A New, Electrophoretically Silent, Fetal Hemoglobin Variant: Hb F-Calabria [Gγ118(GH1)Phe→Leu]

Leu] is a new fetal hemoglobin variant that was found during routine screening for abnormal hemoglobins in a newborn of Calabrian (Southern Italy) ancestry. The variant chain was identified (acid urea gel electrophoresis of dissociated globin chains in the presence of Triton X-100, and by reversed phase high performance liquid chromatography) as a slightly hydrophilic Ggamma chain. Sequencing of the polymerase chain reaction-amplified exon 3 of the Ggamma-globin gene demonstrated the TTC-->CTC mutation at codon 118 leading to the Phe-->Leu conservative substitution at position GH1. A molecular modeling study supports that the variant might not have clinical implications. This is the 40th example of a Ggamma chain variant. -->

ISSN:	1532-432X 0363-0269
DOI:	10.3109/03630260009002272
Přístupová URL adresa:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5e3840744f1e7fbcbfb2bd732b300d3 https://doi.org/10.3109/03630260009002272
Přírůstkové číslo:	edsair.doi.dedup.....e5e3840744f1e7fbcbfb2bd732b300d3
Autor:	M C De Rosa, Bruno Lucio Masala, Laura Manca, L. Cherchi, Bruno Giardina
Rok vydání:	2000
Předmět:	Models Molecular Octoxynol Hemoglobins Abnormal Clinical Biochemistry Exon Neonatal Screening Fetal hemoglobin Humans Point Mutation Urea Globin Polyacrylamide gel electrophoresis Chromatography High Pressure Liquid Fetal Hemoglobin Genetics (clinical) Polymerase Gel electrophoresis biology Point mutation Biochemistry (medical) Infant Newborn Genetic Variation Exons Sequence Analysis DNA Hematology Molecular biology Globins Abnormal hemoglobin Amino Acid Substitution Italy Biochemistry biology.protein Electrophoresis Polyacrylamide Gel
Zdroj:	Hemoglobin. 24:37-44
ISSN:	1532-432X 0363-0269
DOI:	10.3109/03630260009002272
Popis:	Hb F-Calabria [Ggamma118(GH1)Phe-->Leu] is a new fetal hemoglobin variant that was found during routine screening for abnormal hemoglobins in a newborn of Calabrian (Southern Italy) ancestry. The variant chain was identified (acid urea gel electrophoresis of dissociated globin chains in the presence of Triton X-100, and by reversed phase high performance liquid chromatography) as a slightly hydrophilic Ggamma chain. Sequencing of the polymerase chain reaction-amplified exon 3 of the Ggamma-globin gene demonstrated the TTC-->CTC mutation at codon 118 leading to the Phe-->Leu conservative substitution at position GH1. A molecular modeling study supports that the variant might not have clinical implications. This is the 40th example of a Ggamma chain variant.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5e3840744f1e7fbcbfb2bd732b300d3 https://doi.org/10.3109/03630260009002272 Zobrazit plný text záznamu