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Hb F-Macedonia-II [G gamma 104(G6)Lys-->Asn]: a new gamma chain variant
D Plaseska1, S Panovska-Popovska, M Lazarevski
1Macedonian Academy of Sciences and Arts Research Center for Genetic Engineering and Biotechnology, Skopje, Republic of Macedonia.
Hemoglobin
|November 1, 1994
Summary
A novel G gamma globin chain variant, characterized by a Lysine to Asparagine substitution at codon 104, was identified in a healthy newborn during newborn screening for hemoglobinopathies. This genetic finding in the G gamma gene did not appear to affect mRNA splicing.
Area of Science:
- Genetics
- Molecular Biology
- Hematology
Background:
- Newborn screening programs are crucial for early detection of hemoglobinopathies.
- Hemoglobinopathies, genetic disorders affecting hemoglobin, require accurate identification for appropriate management.
- The G gamma gene plays a role in fetal hemoglobin production.
Observation:
- A novel G gamma chain variant was detected in a healthy infant during routine newborn screening in the Republic of Macedonia.
- The variant involved a substitution of Lysine to Asparagine (AAG to AAC) at codon 104 of the G gamma chain.
- The abnormal G gamma chain constituted 32.4% of total gamma chains, quantified by reversed-phase high-performance liquid chromatography.
Findings:
- DNA sequence analysis confirmed the novel G gamma chain variant.
- Polymerase chain reaction-amplified DNA and Hph I restriction enzyme digestion confirmed the mutation's presence in the infant's mother.
- Despite the mutation occurring at the exon 2 splice site, mRNA splicing appeared unaffected.
Implications:
- This discovery expands the known spectrum of G gamma chain variants.
- Understanding G gamma gene mutations is important for characterizing fetal hemoglobin variations.
- The findings suggest that certain G gamma gene mutations may not impact mRNA processing, potentially influencing clinical presentation.