RESUMO
Mutations that produce glucose-6-phosphate dehydrogenase (G6PD) deficiency have been identified in samples from patients with hemolytic disease in the United States, and in G6PD-deficient samples from Greece, the Canary Islands, the Czech and Slovak Republics, South China, and in samples from the Coriell Cell Repository. Eight new mutations are described. Particularly unusual were a nonsense mutation ("G6PD Georgia"1284A), a deletion of six bases ("G6PD Stony Brook" 724-729 del) coding for two amino acids, and a deletion of the invariant dinucleotide ApG at the 3' acceptor splice site in the highly conserved sequence between intron 10 and exon 11 ("G6PD Varnsdorf"). In addition, five new missense point mutations were identified: "G6PD Cleveland"820A creates a deduced AA 274 Glu-->Lys; "G6PD West Virginia"910T AA 303 Val-->Phe; "G6PD Fushan"1004A, AA 335 Ala-->Asp; "G6PD Olomouc"1141C AA 381 Leu-->Phe; and "G6PD Praha"1166G AA 389 Glu-->Gly. All of the new mutations except for "G6PD Fushan"1004A were found in patients with hereditary nonspherocytic hemolytic anemia. A coincidental finding in the case of G6PD "West Virginia" was a C-->T transition at nucleotide 1,191. This silent mutation, Asn-->Asn, appears to be rare. Haplotype analysis of mutations in samples from the Canary Islands and South China agreed with previous findings.
Assuntos
Etnicidade/genética , Glucosefosfato Desidrogenase/genética , Haplótipos , Mutação , Anemia Hemolítica/enzimologia , Anemia Hemolítica/genética , Ilhas Atlânticas , Sequência de Bases , China , República Tcheca , Feminino , Deleção de Genes , Deficiência de Glucosefosfato Desidrogenase/genética , Grécia , Humanos , Masculino , Dados de Sequência Molecular , Mutação Puntual , Eslováquia , Estados UnidosAssuntos
Variação Genética , Hemoglobinas Anormais/genética , Adolescente , Adulto , Idoso , Sequência de Bases , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Mutação , LinhagemRESUMO
A new deletion of more than 27 kb, removing the psi zeta 1, psi alpha 2, psi alpha 1, alpha 2, alpha 1 and theta 1 globin genes has been found in four members of a Spanish family, including two patients with Hb H disease. The 5' end point of the deletion is located between the zeta and psi zeta genes, and the 3' end of the deletion is downstream of the 3' hypervariable region.
Assuntos
Globinas/genética , Talassemia/genética , Adolescente , Adulto , Criança , Deleção Cromossômica , Mapeamento Cromossômico , Cromossomos Humanos Par 16 , Sondas de DNA , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
A new hemoglobin variant with a Ser----Phe substitution at position beta 49(CD8) was discovered in two members of a family living in the Canary Islands, Spain. Detection was by polyacrylamide gel electrophoresis and by reversed phase high performance liquid chromatography. The variant, which constituted 43% and 45%, respectively, in the two heterozygotes, was slightly unstable. Its presence did not affect hematological values though there was a mild reticulocytosis.
