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Objective To investigate the value of multiplex ligation⁃dependent probe amplification (MLPA) method in the prenatal diagnosis of spinal muscular atrophy (SMA). Methods Six SMA pedigrees, which included 7 patients, 12 parents and 6 fetuses, were admitted in our hospital. MLPA was used to detect the survival motor neuron (SMN) and other modifier genes, according to steps of hybridization, ligation, PCR reaction, fragment separation by capillary electrophoresis and peak pattern evaluation. Synchronously, the deletion of SMN1 gene was detected by polymerase chain reaction⁃restriction fragment length polymorphism (PCR⁃RFLP). The DNA samples of fetuses were collected by centrifuging the amniotic fluid as well as derived from amniotic cell culture. Results According to MLPA, 7 patients and 1 fetus were detected to carry homozygous deletion of survival motor neuron 1 (SMN1) gene, which was also detected by PCR⁃PFLP. In addition, 11 parents and 5 fetuses carried one copy of SMN1 gene, while 1 parent who was also a carrier of SMA carried two copies of SMN1 gene. Furthermore, after being analyzed by MLPA, 10 cases carried one copy of SMN2 gene, while 15 cases had two copies of SMN2 gene. After detecting the neuronal apoptosis inhibitory protein (NAIP) gene, 3 cases had the deletion of NAIP gene while others showed normal. Conclusion MLPA can detect the deletion and quantify the copy numbers of SMN and other modifier genes, improving the efficiency and stability of genetic diagnosis. It is adequate for detecting patients and carriers of SMA, as well as providing reliable evidence for genetic counseling. DOI：10.3969/j.issn.1672⁃6731.2012.03.012

BackgroundPost-stroke depression (PSD) , a common complication in stroke patients, may increase the disability and mortality, however, its pathogenesis is unknown yet.ObjectiveTo observe the white matter fiber bundle alterations by diffusion tensor tractography (DTT) , and to explore its correlation with depression in patients with PSD.MethodsParticipants were selected from the First Affiliated Hospital of Jinzhou Medical University from September 2019 to September 2020, involving 40 inpatients with first-episode ischemic stroke (20 were found with PSD, and 20 without) , and 20 physical examinees as healthy controls. DTT was performed in all participants, fractional anisotropy (FA) and number of fiber bundles in regions of interest (ROIs) were compared across PSD and non-PSD inpatients and healthy controls. Pearson correlation analysis was performed to analyze the correlations of FA and number of fiber bundles on the side of stroke in the ROIs with 24-item Hamilton Rating Scale for Depression (HAMD-24) in PDS inpatients.ResultsIn PSD inpatients, the FA of inferior fronto-occipital fascicles, corticospinal tract, frontopontine tract, cingulum bundle and uncinate fasciculus on the side of the stroke was significantly lower than those on the contralateral side (P