摘要
目的通过对南海地区孕妇人群进行运动神经元存活基因1(SMN1)检测筛查,获得该地区部分人群的脊髓性肌萎缩症(SMA)携带率,并对高风险孕妇作进一步产前诊断及分析。方法选取2022年1—12月全南海地区送检SMA筛查检测的10995例孕妇临床病历及外周血样本,采用实时荧光定量PCR(RT-PCR)方法对样本SMN1基因的第7、8外显子(E7、E8)进行检测,若检测出异常结果,则进行脊髓性肌萎缩症基因诊断,并联系孕妇配偶进行SMA筛查检测并作相关产前诊断。结果在10995例自愿接受筛查孕妇中,共检出SMA携带者196例(SMN1基因E7单纯杂合缺失91例,SMN1基因E7、E8杂合缺失105例);SMN1基因E7、E8均纯合缺失1例,携带率为1.79%。检出夫妻双方同为SMA基因携带者4对,通过产前诊断及分析,最终未检出SMN1基因E7、E8均纯合缺失胎儿;检出SMN1基因单纯E7杂合缺失胎儿1例,SMN1基因E7、E8均杂合缺失胎儿1例,正常基因型胎儿2例。结论分析南海地区孕妇人群当中脊髓性肌萎缩症携带率,为进一步进行脊髓性肌萎缩症产前诊断方面的研究提供线索,可减少南海地区重型脊髓性肌萎缩症患儿出生,为提高人群水平的实施提供科学依据及技术支持。
Objective Through the analyze of the survival motor neuron 1(SMN1)gene1 of pregnant women in the Nanhai region,for part of the population in the region of spinal muscular aAtrophy(SMA)carrying rate,and further prenatal diagnosis and analysis of high risk pregnant women.Methods Choose between January 2022 and December 2022,Nanhai region,10995 cases of pregnant women in clinical medical records and peripheral blood samples were SMA screening tests,using quantitative real-time PCR(RT-PCR)for exon 7,exon 8 of SMN1(E7,E8)testing.If abnormal results are detected,a genetic diagnosis of spinal muscular atrophy is performed,and the pregnant woman's spouse is contacted for SMA screening tests and related prenatal diagnosis.Results Among 10995 pregnant women,196 SMA carriers were detected(91 SMN1 gene E7 heterozygosity deletion,105 SMN1 gene E7,E8 both heterozygosity deletion).There was one homozygous deletion of SMN1 gene E7 and E8,and the carrying rate was 1.79%.4 couples were detected as SMA gene carriers.Through prenatal diagnosis and analysis,no homozygous fetuses with SMN1 gene E7 and E8 were detected.SMN1 gene E7 heterozygosity deletion in 1 case,SMN1 gene E7,E8 heterozygosity deletion in 1 case,normal genotype in 2 cases.Conclusion To analyze the carrier rate of spinal muscular atrophy among pregnant women in the Nanhai region,and to provide clues for further research on prenatal diagnosis of spinal muscular atrophy,which can reduce the birth of severe spinal muscular atrophy in Nanhai region and provide scientific basis and technical support for the implementation at the population level.
作者
梁志钊
黄小玲
杨发达
黄广强
郑智
LIANG Zhizhao;HUANG Xiaoling;YANG Fada;HUANG Guangqiang;ZHENG Zhi(Department of Clinical Laboratory,Nanhai District Maternal and Child Health Hospital of Foshan City,Foshan,Guangdong 528200,China;Department of Physical Examination,Nanhai District Maternal and Child Health Hospital of Foshan City,Foshan,Guangdong 528200,China)
出处
《中国优生与遗传杂志》
2024年第1期183-187,共5页
Chinese Journal of Birth Health & Heredity
基金
2023年佛山市卫生健康局医学科研课题立项项目(20230232)。
