title: Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China.
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.
authors.affiliation: Yunnan Provincial Key Laboratory For Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, China.|Medical School of Kunming University in Science and Technology, Kunming, China.
authors.forename: Jing
authors.initials: J
authors.lastname: He
authors.affiliation: BGI-Yunnan, BGI-Shenzhen, Kunming, China.
authors.forename: Wenhui
authors.initials: W
authors.lastname: Song
authors.affiliation: BGI-Yunnan, BGI-Shenzhen, Kunming, China.|College of Life Sciences, Yunnan University, Kunming, China.
authors.forename: Jinlong
authors.initials: J
authors.lastname: Yang
authors.affiliation: BGI-Shenzhen, Shenzhen, China.
authors.forename: Sen
authors.initials: S
authors.lastname: Lu
authors.affiliation: BGI-Shenzhen, Shenzhen, China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Yuan
authors.affiliation: BGI-Shenzhen, Shenzhen, China.
authors.forename: Junfu
authors.identifier: 0000-0002-4195-7031
authors.initials: J
authors.lastname: Guo
authors.affiliation: Medical School of Kunming University in Science and Technology, Kunming, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Zhang
authors.affiliation: BGI-Shenzhen, Shenzhen, China.
authors.forename: Kai
authors.initials: K
authors.lastname: Ye
authors.affiliation: BGI-Shenzhen, Shenzhen, China.
authors.forename: Fan
authors.identifier: 0000-0002-0398-1460
authors.initials: F
authors.lastname: Yang
authors.affiliation: BGI-Yunnan, BGI-Shenzhen, Kunming, China.
authors.forename: Fangfang
authors.identifier: 0000-0003-3944-2909
authors.initials: F
authors.lastname: Long
authors.affiliation: BGI-Shenzhen, Shenzhen, China.
authors.forename: Zhiyu
authors.initials: Z
authors.lastname: Peng
authors.affiliation: College of Life Sciences, Yunnan University, Kunming, China.
authors.forename: Haijing
authors.identifier: 0000-0001-7950-601X
authors.initials: H
authors.lastname: Yu
authors.affiliation: BGI-Yunnan, BGI-Shenzhen, Kunming, China.|College of Clinical Medicine, College of Basic Medical Sciences, Dali University, Dali, China.
authors.forename: Le
authors.initials: L
authors.lastname: Cheng
authors.affiliation: Yunnan Provincial Key Laboratory For Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, China.|Medical School of Kunming University in Science and Technology, Kunming, China.
authors.forename: Baosheng
authors.initials: B
authors.lastname: Zhu
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D015415:Biomarkers; D002681:China / Q000453:epidemiology / Q000208:ethnology; D003062:Codon; D005006:Ethnicity / Q000235:genetics; D005787:Gene Frequency; D005820:Genetic Testing; D006579:Heterozygote; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008403:Mass Screening; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D011291:Premarital Examinations; D015995:Prevalence; D055815:Young Adult; D055542:alpha-Globins / Q000235:genetics; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*
chemical_list: D015415:Biomarkers; D003062:Codon; D055542:alpha-Globins; D055544:beta-Globins