Hb G-coushatta [β22(B4)Glu→Ala] in Thailand

Itchayanan, D; Svasti, Jisnuson; Srisomsap, Chantragan; Winichagoon, Pranee; Fucharoen, Suthat

doi:10.3109/03630269908996149

Cited by 10 publications

(5 citation statements)

References 9 publications

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“…An abnormal Hb was found at 1.46 minutes, compared to Hb A at 2.78 minutes, in cation exchange HPLC (VARIANT TM ; Bio-Rad Laboratories, Hercules, CA, USA). The isolated abnormal b Hope and normal b A -globin chain were compared by tryptic peptide mapping on reversed phase HPLC (9). The isolated abnormal b Hope and normal b A -globin chain were compared by tryptic peptide mapping on reversed phase HPLC (9).…”

Section: Reprintsmentioning

confidence: 99%

ASSOCIATION OF Hb HOPE [β136(H14)Gly → Asp] AND Hb H DISEASE

et al. 2001

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Section: Reprintsmentioning

confidence: 99%

ASSOCIATION OF Hb HOPE [β136(H14)Gly → Asp] AND Hb H DISEASE

et al. 2001

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“…Hb G‐Coushatta [β22 (B4) Glu→Ala] (HGVS Name: HBB : c.68A>C) was first identified in American Coushatta Indians (Schneider, Haggard, McNutt, & Johnson, ). This abnormal hemoglobin variant was reported from various populations parts of the world such as Thai, Korea, Algeria, Thailand, China, Japan and Turkey (Atalay et al., ; Chinchang & Viprakasit, ; Dinçol, Dinçol, & Erdem, ; Itchayanan, Svasti, Srisomsap, Winichagoon, & Fucharoen, ; Sözmen, Uysal, & Akar, ; Yenice et al., ). Beta globin gene cluster haplotypes are frequently encountered in population surveys.…”

Section: Introductionmentioning

confidence: 57%

“…Haplotype studies related to Hb G‐Coushatta in American, Chinese, Thai and Turkish individuals suggest a multiple origin for this variant (Itchayanan et al., ; Li et al., ; Ozturk et al., ). Previously published β‐globin gene cluster haplotypes data in association with the Hb G‐Coushatta cases (American Indian [− + – – + – ?…”

Section: Discussionmentioning

confidence: 99%

Estimating the age of Hb G‐Coushatta [β22(B4)Glu→Ala] mutation by haplotypes of β‐globin gene cluster in Denizli, Turkey

Öztürk

Arıkan

Atalay

et al. 2018

Molec Gen & Gen Med

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BackgroundHb G‐Coushatta variant was reported from various populations’ parts of the world such as Thai, Korea, Algeria, Thailand, China, Japan and Turkey. In our study, we aimed to discuss the possible historical relationships of the Hb G‐Coushatta mutation with the possible migration routes of the world. For this purpose, associated haplotypes were determined using polymorphic loci in the beta globin gene cluster of hemoglobin G‐Coushatta and normal populations in Denizli, Turkey.MethodsWe performed statistical analysis such as haplotype analysis, Hardy–Weinberg equilibrium, measurement of genetic diversity and population differentiation parameters, analysis of molecular variance using F‐statistics, historical‐demographic analyses, mismatch distribution analysis of both populations and applied the test statistics in Arlequin ver. 3.5 software program.ResultsThe diversity of haplotypes has been shown to indicate different genetic origins for two populations. However, AMOVA results, molecular diversity parameters and population demographic expansion times showed that the Hb G‐Coushatta mutation develops on the normal population gene pool. Our estimated τ values showed the average time since the demographic expansion for normal and Hb G‐Coushatta populations ranged from approximately 42,000 to 38,000 ybp, respectively.ConclusionOur data suggest that Hb G‐Coushatta population originate in normal population in Denizli, Turkey. These results support the hypothesis that the multiple origin of Hb G‐Coushatta and indicate that mutation may have been triggered the formation of new variants on beta globin haplotypes.

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“…Haplotype studies in American, Chinese and Thai individuals suggest a multiple origin for this variant (5,6). We here describe another identification of this variant in the Thai population in combination with Hb E [β26(B8)Glu→Lys, GAG→AAG], the most common hemoglobinopathy found in Southeast Asia.…”

mentioning

confidence: 84%

Further Identification of Hb G-Coushatta [β22(B4)Glu→Ala (GAA→GCA)] in Thailand by the Polymerase Chain Reaction-Single-Strand Conformation Polymorphism Technique and by Amplification Refractory Mutation System-Polymerase Chain Reaction

Chinchang

Viprakasit

2007

Hemoglobin

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Thalassemias and hemoglobinopathies are very common among Southeast Asian populations, particularly in Thailand, where it is estimated that nearly 30% of the population carries at least one such disorder. Moreover, the heterogeneity of different mutant alpha- and beta-globin alleles contributes to the complexity in diagnosis and proper management, as more than 60 thalassemia syndromes and hemoglobinopathies have been described. Herein we report a further case of Hb G-Coushatta [beta22(B4)Glu-->Ala (GAA-->GCA)] (also known as G-Saskatoon, G-Hsin Chu and G-Taegu) in a Thai family in which the mother was found to have an unusual hemoglobin (Hb) anomaly in combination with Hb E [beta26(B8)Glu-->Lys, GAG-->AAG]. We applied our recently described polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) technique to scan the beta-globin genes and found an aberrant pattern in exon 1. The molecular analysis by direct genomic sequencing successfully identified the nucleotide mutation (codon 22, GAA-->GCA), and a novel amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) for this variant is described.

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Hb G-coushatta [β22(B4)Glu→Ala] in Thailand

Cited by 10 publications

References 9 publications

ASSOCIATION OF Hb HOPE [β136(H14)Gly → Asp] AND Hb H DISEASE

ASSOCIATION OF Hb HOPE [β136(H14)Gly → Asp] AND Hb H DISEASE

Estimating the age of Hb G‐Coushatta [β22(B4)Glu→Ala] mutation by haplotypes of β‐globin gene cluster in Denizli, Turkey

Further Identification of Hb G-Coushatta [β22(B4)Glu→Ala (GAA→GCA)] in Thailand by the Polymerase Chain Reaction-Single-Strand Conformation Polymorphism Technique and by Amplification Refractory Mutation System-Polymerase Chain Reaction

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