Preconception or prenatal acceptance of SMN1 gene carrier screening and carrier rate of spinal muscular atrophy: a retrospective study in 18,818 reproductive age women in Wuhan area of China.

ABSTRACT:

Objective

Spinal muscular atrophy (SMA) is an autosomal recessive disorder mainly affecting the neuromuscular system, which seriously threatens the life and health of patients. But few studies have reported the acceptance rate of SMA gene screening and SMA carrier rate in China. The present study aimed to clarify the two issues in China through a retrospective analysis of 18,818 reproductive age women in Wuhan area of China.

Methods

The copy number (CN) of exons 7 and 8 in survival motor neuron 1 (SMN1) gene was detected by real-time quantitative PCR, and the results were verified by multiplex ligation-dependent probe amplification.

Results

Carrier screening was offered to 44,953 women of childbearing age in our medical center from March, 2018, to February, 2022, of w

SUBMITTER: Sun Y 

PROVIDER: S-EPMC10789693 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature