Subtle mutation analysis of survival motor neuron gene in families with spinal muscular atrophy

VernacularTitle:脊肌萎缩症家系运动神经元生存基因微小突变的鉴定
Author: Jian ZENG ; Yanhong LIN ; Aizhen YAN ; Fenghua LAN
Publication Type:Journal Article
Keywords: Muscular atrophy,spinal; Pedigree; Motor neurons; Survival of motor neuron 1 protein; Mutation; Nucleic acid amplification techniques
From: Chinese Journal of Laboratory Medicine 2012;35(7):607-611
CountryChina
Language:Chinese
Abstract: ObjectiveTo establish a analytical system for the survival motor neuron (SMN) subtle mutation,and evaluate its application in two families with spinal muscular atrophy (SMA).MethodsSMN genes in seven family members from two SMA families were analyzed at both transcript level and genomic level,by the use of the conventional PCR-RFLP,allele-specific PCR,multiplex ligation-dependent probe amplification (MLPA) and T subcloning and sequencing of SMNI gene.ResultsIn family A,the patient had a single SMN1 copy who was carrying nonsense mutation L228X,which was also found in his father.In family B,as the patient's sample was unavailable,the father was indeed a carrier with one normal SMN1 allele and the other SMN1 allele carrying a frameshift mutation 22_23insA.The remaining family members were SMA carriers with one SMN1 copy.ConclusionThis analytical system for SMN subtle mutation offers viable molecular basis for genetic counseling and prenatal diagnosis in SMA families.