Single-Tube Multiplex-PCR Screen for Anti-3.7 and Anti-4.2 α-Globin Gene Triplications

Unusual Rearrangement of the α-Globin Gene Cluster Containing Both the −α3.7 and αααanti-4.2 Crossover Junctions: Clinical Diagnostic Implications and Possible Mechanisms

“…This anomalous fragment was not consistent with any known deletion or triplication of the ␣-globin locus and was attributed initially to a polymorphism on one allele that abolished the recognition sequence at an internal BglII site located between the ␣ 2 -and ␣ 1 -globin genes. The DNA of both patients was also analyzed with multiplex-PCR assays to detect common ␣-globin gene deletions and triplications, as described previously (9,10 ). Surprisingly, the PCR results showed that they were positive for the Ϫ␣ 3.7 and ␣␣␣ anti-4.2 alleles (Fig.…”

Microsatellite Markers within —SEA Breakpoints for Prenatal Diagnosis of HbBarts Hydrops Fetalis

“…Several techniques based on PCR amplification of normal and affected chromosomes (26 -28 ) have been developed to more rapidly identify globin gene mutations. These techniques include single-strand conformation polymorphism analysis, denaturing gradient gel electrophoresis (29,30 ), direct sequencing, amplification refractory mutation system PCR (31 ), reverse dot-blot analysis (32 ), and Gap-PCR, which is based on the multiplex amplification of junctional segments of several different breakpoints (33)(34)(35)(36). The latter technique enables screening and diagnosis of several common deletions in a single test.…”

Beta talasemia intermedia: características clínicas y estudio molecular. Serie de casos clínicos

“…8,9 La presencia de genes a triplicados-cuadruplicados anti-3,7 fue analizada por PCR según ha sido descrito previamente y los genes a triplicados/cuadriplicados generados por mecanismos diferentes al que da origen al alelo anti-3,7 fueron identificados por amplificación de sondas dependiente de ligandos múltiples (Multiplex Ligation-dependent Probe Amplification; MLPA, por sus siglas en inglés), utilizando el kit comercial Salsa MLPA P140B HBA (MRCHolland). 10 La variante genética HBG2: c.-211C>T (-158C>T, rs7482144) fue analizada por PCR-RFLP (Restriction Fragment Length Polymorphism; polimorfismos en la longitud de los fragmentos de restricción), utilizando la enzima de restricción X m n I . 11 L a s v a r i a n t e s g e n é t i c a s H B S 1 L -MYB rs9399137 T>C y BCL11A rs11886868 T>C y rs1427407 G>T se analizaron por PCRSecuenciación en el Ospedale Regionale Microcitemie, Cagliari, Italia.…”