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Genet Med. 2017 Sep;19(9):1022-1031. doi: 10.1038/gim.2016.218. Epub 2017 Jan 26.

Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China.

Author information

1
Yunnan Provincial Key Laboratory For Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, China.
2
Medical School of Kunming University in Science and Technology, Kunming, China.
3
BGI-Yunnan, BGI-Shenzhen, Kunming, China.
4
College of Life Sciences, Yunnan University, Kunming, China.
5
BGI-Shenzhen, Shenzhen, China.
6
College of Clinical Medicine, College of Basic Medical Sciences, Dali University, Dali, China.

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.

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.

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.

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.

PMID:
28125089
DOI:
10.1038/gim.2016.218
[Indexed for MEDLINE]

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