RESUMEN
Hemolysates of erythrocytes from more than a quarter million people in Alabama were electrophoresed on cellulose acetate, pH 8.4, and those samples exhibiting an abnormality were also electrophoresed in citrate agar, pH 6.0. The globin chains of mutants other than Hb S and C were electrophoresed in urea-mercaptoethanol buffers at both pH 8.9 and pH 6.0, and 60 of them were also analyzed structurally. Of about 6000 samples from whites, only three contained abnormal hemoglobins--Hb D Los Angeles, Hb J Baltimore, and one unidentified. Of 249,000 samples from blacks, about 29,000 contained electrophoretically detectable abnormalities, most of them associated with Hb S or C, present in a frequency of about 9% and 3%, respectively. About 1000 samples resolved into patterns of potential clinical significance. Twenty other mutant hemoglobins were detected, in various genetic combinations in 164 kindreds; four of these-Hb Alabama, Montgomery, Titusville, and Mobile--were previously unknown. The methods used are rapid, economical, and well suited for large scale surveys. They provide highly specific characterizations of many mutant hemoglobins, and no discrepancies were found between the presumptive identifications based on these characterizations and the definitive identifications obtained from structural analyses.
Asunto(s)
Genética de Población , Hemoglobinas Anormales/análisis , Alabama , Población Negra , California , Electroforesis , Frecuencia de los Genes , Hemoglobina C/análisis , Hemoglobina J/análisis , Hemoglobina Falciforme/análisis , Humanos , Maryland , MutaciónRESUMEN
A new haemoglobin variant with a decreased oxygen affinity is described, in which the substitution, alpha 94 (G1) Asp replaced by Asn, affects the alpha1beta2 contact alpha1G1-beta2G4. The relevance of this variant to our understanding of the importance of the hydrogen bond between alpha1G1 and beta2G4 in Perutz's model of oxyhaemoglobin A is discussed.
Asunto(s)
Hemoglobinas Anormales , Oxígeno/sangre , Asparagina/análisis , Ácido Aspártico/análisis , Sitios de Unión , Preescolar , Femenino , Hemoglobinas , Humanos , Kansas , Cinética , Sustancias Macromoleculares , Fragmentos de Péptidos/análisis , Ácido Fítico/sangre , Unión Proteica , TexasRESUMEN
A new hemoglobin variant found in a mother and her child was characterized by column chromatography of the tryptic hydrolysate of the aminoethylated, glycinamidated beta-chain, followed by chymotryptic digestion of the abnormal beta T-9 peptide and amino acid analyses. It was shown to be alpha2beta2 73(E17)Asp replaced by Val and named by Hb Mobile.
Asunto(s)
Hemoglobinas Anormales/análisis , Adulto , Alabama , Secuencia de Aminoácidos , Ácido Aspártico/análisis , Preescolar , Femenino , Variación Genética , Humanos , Linaje , Fragmentos de Péptidos/análisis , Valina/análisisRESUMEN
Raw and pasteurized milk, as well as oysters collected from approved growing areas, were cultured for the presence of acid-fast organisms. Mycobacteria and nocardia were isolated from 68.8% of the raw milks, but none from the 43 pasteurized specimens. The 66 isolations were identified as follows: one M. marinum, two M. scrofulaceum, nine M. gordonae, seven M. flavescens, nine M. avium---M. intracellulare complex, 18 M. terrae complex, 12 M. fortuitum, six M. "parafortuitum" complex, and two Nocardia asteroides. From nine pooled samples of oysters 15 mycobacterial strains were cultured. These strains were identified as follows: three M. scrofulaceum, five M. gordonae, two M. avium--M. intracellulare complex, two M. terrae complex and three M. "parafortuitum" complex.
Asunto(s)
Leche/microbiología , Mycobacterium/aislamiento & purificación , Ostreidae/microbiología , Animales , Técnicas Bacteriológicas , BovinosRESUMEN
The amino acid substitutions in two new hemoglobins found by electrophoretic screening during a survey in Alabama have been determined by column chromatography and amino acid analyses of their tryptic peptides. They are hemoglobin Alabama (beta 39(C 5)Gln leads to Lys) and hemoglobin Montgomery (alpha 48(CD 6) Leu leads to Arg). No harmful symptoms have been attributed to the presence of either hemoglobin.