Prenatal diagnosis · 2005
Prenatal diagnosis of spinal muscular atrophy: Indian scenario.
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Kesari Akanchha, Rennert Hanna, Leonard Debra G B, Phadke Shubha R, Mittal Balraj
Аннотация
OBJECTIVES: To study the psychosocial issues associated with prenatal diagnosis of SMA in India and the use of SMN1 copy number analysis for carrier detection prior to offering prenatal diagnosis.
METHODS: Homozygous deletion of SMN1 gene was done by PCR-RFLP. Copy number analysis of SMN1 gene was performed by quantitative PCR.
RESULTS: We report our experience of eight cases of prenatal diagnosis for SMA and the use of carrier detection prior to offering prenatal diagnosis. Quantitative PCR results show that SMN1 copy number analysis is useful to identify couples at risk.
CONCLUSION: Case analyses depict unique psychosocial issues associated with prenatal diagnosis of SMA from India.
METHODS: Homozygous deletion of SMN1 gene was done by PCR-RFLP. Copy number analysis of SMN1 gene was performed by quantitative PCR.
RESULTS: We report our experience of eight cases of prenatal diagnosis for SMA and the use of carrier detection prior to offering prenatal diagnosis. Quantitative PCR results show that SMN1 copy number analysis is useful to identify couples at risk.
CONCLUSION: Case analyses depict unique psychosocial issues associated with prenatal diagnosis of SMA from India.
Предметные рубрики MeSH
Chorionic Villi SamplingCyclic AMP Response Element-Binding ProteinExonsFamilyFemaleGene DeletionGenetic Carrier ScreeningHumansIndiaMaleMuscular Atrophy, SpinalNerve Tissue ProteinsPolymerase Chain ReactionPolymorphism, Restriction Fragment LengthPreconception CarePregnancyPrenatal DiagnosisRNA-Binding ProteinsSMN Complex ProteinsSurvival of Motor Neuron 1 Protein