Hb f-charlotte, an aγ variant with a threonine residue in position γ75 and a glycine residue in position γ136

D. Plaseska; F. Kutlar; J. B. Wilson; Y. J. Fei; T. H.J. Huisman

doi:10.3109/03630269009046970

Hb f-charlotte, an ^aγ variant with a threonine residue in position γ75 and a glycine residue in position γ136

D. Plaseska, F. Kutlar, J. B. Wilson, Y. J. Fei, T. H.J. Huisman

Pulmonary Disease

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

Abstract

Structural analyses of an abnormal ỳ chain, present in a relative amount of ∼10% in a cord blood sample of a Black newborn baby, identified two substitutions (γ75 lle←Thr and γ136 Ala←Gly) in an apparent variant of the ^Aγ chain. Gene mapping analysis of genomic DNA and hybridization with specific probes confirmed the presence of these two mutations and provided the evidence to indicate that the abnormal γ chain was indeed a variant of^Aγ with the two listed mutations.

Original language	English (US)
Pages (from-to)	617-625
Number of pages	9
Journal	Hemoglobin
Volume	14
Issue number	6
DOIs	https://doi.org/10.3109/03630269009046970
State	Published - 1990

ASJC Scopus subject areas

Hematology
Clinical Biochemistry
Genetics(clinical)
Biochemistry, medical

Access to Document

10.3109/03630269009046970

Cite this

@article{a7636963e2c64005bad60daf9557c210,

title = "Hb f-charlotte, an aγ variant with a threonine residue in position γ75 and a glycine residue in position γ136",

abstract = "Structural analyses of an abnormal ỳ chain, present in a relative amount of ∼10% in a cord blood sample of a Black newborn baby, identified two substitutions (γ75 lle←Thr and γ136 Ala←Gly) in an apparent variant of the Aγ chain. Gene mapping analysis of genomic DNA and hybridization with specific probes confirmed the presence of these two mutations and provided the evidence to indicate that the abnormal γ chain was indeed a variant ofAγ with the two listed mutations.",

author = "D. Plaseska and F. Kutlar and Wilson, {J. B.} and Fei, {Y. J.} and Huisman, {T. H.J.}",

note = "Funding Information: This research was supported by USPHS Research Grants HLB-41544 and HLB-05168. This i s contribution #1271 from the Department of Cell and Molecular Biology a t the Medical College of Georgia i n Augusta, Georgia. Copyright: Copyright 2014 Elsevier B.V., All rights reserved.",

year = "1990",

doi = "10.3109/03630269009046970",

language = "English (US)",

volume = "14",

pages = "617--625",

journal = "Hemoglobin",

issn = "0363-0269",

publisher = "Informa Healthcare",

number = "6",

}

TY - JOUR

T1 - Hb f-charlotte, an aγ variant with a threonine residue in position γ75 and a glycine residue in position γ136

AU - Plaseska, D.

AU - Kutlar, F.

AU - Wilson, J. B.

AU - Fei, Y. J.

AU - Huisman, T. H.J.

N1 - Funding Information: This research was supported by USPHS Research Grants HLB-41544 and HLB-05168. This i s contribution #1271 from the Department of Cell and Molecular Biology a t the Medical College of Georgia i n Augusta, Georgia. Copyright: Copyright 2014 Elsevier B.V., All rights reserved.

PY - 1990

Y1 - 1990

N2 - Structural analyses of an abnormal ỳ chain, present in a relative amount of ∼10% in a cord blood sample of a Black newborn baby, identified two substitutions (γ75 lle←Thr and γ136 Ala←Gly) in an apparent variant of the Aγ chain. Gene mapping analysis of genomic DNA and hybridization with specific probes confirmed the presence of these two mutations and provided the evidence to indicate that the abnormal γ chain was indeed a variant ofAγ with the two listed mutations.

AB - Structural analyses of an abnormal ỳ chain, present in a relative amount of ∼10% in a cord blood sample of a Black newborn baby, identified two substitutions (γ75 lle←Thr and γ136 Ala←Gly) in an apparent variant of the Aγ chain. Gene mapping analysis of genomic DNA and hybridization with specific probes confirmed the presence of these two mutations and provided the evidence to indicate that the abnormal γ chain was indeed a variant ofAγ with the two listed mutations.

UR - http://www.scopus.com/inward/record.url?scp=0025561048&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025561048&partnerID=8YFLogxK

U2 - 10.3109/03630269009046970

DO - 10.3109/03630269009046970

M3 - Article

C2 - 1714434

AN - SCOPUS:0025561048

SN - 0363-0269

VL - 14

SP - 617

EP - 625

JO - Hemoglobin

JF - Hemoglobin

IS - 6

ER -

Hb f-charlotte, an ^aγ variant with a threonine residue in position γ75 and a glycine residue in position γ136

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this