RESUMO
In order to determine the prevalence and molecular characterization of hemoglobinopathies in the Wuxi region of Jiangsu Province in the People's Republic of China (PRC), a total of 10,297 healthy people selected from a regional hospital were screened. Hemoglobin (Hb) electrophoresis, complete blood cell (CBC) count, polymerase chain reaction (PCR), DNA sequencing, reverse dot-blot and multiplex ligation-dependent probe amplification (MLPA) were used to detect Hb variants, thalassemias and hereditary persistence of fetal Hb (HPFH). Two thousand and twenty-one adult subjects were screened for thalassemia, five cases were identified as α-thalassemia (α-thal) carriers including three cases of the -α(3.7) (rightward) deletion, one case of the - -(SEA) deletion and one case of ß-thal [IVS-II-654 (C>T), (HBB: c.316-197C>T)]. The incidence of Hb variants, thalassemia and HPFH/δß-thal were 0.136% (14/10,297), 0.25% (5/2021) and 0.0001% (1/10,297), respectively. Eight genotypes of Hb variants were found, including Hb E [ß26(B8)GluâLys, GAG>AAG; HBB: c.79G>A], Hb J-Bangkok [ß56(D7)GlyâAsp (GGC>GAC); HBB; c.170G>A], Hb G-Coushatta [ß22(4)GluâAla (GAA>GCA); HBB: c.68A>C], Hb Queens [α34(B15)LeuâArg (CTG>CGG) (α2 or α1); HBA2: c.104T>G (or HBA1)], Hb I [α16(A14)LysâGlu, AAG>GAG (α1); HBA1: c.49A>G], Hb Beijing [α16(A14)LysâAsn (AAG>AAC or AAT) (α2 or α1); HBA2: c.51G>C (or HBA1) or 51G>T (or HBA1)], Hb Ube-2 [α68(E17)AsnâAsp (AAC>GAC) (α2 or α1); HBA2: c.205A>G (or HBA1)] and Hb G-Taipei [ß22(B4)GluâGly (GAA>GGA); HBB: c.68A>G]. A Sicilian δß(0)-thal, identified for the first time in Asia, was also found in this survey.
Assuntos
Inquéritos Epidemiológicos/métodos , Hemoglobinopatias/genética , Hemoglobinas/genética , Epidemiologia Molecular/métodos , Mutação , Adulto , Povo Asiático/genética , Contagem de Células Sanguíneas , China/epidemiologia , Análise Mutacional de DNA , Feminino , Geografia , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/etnologia , Hemoglobinas Anormais/genética , Humanos , Masculino , Reação em Cadeia da Polimerase , Talassemia/etnologia , Talassemia/genéticaRESUMO
A convenient and efficient one-pot synthesis of cyclopamine from peimisine is described. The key steps involve one-pot hydrazination and subsequent Bamford-Stevens reaction. The mild reaction conditions, high overall yield as well as an easy purification indicate this process can potentially be used for the scale-up preparation of cyclopamine.
