产前诊断SMN1基因7、8号外显子缺失突变致脊髓性肌萎缩症1例  

Prenatal diagnosis of SMA caused by deletion mutations in exon 7 and 8 of SMNI gene:One case report

作　　者：何建萍[1] 苏虹[2] 秦茂华[1] 党峰博[1] 罗胜军 唐健 吕梦欣 HE Jianping;SU Hong;QIN Maohua;DANG Fengbo;LUO Shengjun;TANG Jian;LYU Mengxin(Department of Medical Genetics and Prenatal Diagnosis,Kunming City Maternal and Child Health Hospital,Kunming,Yunnan 650031,China;Obstetric Clinic,Kunming City Maternal and Child Health Hospital,Kunming,Yunnan 650031,China)

机构地区：[1]昆明市妇幼保健院医学遗传与产前诊断科,云南昆明650031 [2]昆明市妇幼保健院产科门诊,云南昆明650031

出　　处：《中国优生与遗传杂志》2024年第7期1435-1438,共4页Chinese Journal of Birth Health & Heredity

基　　金：云南省科技厅科技计划项目-基础研究计划(202101BA070001-252)

摘　　要：目的探讨SMN1基因7、8号外显子缺失突变致SMA的基因产前诊断结果及再生育指导。方法分析一例SMA家族史的产前诊断病例,利用高通量DNA测序法+STR连锁分析及多重连接探针扩增技术(MLPA)进行产前诊断及家系分析和验证。结果通过MLPA检测到父母均为SMN1基因7、8号外显子杂合缺失突变,胎儿产前诊断高通量测序结果为7号染色体q11.21处重复0.68 Mb区域,MLPA检测结果为SMN1基因7、8号外显子纯合缺失突变。结论脊髓性肌萎缩症是一种遗传性神经肌肉疾病,导致进行性肌肉无力和萎缩等临床症状,产前基因检测确诊有助于预后评估、干预,进而降低出征缺陷率,对于有先证者的家庭,常规染色体核型分析及高通量测序无异常,建议进一步进行MLPA基因诊断。对于此类家庭提供优生遗传指导,并为再生育给予相应的指导和建议。Objective To investigate the prenatal diagnosis and reproductive guidance of SMN1 gene with exon 7,8 deletion mutation induced SMA.Methods One prenatal diagnosis report of family history of SMA was analyzed.High-throughput DNA sequencing,STR linkage analysis and multiple ligated probe amplification(MLPA)were used for prenatal diagnosis and family analysis.Results MLPA detected heterozygous deletion mutation of exon 7,8 of SMN1 gene in the par-ents.The high-throughput sequencing result of prenatal diagnosis of the fetus was the repeat 0.68 Mb region at qll.21 of chromosome 7.The MLPA detection result was homozygous deletion mutation of exon 7,8 of SMN1 gene.Conclusion Spinal muscular atrophy is a hereditary neuromuscular disease,which leads to progressive muscle weakness and atrophy and other clinical symptoms.Prenatal genetic detection is helpful for prognosis assessment,intervention,and further reduction of the incidence of defects.For families with proband,routine chromosome karyotyping and high-throughput sequencing are not abnormal,further MLPA genetic diagnosis should be recommended.For such families,eugenic genetic guidance should be provided.The corresponding guidance and suggestions should be given for reproduction.

关 键 词：产前诊断 SMN1基因7、8号外显子 脊髓性肌萎缩症 

分 类 号：R714.5[医药卫生—妇产科学]