Gene Sequencing and Prenatal Diagnosis of Spinal Muscular Atrophy

Objective: To understand the Chinese children spinal muscular atrophy (SMA) gene deletion , gene sequences to explore the SMA for prenatal genetic diagnosis value and feasibility of the SMA seeking fast and reliable method for prenatal diagnosis . Methods: one case of a normal gene on the 7th SMNt exons and one case diagnosed as SMNt gene homozygous deletion SMA patients SMNc the 7th exon genes were sequenced . SMA positive family history collection has four cases of fetal umbilical cord blood or amniotic fluid cells , the application of a mismatch polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) analysis SMNt gene exon 7 deletion detection . Results : SMNt and SMNc gene on the 7th exon length is 187bp, only one nucleotide sequence of both the difference (T-gt; C), consistent with the foreign reports . 2 cases of fetal cord blood collection , one case detected SMNt gene homozygous deletion, diagnosed as SMA positive I terminate the pregnancy , and 1 gene was not detected SMNt pure and deletions ; another two cases were collected amniotic fluid cells were not detected in the fetus to SMNt gene homozygous deletion . Three cases diagnosed as SMA female fetus , the mother to continue the pregnancy , are smooth output a normal child . Conclusion : The Chinese Children with SMA gene sequences consistent with the foreign reports , the pathogenesis is also based on