High-throughput screening reveals novel mutations in spinal muscular atrophy patients.

ABSTRACT:

Background

Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disease associated with severe muscle atrophy and weakness in the limbs and trunk. The discovery of mutated genes is helpful in diagnosis and treatment for SMA.

Methods

Eighty-three whole blood samples were collected from 28 core families of clinically suspected SMA, and multiplex ligation probe amplification (MLPA) was performed. Afterwards, the complete gene sequence of SMN1 gene was detected. Furthermore, 20 SMA patients were selected from the 28 probands, and 5 non SMA children as controls. The Life Technologies SOLiD™ technology with mate-pair chemistry was utilized to conduct the whole exome high-throughput sequencing.

Results

Twenty-two probands were SMA patients, 3 probands carriers,

SUBMITTER: Zhang R 

PROVIDER: S-EPMC7641840 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature