Hemoglobin S/hemoglobin Osler: a case with 3 beta globin chains. DNA sequence (AAT) proves that Hb Osler is beta 145 Tyr-->Asn.

Asn. -->
Autoři: Hutt PJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA., Donaldson MH, Khatri J, Fairbanks VF, Hoyer JD, Thibodeau SN, Moxness MS, McMorrow LE, Green MM, Jones RT
Zdroj: American journal of hematology [Am J Hematol] 1996 Aug; Vol. 52 (4), pp. 305-9.
Způsob vydávání: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.
Jazyk: English
Informace o časopise: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 7610369 Publication Model: Print Cited Medium: Print ISSN: 0361-8609 (Print) Linking ISSN: 03618609 NLM ISO Abbreviation: Am J Hematol Subsets: MEDLINE
Imprint Name(s): Publication: New York Ny : Wiley-Blackwell
Original Publication: New York, Liss.
Výrazy ze slovníku MeSH: Mutation*, DNA/*chemistry , Globins/*genetics , Hemoglobin, Sickle/*genetics , Hemoglobins, Abnormal/*genetics, Adolescent ; Base Sequence ; Chromosomes, Human, Pair 11 ; Exons ; Female ; Humans ; Molecular Sequence Data ; Sequence Analysis, DNA ; Twins, Dizygotic
Abstrakt: A 13-year-old African-American female with erythrocytosis and three different beta globins on electrophoresis beta A, beta S, and beta Osler, raised the possibility that one chromosome 11 might contain a duplicated beta globin gene, since there are normally only 2 beta globin genes. DNA sequence analysis showed GTG at codon 6 in exon 1, corresponding to Hb S and AAT at codon 145 in exon 3, indicating a substitution of Asn for Tyr. Thus, Hb Osler undergoes spontaneous post-translational deamidation, beta 145 Asn-->beta 145 Asp. Unmodified Hb Osler (Asn) co-migrates with Hb A on electrophoresis and co-elutes with Hb A on HPLC; therefore it has not been identified previously. All previous studies have incorrectly identified the mutation as being beta 145 (HC 2) Tyr-->Asp.
Grant Information: HL20142 United States HL NHLBI NIH HHS
Substance Nomenclature: 0 (Hemoglobin, Sickle)
0 (Hemoglobins, Abnormal)
66173-85-1 (hemoglobin Osler)
9004-22-2 (Globins)
9007-49-2 (DNA)
Entry Date(s): Date Created: 19960801 Date Completed: 19960830 Latest Revision: 20071114
Update Code: 20221213
DOI: 10.1002/(SICI)1096-8652(199608)52:4<305::AID-AJH10>3.0.CO;2-C
PMID: 8701949
Autor: Hutt PJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA., Donaldson MH, Khatri J, Fairbanks VF, Hoyer JD, Thibodeau SN, Moxness MS, McMorrow LE, Green MM, Jones RT
Jazyk: angličtina
Zdroj: American journal of hematology [Am J Hematol] 1996 Aug; Vol. 52 (4), pp. 305-9.
DOI: 10.1002/(SICI)1096-8652(199608)52:4<305::AID-AJH10>3.0.CO;2-C
Abstrakt: A 13-year-old African-American female with erythrocytosis and three different beta globins on electrophoresis beta A, beta S, and beta Osler, raised the possibility that one chromosome 11 might contain a duplicated beta globin gene, since there are normally only 2 beta globin genes. DNA sequence analysis showed GTG at codon 6 in exon 1, corresponding to Hb S and AAT at codon 145 in exon 3, indicating a substitution of Asn for Tyr. Thus, Hb Osler undergoes spontaneous post-translational deamidation, beta 145 Asn-->beta 145 Asp. Unmodified Hb Osler (Asn) co-migrates with Hb A on electrophoresis and co-elutes with Hb A on HPLC; therefore it has not been identified previously. All previous studies have incorrectly identified the mutation as being beta 145 (HC 2) Tyr-->Asp.
Databáze: MEDLINE
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