Publication:
Strong Linkage of the Single Nucleotide Polymorphism rs77308790 with an α0-Thalassemia (– –SEA deletion) Allele and Application for Double-Check Diagnosis of Hb Bart’s Hydrops Fetalis Syndrome in Thailand

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Issued Date

2019

Resource Type

Article

File Type

application/pdf

ISSN

3630269

DOI

10.1080/03630269.2019.1666720

Other identifier(s)

2-s2.0-85076449917

Rights Holder(s)

Scopus

Bibliographic Citation

Hemoglobin. Vol 43, (2019), p.236-240

Suggested Citation

Jomoui W., Tepakhan W., Karnpean R. Strong Linkage of the Single Nucleotide Polymorphism rs77308790 with an α0-Thalassemia (– –SEA deletion) Allele and Application for Double-Check Diagnosis of Hb Bart’s Hydrops Fetalis Syndrome in Thailand. Hemoglobin. Vol 43, (2019), p.236-240. doi:10.1080/03630269.2019.1666720 Retrieved from: https://hdl.handle.net/20.500.14740/5161

Title

Strong Linkage of the Single Nucleotide Polymorphism rs77308790 with an α0-Thalassemia (– –SEA deletion) Allele and Application for Double-Check Diagnosis of Hb Bart’s Hydrops Fetalis Syndrome in Thailand

Author(s)

Jomoui W.
 Tepakhan W.
 Karnpean R.

Abstract

The α0-thalassemia (α0-thal) [– –SEA (Southeast Asian) deletion] is highly prevalent in Southeast Asia and South China. The linkage between the single nucleotide polymorphism (SNP) rs77308790 and the––SEA deletion was reported in the Chinese population. This study reported the genotype of SNP rs77308790 using the high resolution melting (HRM) curve analysis in the Thai population and the application for double-checking diagnosis of Hb Bart’s (γ4) hydrops fetalis syndrome. A total of 202 samples, including α0-thal carriers (– –SEA/αα) (n = 99) and wild-type (n = 103), was recruited. Minor allele frequency (MAF) of SNP rs77308790 (T allele) represented a significant difference (p<0.001) between carrier (– –SEA deletion) (MAF 0.455) and wild-type (MAF 0.039). The T allele of SNP rs77308790 showed a strong linkage with the––SEA deletion allele [correlation coefficient between pairs of loci (D’ = 1)] based on constructed random samples (CRSs) in Thais. Moreover, worldwide populations, based on the 1000Genomes database, also found the T allele to be less than 1.0%. For providing a double-checked diagnosis, two SNP (rs3760053, rs77308790) genotypes showed 100.0% concordance with a conventional gap-polymerase chain reaction (gap-PCR) method in nine families at-risk for Hb Bart’s hydrops fetalis. The double-checked diagnosis based on the two SNPs (rs3760053, rs77308790) is suitable for implementation in routine diagnosis of Hb Bart’s hydrops fetalis syndrome. Furthermore, our HRM analysis system can be amplified with a small amount of fetal DNA and could avoid allele dropouts. © 2019, © 2019 Informa UK Limited, trading as Taylor & Francis Group.

Subject(s)

DNA
 Hemoglobin
 Hemoglobin Bart's
 Hemoglobin variant
 Allele
 Alpha thalassemia
 Article
 Bart hydrops fetalis syndrome
 Controlled study
 Female
 Fetus
 Fetus hydrops
 Gene deletion
 Gene frequency
 Genotype
 Heterozygote
 High resolution melting analysis
 Homozygote
 Human
 Major clinical study
 Male
 Polymerase chain reaction
 Population
 Prenatal diagnosis
 Single nucleotide polymorphism
 Southeast Asian
 Thailand
 Wild type
 Allele
 Alpha thalassemia
 Family
 Fetus hydrops
 Genetic linkage
 Genetics
 Pregnancy
 Procedures
 Alleles
 Alpha-Thalassemia
 Family
 Female
 Genetic Linkage
 Hemoglobins, Abnormal
 Humans
 Hydrops Fetalis
 Male
 Polymorphism, Single Nucleotide
 Pregnancy
 Prenatal Diagnosis
 Sequence Deletion
 Thailand

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URI

https://hdl.handle.net/20.500.14740/5161

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Scopus: Year 1983-2021

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