Carrier Screening of 400 Variations Related 11 Recessive Diseases in the Daur Ethnicity in China

Abstract Background: Single gene disorders are common diseases that cause birth defect. Carrier screening is an effective method to reduce the affected children with single gene disorders. However, incidence rates and carrier positive rates vary among ethnic groups. Results: In the present study, four hundred alleles associated with 11 recessive disease were detected in the Daur ethnicity of China. Among the 246 individuals, 25 individuals were identified as heterozygous carriers of at least one for 11 recessive disorder, carrier rate was 10.16%. A total of 19 females were carrier positive among 143 individuals with a 13.29% positive rate, however, only 6 out 103 males were carrier positive with a 5.83% positive rate. The most common in the Daur was HLD (2.85%) and congenital hearing loss (2.85%), followed by CAH (2.44%), PKU (1.22%), SMA (0.41%), MMA (0.41%), and X-linked ichthyosis (0.41%). Conclusions: These results estimated the distribution of carrier frequencies in the Daur, and showed that several of these diseases may be considered for inclusion in carrier screening in the Daur population. Further large-scale study should be performed to identified the results.