1. Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China
- Author
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Kai Ye, Jinlong Yang, Fan Yang, Haijing Yu, Baosheng Zhu, Jie Zhang, Jing He, Zhiyu Peng, Lu Sen, Le Cheng, Yuan Yuan, Fangfang Long, Wenhui Song, and Guo Junfu
- Subjects
0301 basic medicine ,Adult ,China ,Heterozygote ,Hemoglobin electrophoresis ,Adolescent ,Thalassemia ,Population ,Disease ,Premarital Examinations ,beta-Globins ,DNA sequencing ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Gene Frequency ,alpha-Globins ,alpha-Thalassemia ,hemic and lymphatic diseases ,medicine ,Ethnicity ,Prevalence ,Humans ,Mass Screening ,Genetic Testing ,education ,Codon ,Genetics (clinical) ,Alleles ,education.field_of_study ,Traditional medicine ,business.industry ,beta-Thalassemia ,High-Throughput Nucleotide Sequencing ,Middle Aged ,medicine.disease ,030104 developmental biology ,Hemoglobinopathy ,Phenotype ,Mutation ,High ratio ,Carrier screening ,business ,Biomarkers ,030215 immunology ,Demography - Abstract
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. 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. 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. 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
- Published
- 2015