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Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China.
- Source :
-
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2017 Sep; Vol. 19 (9), pp. 1022-1031. Date of Electronic Publication: 2017 Jan 26. - Publication Year :
- 2017
-
Abstract
- Purpose: Thalassemia is one of the most common monogenic diseases in southwestern China, especially among the Dai ethnic group. Here, we explore the feasibility of a next-generation sequencing (NGS) screening method specifically for the Dai people.<br />Methods: Blood samples were obtained from Dai people for premarital screening. Double-blind, parallel hemoglobinopathy screening was conducted using both traditional hematological methods (red cell indexes and hemoglobin electrophoresis, then DNA sequencing) and an NGS approach.<br />Results: Among 951 tested individuals, we found a thalassemia carrier rate of 49.5% (471/951) using the NGS screen, in contrast to 22.0% (209/951) found using traditional methods. Almost 74.8% (217/290) of α-thalassemia carriers and 30.5% (25/82) of composite α- and β-thalassemia carriers were missed by traditional screens. The proportion of such α- and β-thalassemia carriers among the Dai people is 8.6% (82/951). For β-thalassemia carriers, the high ratio (66/99) of CD26 mutations may suggest a correlation between CD26 and the environmental adaption of the Dai people.<br />Conclusions: Methodological comparisons demonstrate the superiority of NGS for both sensitivity and specificity, provide a comprehensive assessment of thalassemia screening strategies, and indicate that NGS is a competitive screening method, especially among populations with a high prevalence of disease.Genet Med advance online publication 26 January 2017.
- Subjects :
- Adolescent
Adult
Alleles
Biomarkers
China epidemiology
China ethnology
Codon
Ethnicity genetics
Gene Frequency
Genetic Testing
Humans
Mass Screening
Middle Aged
Mutation
Phenotype
Premarital Examinations
Prevalence
Young Adult
alpha-Globins genetics
alpha-Thalassemia epidemiology
beta-Globins genetics
beta-Thalassemia epidemiology
Heterozygote
High-Throughput Nucleotide Sequencing
alpha-Thalassemia diagnosis
alpha-Thalassemia genetics
beta-Thalassemia diagnosis
beta-Thalassemia genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1530-0366
- Volume :
- 19
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- Genetics in medicine : official journal of the American College of Medical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 28125089
- Full Text :
- https://doi.org/10.1038/gim.2016.218