江门地区14378例育龄妇女的脊髓性肌萎缩症基因携带者筛查情况  

Carrier screening for spinal muscular atrophy in 14378 fertile women in Jiangmen Region

作　　者：李秋丽 石海弘 孙淑湘[1] 冯建江[1] 谭淑明 李智明 杨应松[1] LI Qiuli;SHI Haihong;SUN Shuxiang;FENG Jianjiang;TAN Shuming;LI Zhiming;YANG Yingsong(Jiangmen Maternal and Child Health Care Hospital,Jiangmen,Guangdong 529000,China)

机构地区：[1]江门市妇幼保健院,广东江门529000

出　　处：《中国优生与遗传杂志》2022年第3期509-511,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的 对广东省江门地区育龄妇女进行脊髓性肌萎缩症(SMA)携带者筛查,为疾病遗传咨询及进一步产前诊断提供理论依据,从而减少新生儿出生缺陷。方法 采用多重实时荧光定量PCR分别对筛查者SMN1基因第7、8外显子进行扩增并对拷贝数进行相对定量检测,筛查SMA携带者。结果 广东省江门地区的14378例育龄妇女中,236例为SMN1基因第7、8外显子杂合缺失携带者,15例为SMN1基因第7外显子杂合缺失携带者,携带率约为1/57(1.75%)。结论 开展携带者筛查、统计人群携带率对后续遗传咨询、疾病预防及减少出生缺陷具有重要的临床指导意义。Objective To provide theoretical basis for genetic counseling and further prenatal diagnosis and reduce birth defects of newborns,the carriers of spinal muscular atrophy(SMA) in fertile women in Jiangmen region of Guangdong province were screened.Methods Exons 7 and 8 of SMN1 gene were amplified by multiplex real-time fluorescence quantitative PCR,and the copy number was quantitatively detected.Results 236 carriers among 14378 women were heterozygosity deletion in exon 7 and 8 of SMN1 gene,15 carriers were heterozygosity deletion in exon 7 of SMN1 gene.The incidence of disease was about 1/57(1.75%).Conclusion Carrier screening and carrier rate determination are of great clinical significance for follow-up genetic counseling,disease prevention and reduction of birth defects.

关 键 词：脊髓性肌萎缩症 SMN1基因 杂合缺失 出生缺陷 

分 类 号：R744.8[医药卫生—神经病学与精神病学]