Development of a genomic DNA reference material panel for thalassemia genetic testing
Zhenzhen Yin
BGI-Shenzhen, Shenzhen, China
China National GeneBank, BGI-Shenzhen, Shenzhen, China
Search for more papers by this authorShoufang Qu
Division of In Vitro Diagnostics for Non-Infectious Diseases, National Institutes for Food and Drug Control, Beijing, China
Search for more papers by this authorChuanfeng Huang
Division of In Vitro Diagnostics for Non-Infectious Diseases, National Institutes for Food and Drug Control, Beijing, China
Search for more papers by this authorFang Chen
BGI-Shenzhen, Shenzhen, China
China National GeneBank, BGI-Shenzhen, Shenzhen, China
MGI-Shenzhen, BGI-Shenzhen, Shenzhen, China
Search for more papers by this authorJianbiao Li
BGI-Shenzhen, Shenzhen, China
China National GeneBank, BGI-Shenzhen, Shenzhen, China
Search for more papers by this authorShiping Chen
BGI-Shenzhen, Shenzhen, China
Clinical Laboratory of BGI Health, BGI-Shenzhen, Shenzhen, China
Search for more papers by this authorJingyu Ye
BGI-Shenzhen, Shenzhen, China
China National GeneBank, BGI-Shenzhen, Shenzhen, China
Search for more papers by this authorYing Yang
BGI-Shenzhen, Shenzhen, China
China National GeneBank, BGI-Shenzhen, Shenzhen, China
Search for more papers by this authorYu Zheng
BGI-Shenzhen, Shenzhen, China
Clinical Laboratory of BGI Health, BGI-Shenzhen, Shenzhen, China
Search for more papers by this authorXi Zhang
China National GeneBank, BGI-Shenzhen, Shenzhen, China
Search for more papers by this authorXuexi Yang
School of Laboratory Medicine and Biotechnology, Southern Medical University, Guangzhou, China
Search for more papers by this authorLongxu Xie
Hybribio Limited, Sino-Singapore Guangzhou Knowledge City, Guangzhou, China
Search for more papers by this authorJitao Wei
Research and Development Department, Yaneng BIOscience (Shenzhen) Co. Ltd, Shenzhen, China
Search for more papers by this authorFengxiang Wei
The Genetics Laboratory, Shenzhen Longgang District Maternity and Child Healthcare Hospital, Shenzhen, China
Search for more papers by this authorCorresponding Author
Jian Guo
BGI-Shenzhen, Shenzhen, China
China National GeneBank, BGI-Shenzhen, Shenzhen, China
Correspondence
Jie Huang, Division of in Vitro Diagnostics for Non-Infectious Diseases, National Institutes for Food and Drug Control (NIFDC), No. 2, Tiantan Xili, Dongcheng District, Beijing 10050, China.
Email: [email protected]
or
Jian Guo, BGI-Shenzhen, Beishan Industrial Zone, Yantian District, Shenzhen 518083, Guangdong, China.
Email: [email protected]
Search for more papers by this authorCorresponding Author
Jie Huang
Division of In Vitro Diagnostics for Non-Infectious Diseases, National Institutes for Food and Drug Control, Beijing, China
Correspondence
Jie Huang, Division of in Vitro Diagnostics for Non-Infectious Diseases, National Institutes for Food and Drug Control (NIFDC), No. 2, Tiantan Xili, Dongcheng District, Beijing 10050, China.
Email: [email protected]
or
Jian Guo, BGI-Shenzhen, Beishan Industrial Zone, Yantian District, Shenzhen 518083, Guangdong, China.
Email: [email protected]
Search for more papers by this authorZhenzhen Yin
BGI-Shenzhen, Shenzhen, China
China National GeneBank, BGI-Shenzhen, Shenzhen, China
Search for more papers by this authorShoufang Qu
Division of In Vitro Diagnostics for Non-Infectious Diseases, National Institutes for Food and Drug Control, Beijing, China
Search for more papers by this authorChuanfeng Huang
Division of In Vitro Diagnostics for Non-Infectious Diseases, National Institutes for Food and Drug Control, Beijing, China
Search for more papers by this authorFang Chen
BGI-Shenzhen, Shenzhen, China
China National GeneBank, BGI-Shenzhen, Shenzhen, China
MGI-Shenzhen, BGI-Shenzhen, Shenzhen, China
Search for more papers by this authorJianbiao Li
BGI-Shenzhen, Shenzhen, China
China National GeneBank, BGI-Shenzhen, Shenzhen, China
Search for more papers by this authorShiping Chen
BGI-Shenzhen, Shenzhen, China
Clinical Laboratory of BGI Health, BGI-Shenzhen, Shenzhen, China
Search for more papers by this authorJingyu Ye
BGI-Shenzhen, Shenzhen, China
China National GeneBank, BGI-Shenzhen, Shenzhen, China
Search for more papers by this authorYing Yang
BGI-Shenzhen, Shenzhen, China
China National GeneBank, BGI-Shenzhen, Shenzhen, China
Search for more papers by this authorYu Zheng
BGI-Shenzhen, Shenzhen, China
Clinical Laboratory of BGI Health, BGI-Shenzhen, Shenzhen, China
Search for more papers by this authorXi Zhang
China National GeneBank, BGI-Shenzhen, Shenzhen, China
Search for more papers by this authorXuexi Yang
School of Laboratory Medicine and Biotechnology, Southern Medical University, Guangzhou, China
Search for more papers by this authorLongxu Xie
Hybribio Limited, Sino-Singapore Guangzhou Knowledge City, Guangzhou, China
Search for more papers by this authorJitao Wei
Research and Development Department, Yaneng BIOscience (Shenzhen) Co. Ltd, Shenzhen, China
Search for more papers by this authorFengxiang Wei
The Genetics Laboratory, Shenzhen Longgang District Maternity and Child Healthcare Hospital, Shenzhen, China
Search for more papers by this authorCorresponding Author
Jian Guo
BGI-Shenzhen, Shenzhen, China
China National GeneBank, BGI-Shenzhen, Shenzhen, China
Correspondence
Jie Huang, Division of in Vitro Diagnostics for Non-Infectious Diseases, National Institutes for Food and Drug Control (NIFDC), No. 2, Tiantan Xili, Dongcheng District, Beijing 10050, China.
Email: [email protected]
or
Jian Guo, BGI-Shenzhen, Beishan Industrial Zone, Yantian District, Shenzhen 518083, Guangdong, China.
Email: [email protected]
Search for more papers by this authorCorresponding Author
Jie Huang
Division of In Vitro Diagnostics for Non-Infectious Diseases, National Institutes for Food and Drug Control, Beijing, China
Correspondence
Jie Huang, Division of in Vitro Diagnostics for Non-Infectious Diseases, National Institutes for Food and Drug Control (NIFDC), No. 2, Tiantan Xili, Dongcheng District, Beijing 10050, China.
Email: [email protected]
or
Jian Guo, BGI-Shenzhen, Beishan Industrial Zone, Yantian District, Shenzhen 518083, Guangdong, China.
Email: [email protected]
Search for more papers by this authorAbstract
Introduction
Thalassemia is one of the most common autosomal recessive inherited diseases worldwide, and it is also highly prevalent and variable in southern China. Various types of genetic testing technologies have been developed for diagnosis and screening of thalassemia. Characterized genomic DNA reference materials (RMs) are necessary for assay development, validation, proficiency testing, and quality assurance. However, there are no publicly available RMs for thalassemia genetic testing as yet.
Methods
To address the need for the publicly available DNA RMs for thalassemia genetic testing, the National Institutes for Food and Drug Control and the China National GeneBank established 32 new cell lines with three wild-type genotypes and 29 distinct genotypes of thalassemia which account for approximately 90% thalassemia carriers in China. The genomic DNA of 32 cell lines was characterized by four clinical genetic testing laboratories using different genetic testing methods and technology platforms.
Results
The genotyping results are concordant among four laboratories. In addition, the results of stability test demonstrated that the genotypes of these DNA samples are not influenced by preanalytical conditions such as long-term exposure to high-temperature (37°C) environment and repeated freeze-thawing.
Conclusion
We developed the first national panel of 32 genomic DNA RMs which are renewable and publicly available for the quality assurance of various genetic testing methods and will facilitate research and development in thalassemia genetic testing.
CONFLICT OF INTEREST
The authors declare no conflict of interest.
Supporting Information
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Table S1 Table S2 |
Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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