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Biomedical subjects

J B Wilson

Publications and source records attributed to J B Wilson.

At least 181 records · Page 10Linked to original sources
PubMed1986

Haemoglobin Presbyterian [beta 108 (G 10) Asn----Lys] in a Spanish family.

Clinical, haematological and biochemical aspects of a new family with heterozygous haemoglobin Presbyterian [beta 108 (G 10) Asn----Lys] are described. It could be readily separated by isoelectric focusing, DEAE-cellulose chromatography and by cation exchange high-performance liquid chromatography (HPLC). The characterization of this mildly unstable haemoglobin was made by reverse-phase HPLC. This is the fourth family with Hb Presbyterian so far described.

Adult↗
PubMed1986

HB Chicago or alpha (2)136 (H19) Leu----Met beta 2 and a -G gamma-G gamma-globin gene arrangement in a black family.

Hb Chicago is a newly discovered hemoglobin variant which was present in a Black newborn baby and her father. The leucine residue at alpha 136, which normally participates in the contact with the heme group, is replaced by a methionine residue. The two heterozygotes were clinically well with normal hematological data. Isolation of the alpha X and alpha A chains by reverse phase high performance liquid chromatography and hydrolysis of these chains with dilute formic acid at 110 degrees C for 24 hours, followed by separation of the resulting peptides by reverse phase high performance liquid chromatography, greatly facilitated the final identification of the abnormality. The baby and both parents had a -G gamma-G gamma-globin gene arrangement on one chromosome (normal: -G gamma-A gamma-) which explains the high G gamma values in the Hb F of these three persons.

Amino Acid Sequence↗
PubMed1986

The identification of five rare beta-chain abnormal hemoglobins by high performance liquid chromatographic procedures.

The detection, quantitation, and characterization of five relatively rare beta chain abnormal hemoglobins mainly by high performance liquid chromatographic procedures are described. The variants involved are Hb City of Hope (beta 69 Gly----Ser), Hb Austin (beta 40 Arg----Ser), Hb Leiden (beta 6 or 7 Glu----0), Hb Louisville (beta 42 Phe----Leu), and Hb Presbyterian (beta 108 Asn----Lys). Some clinical and hematological data are also included.

Amino Acid Sequence↗
PubMed1986

Rapid cation-exchange high-performance liquid chromatographic procedure for the separation and quantitation of hemoglobins S, C, and O Arab in cord blood samples.

A rapid method for separating and quantitating hemoglobin (Hb) variants in cord blood samples using cation high-performance liquid chromatography (HPLC) is described. The procedure is a modification of a previously published method, and uses a weak cation-exchange Brownlee-3CM column and Bis-Tris-KCN-Na acetate developers. A chromatogram can be completed in 10 minutes. The slow-moving variants, Hbs S, C, and O Arab, can be completely separated from each other and are identified by their elution times relative to Hb A. Hb E elutes as a shoulder on the descending side of Hb A, which is characteristic for this variant in this procedure. Differentiation between heterozygous, homozygous, and Hb X-beta+-thalassemia conditions is easily made.

Chromatography, High Pressure Liquid↗
PubMed1985

Hb F-Forest Park, a new A gamma variant with two amino acid substitutions, 75(E19)Ile----Thr and 73(E17)Asp----Asn, which can be identified in adults by gene-mapping analysis.

The discovery is reported of a new fetal hemoglobin (Hb) variant which has an abnormal A gamma globin chain with two substitutions, namely 73(E17) Asp----Asn and 75(E19) Ile----Thr (the latter is also seen in the common A gamma T chain). This A gamma T variant was present in a female Caucasian newborn; its quantity at birth was 12.2% of the total Hb F (including F, F1 and F-Forest Park). Extensive gene-mapping analyses with a battery of restriction enzymes and probes identified normal globin gene arrangements in the baby and several relatives, but a -G gamma-G gamma-globin gene arrangement was present in the father, paternal grandmother and half-sister. The Hb F-Forest Park anomaly could be detected in the father, paternal grandfather, half-brother and the baby through digestion of their DNA's with SfaNI and hybridization with the gamma IVS-II probe, because the G----A base substitution at codon 73 leads to loss of a restriction site and to the occurrence of an abnormal fragment.

Asparagine↗
PubMed1985

Hb Doha or alpha 2 beta 2[X-N-Met-1(NA1)Val----Glu]; a new beta-chain abnormal hemoglobin observed in a Qatari female.

Structural analysis of a fast-moving hemoglobin variant, present in three members of a Qatari family, identified a Val----Glu substitution at position 1 (NA1) of the beta-chain. The introduction of this glutamic acid residue prevents the removal of the initiator methionine, thus extending the N-terminus by one residue to Met-Glu-His-Leu-Thr-. The methionine residue is blocked by an as yet not completely identified molecule. The presence of the variant in a heterozygote does not have clinical consequences.

Adult↗
PubMed1985

Hb Regina or alpha 2 beta 2 96(FG3)Leu----Val: a high oxygen affinity variant discovered by cation-exchange HPLC.

Results are reported of studies of the hemoglobin from one member of a Canadian family with a mild erythrocytosis. This variant, which accounted for about 40% of the hemoglobin, could be separated from Hb A and Hb A2 by cation-exchange chromatography. Micro methodology allowed the characterization of a Leu----Val replacement at position beta 96(FG3). Hb Regina has an increased oxygen affinity, which adequately explains the hematological observations.

Adult↗
PubMed1985

Hb F-Tokyo or alpha 2G gamma 2 34(B16)Val----Ile, a silent gamma chain variant detected by reverse phase high performance liquid chromatography.

Hb F-Tokyo with a Valine----Isoleucine replacement at position gamma 34(B16) is a G gamma chain variant which was discovered by reverse phase chromatography as this method permitted the nearly complete separation of the three types of gamma chain. The chemical characterization was greatly facilitated by the use of a larger, preparative, HPLC column which allowed the isolation of sufficient quantities of the different gamma chains.

Amino Acids↗