Journal of Shandong University (Health Sciences) ›› 2024, Vol. 62 ›› Issue (3): 70-76.doi: 10.6040/j.issn.1671-7554.0.2023.1017

• Clinical Medicine • Previous Articles     Next Articles

Clinical application of single molecule real-time sequencing technology in gene detection for a child with 21-hydroxylase deficiency

ZHAO Wei, WANG Fang, LI Jiashan, LIANG Siying, MIAO Yan, JIANG Nan, LI Shuo   

  1. Genetic Testing Center, Qingdao Women and Childrens Hospital Affiliated to Qingdao University, Qingdao 266034, Shandong, China
  • Published:2024-05-06

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Abstract: Objective To determine the molecular etiology in a child with 21-hydroxylase deficiency using single molecular real-time sequencing(SMRT), and explore its clinical application for gene detection. Methods SMRT technology was applied to perform long-read sequencing on the candidate gene for congenital adrenal hyperplasia in the proband, and the results were compared to those obtained from multiplex ligation-dependent probe amplification(MLPA)and Sanger sequencing in the family. Results The SMRT results revealed three pathogenic variants in the probands CYP21A2 gene, including two tandemly arranged gene copies on one chromosome(one CYP21A2 copy with c.955C>T mutation and the other CYP21A2/CYP21A1P chimeric copy with a c.1069C>T mutation), and a deletion of the CYP21A2 gene on the other chromosome. These variants were consistent with the results obtained by MLPA+Sanger sequencing in the family, and the arrangement of the CYP21A2/CYP21A1P chimeric gene was clarified. Conclusion SMRT technology can identify gene copy number variations, structure variations, and chimeric genes, providing more valuable information for genetic diagnosis and carrier screening of 21-hydroxylase deficiency.

Key words: Single molecular real-time sequencing, Long-read sequencing, CYP21A2 gene, Chimeric gene, Gene duplication

CLC Number: 

  • R586.2
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