Hb Hekinan observed in three chinese from macau; identification of the gag→gat mutation in the αl-globin gene

W. Zhao, J. B. Wilson, B. B. Webber, Abdullah Kutlar, G. P. Tamagnini, B. Kuan, T. H.J. Huisnan

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

Hb Hekinan, an α chain variant that is characterized by a Glu←Asp mutation at position α 27, was observed in three Chinese females attending a prenatal clinic in Macau. The relative quantities of the stable hemoglobin were 13-14% (average 13.3%; its identification was greatly aided by the separation and purification of the peptides by reversed phase high performance liquid chromatography. Dot-blot analysis of amplified DNA with 32p-labeled probes located the mutation in codon 27 of the minor α1-globin gene; the change involved a GAG (coding for glutamic acid) to GAT (coding for aspartic acid) mutation.

Original languageEnglish (US)
Pages (from-to)627-635
Number of pages9
JournalHemoglobin
Volume14
Issue number6
DOIs
StatePublished - Jan 1 1990

Fingerprint

Macau
Globins
High performance liquid chromatography
Aspartic Acid
Purification
Glutamic Acid
Hemoglobins
Genes
Peptides
Mutation
DNA
Reverse-Phase Chromatography
Codon
High Pressure Liquid Chromatography
GAT
hemoglobin Hekinan

ASJC Scopus subject areas

  • Hematology
  • Genetics(clinical)
  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Hb Hekinan observed in three chinese from macau; identification of the gag→gat mutation in the αl-globin gene. / Zhao, W.; Wilson, J. B.; Webber, B. B.; Kutlar, Abdullah; Tamagnini, G. P.; Kuan, B.; Huisnan, T. H.J.

In: Hemoglobin, Vol. 14, No. 6, 01.01.1990, p. 627-635.

Research output: Contribution to journalArticle

Zhao, W. ; Wilson, J. B. ; Webber, B. B. ; Kutlar, Abdullah ; Tamagnini, G. P. ; Kuan, B. ; Huisnan, T. H.J. / Hb Hekinan observed in three chinese from macau; identification of the gag→gat mutation in the αl-globin gene. In: Hemoglobin. 1990 ; Vol. 14, No. 6. pp. 627-635.
@article{39f5fa8779d24dd9a007c94e8d2eb386,
title = "Hb Hekinan observed in three chinese from macau; identification of the gag→gat mutation in the αl-globin gene",
abstract = "Hb Hekinan, an α chain variant that is characterized by a Glu←Asp mutation at position α 27, was observed in three Chinese females attending a prenatal clinic in Macau. The relative quantities of the stable hemoglobin were 13-14{\%} (average 13.3{\%}; its identification was greatly aided by the separation and purification of the peptides by reversed phase high performance liquid chromatography. Dot-blot analysis of amplified DNA with 32p-labeled probes located the mutation in codon 27 of the minor α1-globin gene; the change involved a GAG (coding for glutamic acid) to GAT (coding for aspartic acid) mutation.",
author = "W. Zhao and Wilson, {J. B.} and Webber, {B. B.} and Abdullah Kutlar and Tamagnini, {G. P.} and B. Kuan and Huisnan, {T. H.J.}",
year = "1990",
month = "1",
day = "1",
doi = "10.3109/03630269009046971",
language = "English (US)",
volume = "14",
pages = "627--635",
journal = "Hemoglobin",
issn = "0363-0269",
publisher = "Informa Healthcare",
number = "6",

}

TY - JOUR

T1 - Hb Hekinan observed in three chinese from macau; identification of the gag→gat mutation in the αl-globin gene

AU - Zhao, W.

AU - Wilson, J. B.

AU - Webber, B. B.

AU - Kutlar, Abdullah

AU - Tamagnini, G. P.

AU - Kuan, B.

AU - Huisnan, T. H.J.

PY - 1990/1/1

Y1 - 1990/1/1

N2 - Hb Hekinan, an α chain variant that is characterized by a Glu←Asp mutation at position α 27, was observed in three Chinese females attending a prenatal clinic in Macau. The relative quantities of the stable hemoglobin were 13-14% (average 13.3%; its identification was greatly aided by the separation and purification of the peptides by reversed phase high performance liquid chromatography. Dot-blot analysis of amplified DNA with 32p-labeled probes located the mutation in codon 27 of the minor α1-globin gene; the change involved a GAG (coding for glutamic acid) to GAT (coding for aspartic acid) mutation.

AB - Hb Hekinan, an α chain variant that is characterized by a Glu←Asp mutation at position α 27, was observed in three Chinese females attending a prenatal clinic in Macau. The relative quantities of the stable hemoglobin were 13-14% (average 13.3%; its identification was greatly aided by the separation and purification of the peptides by reversed phase high performance liquid chromatography. Dot-blot analysis of amplified DNA with 32p-labeled probes located the mutation in codon 27 of the minor α1-globin gene; the change involved a GAG (coding for glutamic acid) to GAT (coding for aspartic acid) mutation.

UR - http://www.scopus.com/inward/record.url?scp=0025552059&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025552059&partnerID=8YFLogxK

U2 - 10.3109/03630269009046971

DO - 10.3109/03630269009046971

M3 - Article

C2 - 1983218

AN - SCOPUS:0025552059

VL - 14

SP - 627

EP - 635

JO - Hemoglobin

JF - Hemoglobin

SN - 0363-0269

IS - 6

ER -