ABSTRACT
OBJECTIVE@#To carry out prenatal diagnosis for families with high risk for spinal muscular atrophy (SMA) by using multiplex ligation-dependent probe amplification (MLPA).@*METHODS@#Twenty-one families were enrolled. MLPA was used to detect copy numbers of SMN1 and SMN2 genes. Maternal contamination was excluded by using a short tandem repeat method.@*RESULTS@#For 23 fetuses from the 21 families, 14 were identified as carriers, 1 as SMA patient, and 8 as normal. By linkage analysis of parental samples, three individuals were determined as silent (2+0) carriers.@*CONCLUSION@#MLPA can determine the carrier status of SMA. The identification of three silent (2+0) carriers among the 44 parental samples indicated a risk for such families, for which genetic counseling and reproduction guidance should be provided.
Subject(s)
Female , Humans , Pregnancy , Genetic Counseling , Heterozygote , Multiplex Polymerase Chain Reaction , Muscular Atrophy, Spinal/genetics , Prenatal Diagnosis , Survival of Motor Neuron 1 Protein/geneticsABSTRACT
The limited method demands for new technology in the management of male infertility. Raman spectroscopy is a rapid and sensitive non-invasive diagnosing technology. Raman spectroscopy was able to obtain Raman spectra from individual human sperm cells and allows for the comparison of their biochemical components, DNA and mitochondrial structure as well as epigenetic changes. This review provided an overview of the principle of each major types and discussed the progress in clinical application , indicating the potential of Raman spectroscopy as an valuable addition in assessing the quality of sperm cells for in vitro fertilization.