SMN1型
多重连接依赖探针扩增
脊髓性肌萎缩
形状记忆合金*
外显子
分子生物学
基因
突变
杂合子丢失
生物
遗传学
桑格测序
移码突变
错义突变
点突变
萎缩
复合杂合度
等位基因
组合数学
数学
作者
Jing Li,Yunping Zhu,Yixin Zhan,Yaqin Li,Menglong Chen,Liang Wang,Rong He,Cheng Zhang
出处
期刊:PubMed
日期:2017-10-10
卷期号:34 (5): 658-661
被引量:1
标识
DOI:10.3760/cma.j.issn.1003-9406.2017.05.008
摘要
To explore the significance of SMN1 gene mutations among patients with spinal muscular atrophy (SMA) and the value of multiplex ligation dependent probe amplification (MLPA) for its diagnosis.Potential mutations of the SMN1 gene were detected among 78 SMA patients with a MLPA assay.Homozygous deletion of SMN1 exons 7 and 8 was detected in 70 (89.7%) of all patients. Homozygous deletion of exons 7 and heterozygous deletion of exon 8 was detected in 3 patients (3.8%). Homozygous deletion of SMN1 exons 7 alone was detected in 3 patients (3.8%). Heterozygous deletion of SMN1 exons 7 and 8 was detected in 2 patients (2.6%). For 77 of the patients, both parents were found to carry heterozygous deletion of the SMN1 gene, which was consistent with the recessive inheritance of SMA. One patient with SMA type I was found to be rather rare. The patient was found to carry homozygous deletion of SMN1 exons 7 and 8, for which her mother was heterozygous, while no mutation was found in her father.Homozygous deletion of the SMN1 gene have been detected in more than 95% of SMA patients. No homozygous deletion of exon 8 has been found. Homozygous deletion of exon 7 is more significant in the pathogenesis of SMA.
科研通智能强力驱动
Strongly Powered by AbleSci AI