mix=> Hereditary Multiple Exostoses
  Mutations in the human EXT1 and EXT2 genes have been implicated in the inherited bone disorder, Hereditary Multiple Exostoses (EXT1: OMIM 608177; EXT2: OMIM 608210). Screening of 18 patients without detectable point mutations in the EXT1 and EXT2 genes revealed five cases with deletions of one or more exons: four in EXT1 and one in EXT2 (reference 2). The EXT1/EXT2 MLPA probe mix was used successfully by Signori et al. (reference 8).

• 1. Schouten JP et al. (2002). Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucl.Acids Res. 30: e57.
• 2. White SJ et al. (2004). Two-colour MLPA; detecting genomic rearrangements in hereditary multiple exostoses. Hum.Mutat. 24: 86.
• 3. White SJ et al. (2003). An alternative to FISH: detecting deletion and duplication carriers within 24 hours. J.Med.Genet. 40: e113.
• 4. Giles RH et al. (1997). Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3. Genomics 42: 96.
• 5. Roelfsema JH et al. (2005). Genetic heterogeneity in Rubinstein-Taybi Syndrome: mutations in both the CREBBP and EP300 genes cause disease. Am.J.Hum.Genet. 76: 572.
• 6. 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. May 13; [Epub ahead of print]. PMID: 15894596 .
• 7. Jahr et al. (2007). Codon 104(-G), a dominant ß0-thalassemia-like phenotype in a German Caucasian family is associated with mild chronic hemolytic anemia but influenced in severity by co-inherited genetic factors. Haematologica, Vol 92, Issue 9, 1264-1265.
• 8. Signori et al. (2007). A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients. Genes Chromosomes Cancer. 2007 May;46(5):470-7.

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