关键词:

携带者筛查, 携带率, 单基因遗传病, 杂合突变

Abstract:

Objective The study aimed to investigate the carrying situation of pathogenic genes and common variations in the population in Anhui，China，and to explore the application value of expanded carrier screening（ECS）in clinical practice. Methods A total of 517 childbearing ⁃age people with normal phenotypes and no family history of genetic diseases in our hospital from 2021 to 2022 were enrolled for ECS. The first genera⁃ tion sequencing analysis technology based on the capillary electrophoresis platform was used to detect 410 pathogenic variants in 21 genes related to 15 diseases，and the spouses of positive carriers would be recalled for related genetic testing. Results Among 517 childbearing⁃age people receiving ECS and 17 spouses receiving target gene sequenc⁃ ing，94 were identified as carriers of at least one disease，with a total carrier rate of 18.2%（94/517）. The three diseases with the highest carrying rate were hereditary deafness（6.4%，33/517），hepatolenticular degeneration （3.1%，16/517）and congenital adrenal hyperplasia（2.5%，13/517）. A total of 5 high⁃risk couples（3.57%，5/140） were detected. After genetic counseling，2 of them（40%，2/5）chose prenatal diagnosis. The amniotic fluid vali⁃ dation results showed that no pathogenic variation within the designated gene range was detected. Conclusions It is feasible and necessary to implement ECS in clinical practice. Screening of carriers of genetic diseases before preg⁃ nancy or in early pregnancy，combined with prenatal diagnosis and assisted reproduction，can effectively avoid the occurrence of serious genetic diseases.

Key words:

carrier screening, carrying rate, monogenic genetic diseases, heterozygous mutation