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Abstract
Traditional carrier screening has been utilized for the detection of carriers of genetic disorders. Since a comprehensive assessment of the carrier frequencies of recessive conditions in the Southern Chinese population is not yet available, we performed a secondary analysis on the spectrum and carrier status for 315 genes causing autosomal recessive disorders in 1543 Southern Chinese individuals with next-generation sequencing data, 1116 with exome sequencing and 427 with genome sequencing data. Our data revealed that 1 in 2 people (47.8% of the population) was a carrier for one or more recessive conditions, and 1 in 12 individuals (8.30% of the population) was a carrier for treatable inherited conditions. In alignment with current American College of Obstetricians and Gynecologists (ACOG) pan-ethnic carrier recommendations, 1 in 26 individuals were identified as carriers of cystic fibrosis, thalassemia, and spinal muscular atrophy in the Southern Chinese population. When the >1% expanded carrier screening rate recommendation by ACOG was used, 11 diseases were found to meet the criteria in the Southern Chinese population. Approximately 1 in 3 individuals (35.5% of the population) were carriers of these 11 conditions. If the 1 in 200 carrier frequency threshold is used, and additional seven genes would meet the criteria, and 2 in 5 individuals (38.7% of the population) would be detected as a carrier. This study provides a comprehensive catalogue of the carrier spectrum and frequency in the Southern Chinese population and can serve as a reference for careful evaluation of the conditions to be included in expanded carrier screening for Southern Chinese people.
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1 The University of Hong Kong, Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, Hong Kong SAR, China (GRID:grid.194645.b) (ISNI:0000000121742757)
2 The University of Hong Kong, Department of Surgery, LKS Faculty of Medicine, Hong Kong SAR, China (GRID:grid.194645.b) (ISNI:0000000121742757)
3 Tsan Yuk Hospital, Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Hong Kong SAR, China (GRID:grid.460837.e) (ISNI:0000 0004 1762 6827)
4 Duchess of Kent Children’s Hospital, Department of Paediatrics and Adolescent Medicine, Hong Kong SAR, China (GRID:grid.414186.e) (ISNI:0000 0004 1798 1036)
5 The University of Hong Kong, Department of Surgery, LKS Faculty of Medicine, Hong Kong SAR, China (GRID:grid.194645.b) (ISNI:0000000121742757); The University of Hong Kong–Karolinska Institute Collaboration in Regenerative Medicine, Li Dak-Sum Research Centre, Hong Kong SAR, China (GRID:grid.194645.b) (ISNI:0000000121742757)