PCR-RFLP in gene diagnosis of spinal muscular atrophy / 中华神经科杂志

ABSTRACT

Objective To study the value of the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in gene diagnosis on spinal muscular atrophy (SMA).Methods PCR-RFLP method was used to detect the homozygous deletion of the exon 7 or exon 8 of SMN gene in 20 SMA patients of Type Ⅰ,Ⅱ,Ⅲ and 15 normal individuals.Results Homozygous deletion of exon 7 and exon 8 of the SMN gene were all identified 7/7 in SMA TypeⅠpatients, and 5/5 and 4/5 respectively in SMA Type Ⅱ patients, but only 1/8 of SMA Type Ⅲ patients, and no homozygous deletion was found in the normal controls.Conclusions PCR-RFLP might be recommended as an effective diagnosis for spinal muscular atrophy Type Ⅰand Ⅱ patients, whereas the method might not be as useful in Type Ⅲ as in Type Ⅰand Ⅱ for the gene diagnosis.