Variations analysis of 133 recessive diseases carried by 200 Chinese samples

Objective To investigate the variants in the high frequency associated with corresponding diseases in Chinese population, and to identify disease coverage for carriers screening in China. Methods A total of 200 normal and unrelated Chinese samples who accepted whole exome sequencing in Novogene Co. Ltd from July 2017 to July 2018 were subjected to screen for the genes associated with 133 single-gene recessive diseases. Then the variants were identified and interpreted by American College of Medical Genetics and Genomics (ACMG) guidelines, which were analyzed as pathogenic or benign. A total variants detected in all of the sample were counted. Results It was found that the variants related to thyroid dyshormonogenesis, non-syndromic deafness and retinitis pigmentosa were not only highly carried in the Chinese population, but also had many mutation types. In addition, a total of 78 variants were identified. And 4 of them (MYO15A c.5919G>A, TYR c.929_930insC, DUOX2 c.3329G>A, ABCB11 c.2842C>T) were analyzed as pathogenic mutations, which were heterozygous and carried by four individuals. Moreover, 9 novel mutations were found that have never been reported, and these mutations were considered as uncertain significance. Conclusion High-frequency genetic mutations with the corresponding diseases were identified in 200 Chinese populations. Preliminary conclusions indicate that thyroid dyshormonogenesis, non-syndromic deafness and retinitis pigmentosa can be the focus for carriers screening in China. Key words: Monogenic genetic disease; Sequencing; Recessive inheritance; Carrier screening; Gene variation