[Studies on the molecular diagnosis and prenatal diagnosis of the spinal muscular atrophy carriers by multiplex ligation-dependent probe].
OBJECTIVE
To study the application of the multiplex ligation-dependent probe amplification (MLPA) method in genetic and prenatal diagnosis for spinal muscular atrophy (SMA).


METHODS
Four patients, 16 parents and 4 fetuses from 8 SMA pedigrees were included. MLPA was performed for molecular analysis, and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used for the mutation detection of the 4 patients.


RESULTS
For all the four patients, the same homozygous deletion of the exons 7 and 8 of the survival motor neuron 1 (SMN1) gene, was detected by PCR-RFLP and MLPA. All fourteen parents from the 8 pedigrees were carriers of the SMN1 gene heterozygous deletion, except the mothers in pedigrees 1 and 4 in whom the mutations were different.


CONCLUSIONS
MLPA is a simple and efficient quantitative method for copy number analysis of the SMN genes. It can be used for the genetic diagnosis and prenatal diagnosis of the SMA patients and carriers.
Prenatal Diagnosis Center, the Affiliated Drumtower Hospital, Nanjing University School of Medicine,Nanjing, Jiangsu, 210008 P.R.China.
Haiyan
H
Zhu
Yali
Y
Hu
Jie
J
Li
Ying
Y
Yang
Xing
X
Wu
D000328:Adult; D054458:Amplified Fragment Length Polymorphism Analysis; D005091:Exons; D005260:Female; D006580:Genetic Carrier Screening; D006579:Heterozygote; D006801:Humans; D022521:Ligase Chain Reaction / Q000379:methods*; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D017384:Sequence Deletion; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics; D055815:Young Adult
D055533:Survival of Motor Neuron 1 Protein