[Gene diagnosis for spinal muscular atrophy and its application study].
OBJECTIVE
To establish an effective testing system for gene diagnosis, carrier detection and prenatal diagnosis for spinal muscular atrophy (SMA).


METHODS
Twenty-six patients with SMA were directly tested with PCR-RFLP for exon 7 deletion in the SMN1 gene. Carrier detection was carried out with multi-PCR-DHPLC. Amniotic fluid was taken at the middle stage of gestation from pregnant women who had given birth to affected children.


RESULTS
Twenty-five out of 26 patients were diagnosed as having SMN1 gene deletion. Fifty-two of their parents were found to be carriers of exon 7 deletion. Eight of 20 fetuses were diagnosed as having SMN1 gene deletion by PCR-RFLP.


CONCLUSIONS
PCR-RFLP and multi-PCR-DHPLC techniques can provide rapid diagnosis for exon 7 deletion detection and carrier detection. PCR-RFLP may also be adapted for prenatal gene diagnosis of exon 7 deletion in SMN1 gene.
Cao
Dong-hua
DH
Department of Medical Genetics, China Medical University, and The Second Affiliated Hospital, Shenyang, Liaoning, 110001 PR China.
Ren
Mei-hong
MH
Lin
Chang-kun
CK
Cui
Wan-ting
WT
Ma
Hong-wei
HW
Wu
Ying-yu
YY
Jin
Chun-lian
CL
D002648:Child; D005091:Exons / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D055532:SMN Complex Proteins / Q000235:genetics; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics*
D055532:SMN Complex Proteins; D055533:Survival of Motor Neuron 1 Protein