SMN1型
多重连接依赖探针扩增
脊髓性肌萎缩
外显子
遗传学
生物
错义突变
分子生物学
突变
基因
基因型
作者
Jian Zeng,Yanhong Lin,Ai-zhen Yan,Meiying Cai,Longfeng Ke,Fenghua Lan
出处
期刊:PubMed
日期:2009-04-01
卷期号:26 (2): 139-43
被引量:4
标识
DOI:10.3760/cma.j.issn.1003-9406.2009.02.004
摘要
To perform mutation analysis and describe the genotype of the SMN gene in a patient with spinal muscular atrophy (SMA) and his family.Deletion analysis of the SMN1 exon 7 by conventional PCR-restriction fragment length polymorphism (RFLP) and allele-specific PCR, and gene dosage of SMN1 and SMN2 by multiplex ligation-dependent probe amplification (MLPA) were performed for the patient and his parents; reverse transcriptase (RT)-PCR and sequencing were performed for the patient. To determine whether the SMN variant was exclusive to transcripts derived from SMN1, the RT-PCR product of the patient was subcloned and multiple clones were sequenced directly; PCR of SMN exon 5 from the genomic DNA of the parents and direct sequencing were performed to confirm the mutation.In SMN1 exon 7 deletion analysis, no homozygous deletion of the SMN1 was observed in the family; the gene dosage analysis by MLPA showed that the patient had 1 copy of SMN1 and 1 copy of SMN2 his father had 2 copies of SMN1 and 2 copies of SMN2, and his mother had 1 copy of SMN1 and no SMN2. A previously unreported missense mutation of S230L was identified from the patient and this mutation was also found in his father.A novel missense mutation of S230L was identified in the SMA family and the genotype of the family members were investigated.
科研通智能强力驱动
Strongly Powered by AbleSci AI