PubMed:21779184 JSONTXT

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":789,"end":792},"obj":"gene:6576"},{"id":"T1","span":{"begin":773,"end":788},"obj":"disease:C0272002"},{"id":"T2","span":{"begin":789,"end":792},"obj":"gene:6395"},{"id":"T3","span":{"begin":773,"end":788},"obj":"disease:C0272002"},{"id":"T4","span":{"begin":789,"end":792},"obj":"gene:6576"},{"id":"T5","span":{"begin":815,"end":830},"obj":"disease:C0272002"},{"id":"T6","span":{"begin":789,"end":792},"obj":"gene:6395"},{"id":"T7","span":{"begin":815,"end":830},"obj":"disease:C0272002"},{"id":"T8","span":{"begin":789,"end":792},"obj":"gene:6395"},{"id":"T9","span":{"begin":862,"end":888},"obj":"disease:C0878520"},{"id":"T10","span":{"begin":789,"end":792},"obj":"gene:6576"},{"id":"T11","span":{"begin":862,"end":888},"obj":"disease:C0878520"},{"id":"T12","span":{"begin":993,"end":996},"obj":"gene:6576"},{"id":"T13","span":{"begin":977,"end":992},"obj":"disease:C0272002"},{"id":"T14","span":{"begin":993,"end":996},"obj":"gene:6395"},{"id":"T15","span":{"begin":977,"end":992},"obj":"disease:C0272002"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"},{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"},{"id":"R6","pred":"associated_with","subj":"T10","obj":"T11"},{"id":"R7","pred":"associated_with","subj":"T12","obj":"T13"},{"id":"R8","pred":"associated_with","subj":"T14","obj":"T15"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Detection of α-thalassemia-1 Southeast Asian and Thai type deletions and β-thalassemia 3.5-kb deletion by single-tube multiplex real-time PCR with SYBR Green1 and high-resolution melting analysis.\nBACKGROUND: Prevention and control of thalassemia requires simple, rapid, and accurate screening tests for carrier couples who are at risk of conceiving fetuses with severe thalassemia.\nMETHODS: Single-tube multiplex real-time PCR with SYBR Green1 and high-resolution melting (HRM) analysis were used for the identification of α-thalassemia-1 Southeast Asian (SEA) and Thai type deletions and β-thalassemia 3.5-kb gene deletion. The results were compared with those obtained using conventional gap-PCR. DNA samples were derived from 28 normal individuals, 11 individuals with α-thalassemia-1 SEA type deletion, 2 with α-thalassemia-1 Thai type deletion, and 2 with heterozygous β-thalassemia 3.5-kb gene deletion.\nRESULTS: HRM analysis indicated that the amplified fragments from α-thalassemia-1 SEA type deletion, α-thalassemia-1 Thai type deletion, β-thalassemia 3.5-kb gene deletion, and the wild-type β-globin gene had specific peak heights at mean melting temperature (T(m)) values of 86.89℃, 85.66℃, 77.24℃, and 74.92℃, respectively. The results obtained using single-tube multiplex real-time PCR with SYBR Green1 and HRM analysis showed 100% consistency with those obtained using conventional gap-PCR.\nCONCLUSIONS: Single-tube multiplex real-time PCR with SYBR Green1 and HRM analysis is a potential alternative for routine clinical screening of the common types of α- and β-thalassemia large gene deletions, since it is simple, cost-effective, and highly accurate."}

{"project":"Allie","denotations":[{"id":"SS1_21779184_4_0","span":{"begin":449,"end":472},"obj":"expanded"},{"id":"SS2_21779184_4_0","span":{"begin":474,"end":477},"obj":"abbr"},{"id":"SS1_21779184_4_1","span":{"begin":540,"end":555},"obj":"expanded"},{"id":"SS2_21779184_4_1","span":{"begin":557,"end":560},"obj":"abbr"}],"relations":[{"id":"AE1_21779184_4_0","pred":"abbreviatedTo","subj":"SS1_21779184_4_0","obj":"SS2_21779184_4_0"},{"id":"AE1_21779184_4_1","pred":"abbreviatedTo","subj":"SS1_21779184_4_1","obj":"SS2_21779184_4_1"}],"text":"Detection of α-thalassemia-1 Southeast Asian and Thai type deletions and β-thalassemia 3.5-kb deletion by single-tube multiplex real-time PCR with SYBR Green1 and high-resolution melting analysis.\nBACKGROUND: Prevention and control of thalassemia requires simple, rapid, and accurate screening tests for carrier couples who are at risk of conceiving fetuses with severe thalassemia.\nMETHODS: Single-tube multiplex real-time PCR with SYBR Green1 and high-resolution melting (HRM) analysis were used for the identification of α-thalassemia-1 Southeast Asian (SEA) and Thai type deletions and β-thalassemia 3.5-kb gene deletion. The results were compared with those obtained using conventional gap-PCR. DNA samples were derived from 28 normal individuals, 11 individuals with α-thalassemia-1 SEA type deletion, 2 with α-thalassemia-1 Thai type deletion, and 2 with heterozygous β-thalassemia 3.5-kb gene deletion.\nRESULTS: HRM analysis indicated that the amplified fragments from α-thalassemia-1 SEA type deletion, α-thalassemia-1 Thai type deletion, β-thalassemia 3.5-kb gene deletion, and the wild-type β-globin gene had specific peak heights at mean melting temperature (T(m)) values of 86.89℃, 85.66℃, 77.24℃, and 74.92℃, respectively. The results obtained using single-tube multiplex real-time PCR with SYBR Green1 and HRM analysis showed 100% consistency with those obtained using conventional gap-PCR.\nCONCLUSIONS: Single-tube multiplex real-time PCR with SYBR Green1 and HRM analysis is a potential alternative for routine clinical screening of the common types of α- and β-thalassemia large gene deletions, since it is simple, cost-effective, and highly accurate."}