Hb F-Macedonia-II [G gamma 104(G6)Lys-->Asn]: a new gamma chain variant.
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Plaseska D, Panovska-Popovska S, Lazarevski M, Efremov GD
Hb F-Macedonia-II [G gamma 104(G6)Lys-->Asn]: a new gamma chain variant.
Hemoglobin. 1994 Nov;18(6):373-82.
- PubMed ID
- 7713741 [ View in PubMed]
- 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.