title: Hb F-Macedonia-II [G gamma 104(G6)Lys-->Asn]: a new gamma chain variant.
abstract: In the course of our newborn screening program for the presence of hemoglobinopathies in the Republic of Macedonia, we have detected a new G gamma chain variant with a Lys-->Asn or AAG-->AAC substitution at codon 104. The variant was found in a blood sample from a healthy baby boy of Macedonian nationality. The abnormal chain was quantitated at 32.4% of the total gamma chains by reversed phase high performance liquid chromatography. The characterization of the variant was by sequence analysis of polymerase chain reaction-amplified DNA. The presence of the mutation in the mother was confirmed by Hph I restriction enzyme digestion of the polymerase chain reaction-amplified DNA fragment. Although the mutated G is the last nucleotide of exon 2 and part of the donor splice site sequence of the second intervening sequence of the G gamma gene, it appears that the splicing of the mRNA in this variant is not altered.
authors.affiliation: Macedonian Academy of Sciences and Arts Research Center for Genetic Engineering and Biotechnology, Skopje, Republic of Macedonia.
authors.forename: D
authors.initials: D
authors.lastname: Plaseska
authors.forename: S
authors.initials: S
authors.lastname: Panovska-Popovska
authors.forename: M
authors.initials: M
authors.lastname: Lazarevski
authors.forename: G D
authors.initials: GD
authors.lastname: Efremov
mesh_terms: D000328:Adult; D001483:Base Sequence; D001797:Blood Protein Electrophoresis; D002851:Chromatography, High Pressure Liquid; D016384:Consensus Sequence; D004252:DNA Mutational Analysis; D004591:Electrophoresis, Polyacrylamide Gel; D004592:Electrophoresis, Starch Gel; D005188:False Negative Reactions; D005260:Female; D005914:Globins / Q000235:genetics*; D006115:Greece; D006455:Hemoglobins, Abnormal / Q000235:genetics / Q000302:isolation & purification*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D016415:Sequence Alignment; D012689:Sequence Homology, Nucleic Acid
chemical_list: D006455:Hemoglobins, Abnormal; C093037:hemoglobin F-Macedonia-II; C059060:hemoglobin Monroe; C044399:hemoglobin Camperdown; D005914:Globins