Prenatal diagnosis of spinal muscular atrophy using multiple ligation-dependent probe amplification.
10.3760/cma.j.cn511374-20200522-00370
- VernacularTitle:应用多重连接探针扩增技术行脊髓性肌萎缩症产前诊断的结果分析与遗传咨询指导
- Author:
Yan XU
1
;
Junyu ZHANG
;
Chunxin CHANG
;
Songchang CHEN
;
Chenming XU
Author Information
1. Department of Reproductive Genetics, International Peace Maternity and Child Health Care Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200030, China. xuchenm@163.com.
- Publication Type:Journal Article
- MeSH:
Female;
Genetic Counseling;
Heterozygote;
Humans;
Multiplex Polymerase Chain Reaction;
Muscular Atrophy, Spinal/genetics*;
Pregnancy;
Prenatal Diagnosis;
Survival of Motor Neuron 1 Protein/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(3):214-218
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To carry out prenatal diagnosis for families with high risk for spinal muscular atrophy (SMA) by using multiplex ligation-dependent probe amplification (MLPA).
METHODS:Twenty-one families were enrolled. MLPA was used to detect copy numbers of SMN1 and SMN2 genes. Maternal contamination was excluded by using a short tandem repeat method.
RESULTS:For 23 fetuses from the 21 families, 14 were identified as carriers, 1 as SMA patient, and 8 as normal. By linkage analysis of parental samples, three individuals were determined as silent (2+0) carriers.
CONCLUSION:MLPA can determine the carrier status of SMA. The identification of three silent (2+0) carriers among the 44 parental samples indicated a risk for such families, for which genetic counseling and reproduction guidance should be provided.
