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2000•Journal of Shanghai Tiedao UniversityRequires access

Prenatal Gene Diagnosis of Infantile Spinal Muscular Atrophy

Yu Zhang

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Abstract

Objective To carry out prenatal gene diagnosis in a pedigree of infantile spinal muscular atrophy (SMA).Methods Exon 7 deletion of SMN gene was detected in a 17w SMA risk fetus of one family using PCR Enzyme cut.Results The SMA risk fetus had no exon 7 deletion of SMN gene.Thus pregnancy shoud be continued.Conclusion Prenatal gene diagnosis may be the best measure to prevent the birth of SMA child.

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What this paper is about

Objective To carry out prenatal gene diagnosis in a pedigree of infantile spinal muscular atrophy (SMA).Methods Exon 7 deletion of SMN gene was detected in a 17w SMA risk fetus of one family using PCR Enzyme cut.Results The SMA risk fetus had no exon 7 deletion of SMN gene.Thus pregnancy shoud be continued.Conclusion Prenatal gene diagnosis may be the best measure to prevent the birth of SMA child.

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Available abstract

Objective To carry out prenatal gene diagnosis in a pedigree of infantile spinal muscular atrophy (SMA).Methods Exon 7 deletion of SMN gene was detected in a 17w SMA risk fetus of one family using PCR Enzyme cut.Results The SMA risk fetus had no exon 7 deletion of SMN gene.Thus pregnancy shoud be continued.Conclusion Prenatal gene diagnosis may be the best measure to prevent the birth of SMA child.

Key concepts: Spinal muscular atrophy, SMA*, Exon, Prenatal diagnosis, Fetus, Gene, Medicine, Pregnancy

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