Result of carrier screening for spinal muscular atrophy among 3049 reproductive-age individuals from Yunnan region.
10.3760/cma.j.issn.1003-9406.2020.04.005
- Author:
Yinhong ZHANG
1
;
Lei WANG
;
Jing HE
;
Jingjing GUO
;
Chanchan JIN
;
Xinhua TANG
;
Jinman ZHANG
;
Hong CHEN
;
Jie ZHANG
;
Jie SU
;
Baosheng ZHU
Author Information
1. Department of Medical Genetics, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan 650032, China. bszhu@aliyun.com.
- Publication Type:Journal Article
- MeSH:
China;
Female;
Genetic Carrier Screening;
Genetic Counseling;
Genetic Variation;
Heterozygote;
Humans;
Male;
Muscular Atrophy, Spinal;
genetics;
Pregnancy;
Prenatal Diagnosis;
Survival of Motor Neuron 1 Protein;
genetics;
Survival of Motor Neuron 2 Protein;
genetics
- From:
Chinese Journal of Medical Genetics
2020;37(4):384-388
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To perform carrier screening for spinal muscular atrophy (SMA) among 3049 reproductive-age individuals from Yunnan region and determine the copy number of survival motor neuron (SMN) gene and carrier frequencies.
METHODS:Multiplex ligation-dependent probe amplification (MLPA) was used to determine the copy number of exon 7 of SMN1 and SMN2 genes and identify those with a single copy of SMN1 gene. Prenatal diagnosis was performed for couples whom were both found to be SMA carriers.
RESULTS:In total 62 SMA carriers were identified among the 3049 subjects, which yielded a carrier frequency of 1 in 49 (2.03%). No statistical difference was found in the carrier frequency between males and females (1.91% vs. 2.30%, P>0.05). Respectively, 1.3% (41/3049) and 0.69% (21/3049) of the carriers were caused by heterozygous deletion and conversion of the SMN1 gene. The average copy number for SMN1 alleles was 1.99. Two couples were found to be both as SMA carriers, for whom the birth of an affected fetus was avoided by prenatal diagnosis.
CONCLUSION:No difference was found in the carrier frequency of SMA-related mutations between the two genders in Yunnan region, which was in keeping to an autosomal recessive inheritance pattern. Determination of the carrier frequency for SMA and SMN gene variants may provide a basis for genetic counseling and prenatal diagnosis for the disease.
