Analysis of Pathogenic Gene Carriers and Prenatal Diagnosis Results in 13472 Cases of Spinal Muscular Atrophy
- VernacularTitle:13472例脊髓性肌萎缩症致病基因携带及产前诊断结果分析
- Author:
Zeyan ZHONG
1
;
Guoxing ZHONG
1
;
Dina CHEN
1
;
Zhiyong WU
1
;
Zhiyang GUAN
1
;
Shaohui HUANG
1
;
Kunxiang YANG
1
;
Jianhong CHEN
1
Author Information
1. 惠州市第一妇幼保健院医学遗传与产前诊断科,广东惠州 516007
- Publication Type:Journal Article
- Keywords:
Spinal muscular atrophy;
Carrier screening;
Survival motor neuron gene 1;
Prenatal diagnosis
- From:
Journal of Practical Obstetrics and Gynecology
2025;41(8):688-692
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the carrier rate and the genetic distribution characteristics of spinal muscular atrophy(SMA)pathogenic genes in Huizhou,and analyze the prenatal diagnosis results of fetuses from couples who are both carriers,in order to provide scientific reference for genetic counseling and prenatal diagnosis.Meth-ods:13472 peripheral blood samples were collected for the survival motor neuron gene 1(SMN1)testing at Huizhou First Maternal and Child Health Care Hospital from August 2021 to October 2024.And prenatal diagnosis was conducted on high-risk pregnant couple who were both carriers of SMA pathogenic genes.Fluorescence quantitative polymerase chain reaction(PCR)was used to detect the copy numbers of SMN1 exon 7 and 8(E7,E8),screen for SMA pathogenic gene carriers,and calculate the carrier rate.For samples identified as homozy-gous deletions and prenatal diagnosis samples,further validation of copy number variations in E7 and E8 of the SMN1 gene was performed using multiplex ligation-dependent probe amplification(MLPA)technology.Results:Among the 13472 screened individuals,268 carriers of the SMA pathogenic gene were detected,with a carrier rate of approximately 1/50(1.99％,268/13472).Among them,there were 251 cases of E7 and E8 heterozygous dele-tion,3 cases of E7 heterozygous deletion and E8 homozygous deletion,and 14 cases of pure E7 heterozygous de-letion;2 cases of E7 and E8 homozygous deletion were detected.One case had obvious motor developmental dis-orders in the child,and the other case had a normal phenotype in the pregnant woman.Among 20 couples who were both SMA carriers,17 pregnant women underwent prenatal diagnosis.The results showed that 4 cases were normal E7 and E8 types,7 cases were E7 and E8 heterozygous deletion types,all of whom continued to conceive.6 cases were E7 and E8 homozygous deletion type,namely SMA patients,and the pregnancy was terminated by pregnant women.Conclusions:This study reports the carrier rate of SMA pathogenic genes in the population of Huizhou for the first time,and the combined use of MLPA for prenatal diagnosis of high-risk couples can effective-ly prevent the birth of SMA children,which is of great significance for the prevention and control of SMA birth de-fects.
