Prenatal diagnosis of spinal muscular atrophy using multiple ligation-dependent probe amplification.
10.3760/cma.j.cn511374-20200522-00370
- 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.
