Dissertation > Medicine, health > Obstetrics and Gynaecology > Obstetrics > Fetus

Gene Sequencing and Prenatal Diagnosis of Spinal Muscular Atrophy

Author LiWenLei
Tutor DingXinSheng
School Nanjing Medical University
Course Neurology
Keywords Spinal Muscular Atrophy SMN gene Prenatal diagnosis Gene sequencing Umbilical cord blood Amniotic fluid cells
CLC R714.5
Type Master's thesis
Year 2005
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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

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