Study On Pathogenic Variation Of Single Gene Disease In Hohhot

Objective The carrying situation of pathogenic variation of single gene diseases in Hohhot region was analyzed to obtain a variety of common single gene diseases and their hot mutations in the region,improve the epidemiological investigation of single gene genetic disease carriers in the region,and provide basic data for the prevention and control of birth defects related to single gene diseases.Methods Using target sequence capture and high-throughput sequencing technology,286 patients of childbearing age in Maternal and Child Health Hospital of Inner Mongolia Autonomous Region from March 2020 to September2022 were screened for recessive single gene disease carriers.The gene screening Panel contained more than 9000 mutation loci of 147 genes related to 155 single gene diseases.And3233 newborns delivered in Maternal and Child Health Hospital of Inner Mongolia Autonomous Region from April 2021 to the end of December 2021 were screened for genetic diseases.The genetic screening Panel contained all coding regions of 159 genes related to 156 single gene diseases.Finally,the screening results of recessive single gene disease carriers and newborn gene screening were analyzed.Main results(1)Screening of recessive single gene genetic disease carriers in child-bearing population a total of 286 subjects were enrolled,and 135 recessive single gene disease carriers were detected,with a carrying rate of47.20%.The 135 carriers carried a total of 170 pathogenic genes,with an average of 0.59(170/286)pathogenic genes per person.Among the population of childbearing age,the common recessive single gene genetic diseases in this region were: phenylketonuria 5.59%(16/286),autosomal recessive deafness 4.90%(14/286),ocular skin albinism 4.20%(12/286),spinal muscular atrophy 3.15%(9/286),3.15%(9/286)of hepatic lentiform degeneration,2.80%(8/286)of familial hemophagocytic lymphohistiocytosis.(2)A total of 3233 neonates were enrolled for genetic disease screening,45 cases of double-allelic mutation(positive for single gene disease)and 1504 cases of carriers were detected,the detection rate was 47.91%.A total of 2122 pathogenic genes were detected in 1549 positive children and carriers,belonging to 93 kinds of diseases,with an average of 0.66(2122/3233)pathogenic genes per person.In the neonatal population,the common single gene diseases were autosomal recessive deafness,thyroid secretion disorder,phenylketonuria,Pendred syndrome,familial hemophagocytic lymphohistiocytosis,and methylmalonic acidemia.The detection rates were9.46%(306/3233),5.10%(165/3233),3.74%(121/3233),3.68%(119/3233),3.37%(109/3233)and 2.94%(95/3233),respectively.(3)By comparing the data of recessive single-gene genetic disease carrier screening in prenatal population and neonatal genetic disease screening,although the disease-causing genes detected in the two groups of population are not exactly the same,the detection rate and the number of disease-causing genes carried per capita are similar.Conclusion This study obtained the carrying situation of pathogenic genes of many common single gene genetic diseases in Hohhot,and the detection rate of single gene genetic diseases was high in the population.In the future,more efforts should be made to publicize the related knowledge of single gene genetic diseases,so as to let more people know the pathogenicity of single gene genetic diseases and the prevention and treatment means,so as to improve the acceptance of prenatal carrier screening and neonatal genetic disease screening.Reduce the birth rate and morbidity of children with severe monogenic diseases.