Genotyping for known Mediterranean  -thalassemia point mutations using a multiplex amplification refractory mutation system

Lacerra, Giuseppina; Musollino, Gennaro; Noce, Francesca Di; Prezioso, Romeo; Carestia, Clementina

doi:10.3324/haematol.10736

Cited by 25 publications

(19 citation statements)

References 8 publications

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“…DNA extraction was performed with the saltingout method. The presence of the most common ␣-thalassemia deletions (-␣3.7, -␣4.2, --MED, -(␣)20.5) and point mutations were excluded with gap-PCR 5 and multiplex ARMS 6 respectively. DGGE analysis identified an anomalous pattern in the amplicon containing the third exon of the ␣2 globin gene.…”

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confidence: 99%

Hb Foggia or 117(GH5)Phe -> Ser : a new 2 globin allele affecting the Hb-AHSP interaction

Lacerra¹,

Scarano²,

Musollino³

et al. 2008

Haematologica

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LETTERS TO THE EDITORHb Foggia or ␣ ␣117(GH5)Phe→ →Ser: a new ␣ ␣2 globin allele affecting the ␣ ␣Hb-AHSP interaction We report a novel ␣ ␣2-globin gene allele with the mutation cod 117 TTC>TCC or ␣ ␣117(GH5)Phe>Ser detected in three carriers with ␣ ␣-thalassemia phenotype. The mutated mRNA was present in the reticulocytes in the same amount as the normal one, but no chain or hemoglobin variant were detected. Most likely the amino acid substitution impairs the interaction of the ␣ ␣-chain variant with the AHSP and prevents its stabilizing effect, thus leading to the ␣ ␣-chain pool reduction.

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confidence: 99%

Hb Foggia or 117(GH5)Phe -> Ser : a new 2 globin allele affecting the Hb-AHSP interaction

Lacerra¹,

Scarano²,

Musollino³

et al. 2008

Haematologica

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“…To detect common mutations of ATP7B mutations in the south of Iran, a procedure such as the M-ARMS is efficient and practical, because several ATP7B mutations can be simultaneously screened. ARMS procedure which detects several mutations of a given gene in different primer Multiplexes is available and used in clinical diagnoses (20-22). Therefore it would be possible to increase the detection of ATP7B gene mutations in the south of Iran by adding additional appropriate primer Multiplexes.…”

Section: Discussionmentioning

confidence: 99%

Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease

Dastsooz¹,

Imanieh²,

Dehghani³

et al. 2013

Hepat Mon

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BackgroundWilson disease is a rare disorder of copper metabolism due to mutation in ATP7B gene. Proper counseling of patients with Wilson disease, and their families necessitates finding mutation in ATP7B gene. Finding mutations in ATP7B gene with 21 exons, and more than 500 mutations is expensive and time-consuming.ObjectivesThe aim of this study was to provide a simple multiplex amplification refractory mutation system PCR (M-ARMS-PCR) for screening eight common mutations in ATP7B gene.Patients and MethodsTwo sets of ARMS mutant and normal specific primer pairs were designed for genotyping of p.R778L, p.R969Q, p.H1069Q, and p.3400delC mutations as Set 1 and p.W779G, c.3061-1G > A, p.I1102T, and p.N1270S mutations as Set 2. The Multiplex ARMS assay was then subsequently tested in 65 patients with Wilson disease with known and unknown ATP7B mutations.ResultsUsing these two sets, we identified H1069Q mutation in four patients, c.2335T > G mutation in three, c.3061-1G > A splice site mutation in five, c.3305T > C mutation in one, and c.3809A > G mutation in two patients.ConclusionsThe Multiplex ARMS assay used in this study can be an efficient, reliable, and cost effective method as a primary screen for patients with Wilson disease.

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“…Several PCR-based approaches have been developed for the detection of common deletional and nondeletional a-thalassemia mutations. Multiplex GAP-PCR assays including up to seven a-thalassemia deletional alleles or common nondeletional alleles have been described (Chong et al, 2000a;Eng et al, 2001;Tan et al, 2001;Liu et al, 2004;Lacerra et al, 2007). However, incorporation of the clinically significant HbCS mutation into a multiplex GAP-PCR assay has not been previously reported.…”

Section: Discussionmentioning

confidence: 99%

Application of an expanded multiplex genotyping assay for the simultaneous detection of Hemoglobin Constant Spring and common deletional α‐thalassemia mutations

Kidd¹,

Azimi²,

Lubin³

et al. 2010

Int J Lab Hematology

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Hemoglobin Constant Spring (HbCS) is the most common nondeletional alpha-thalassemia variant causing HbH disease, making its detection crucial in populations at risk. Universal newborn screening for HbH is carried out in California. Identification of alpha-thalassemia genotypes responsible for HbH and HbH-CS requires rapid, accurate and cost-effective genotyping methods suitable for population screening. We incorporated the HbCS mutation into our existing seven-plex genotyping assay for common alpha-thalassemia deletions. To assess the feasibility and diagnostic utility of this expanded multiplex gap-PCR assay, we determined genotypic frequencies of HbCS in samples referred for alpha-thalassemia testing between 1 January 2006 and 31 December 2008. During the 3-year study period, 1436 samples were genotyped for alpha-thalassemia. HbH-CS accounted for 23 (13%) of the 176 cases of HbH disease identified. In a subset of 145 newborns referred by the California NBS program with an elevated Hb Bart's level at birth, HbH disease was confirmed in 134 (93%) and HbH-CS identified in 13 (10%) of these. This expanded genotyping assay has proven to be a rapid, reliable and clinically useful diagnostic tool for the detection of HbH-CS disease.

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Genotyping for known Mediterranean -thalassemia point mutations using a multiplex amplification refractory mutation system

Cited by 25 publications

References 8 publications

Hb Foggia or 117(GH5)Phe -> Ser : a new 2 globin allele affecting the Hb-AHSP interaction

Hb Foggia or 117(GH5)Phe -> Ser : a new 2 globin allele affecting the Hb-AHSP interaction

Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease

Application of an expanded multiplex genotyping assay for the simultaneous detection of Hemoglobin Constant Spring and common deletional α‐thalassemia mutations

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