Genomic analysis has emphasized the enormous genetic contribution to autism spectrum disorders, with over 80% of patients having changes demonstrable by high resolution chromosome (microarray) analysis or whole exome ...Genomic analysis has emphasized the enormous genetic contribution to autism spectrum disorders, with over 80% of patients having changes demonstrable by high resolution chromosome (microarray) analysis or whole exome sequencing. An overview of these genetic changes demonstrates the expected role of synaptic transmission in autism and, together with clinical observations, emphasizes the importance of visual input on developing sensory systems and social responses. Neonatal recognition of autism predisposition through genetic analysis could allow sensory stimulation therapies during periods of neuroplasticity, an approach analogous to strabismus correction before the cortical dissociation of the deviant eye.展开更多
Preimplantation genetic testing refers to the procedure to determine the genetic status of embryos formed by in vitro fertilization(IVF) prior to initiating a pregnancy.Traditional genetic methods for preimplantation ...Preimplantation genetic testing refers to the procedure to determine the genetic status of embryos formed by in vitro fertilization(IVF) prior to initiating a pregnancy.Traditional genetic methods for preimplantation genetic diagnosis(PGD) examine distinct parts of an individua genome, require the development of a custom assay for every patient family, and are time consuming and inefficient. In the last decade technologies for wholegenome amplification(WGA) from single cells have led to innovative strategies for preimplantation testing.Applications of WGA technology can lead to a universa approach that uses single-nucleotide polymorphisms(SNPs) and mutations across the entire genome for the analysis. Single-cell WGA by multiple displacement amplification has enabled a linkage approach to PGD known as "preimplantation genetic haplotyping", as well as microarray-based techniques for preimplantation diagnosis. The use of microarrays in preimplantation diagnosis has provided genome-wide testing for gains or losses of single chromosomes(aneuploidies)or chromosomal segments. Properly designed randomized controlled trials are, however, needed to determine whether these new technologies improve IVF outcomes by increasing implantation rates and decreasing mis-carriage rates. In genotype analysis of single cells, allele dropout occurs frequently at heterozygous loci. Preimplantation testing of multiple cells biopsied from blastocysts, however, can reduce allele dropout rates and increase the accuracy of genotyping, but it allows less time for PGD. Future development of fast SNP microarrays will enable a universal preimplantation testing for aneuploidies, single-gene disorders and unbalanced translocations within the time frame of an IVF cycle.展开更多
文摘Genomic analysis has emphasized the enormous genetic contribution to autism spectrum disorders, with over 80% of patients having changes demonstrable by high resolution chromosome (microarray) analysis or whole exome sequencing. An overview of these genetic changes demonstrates the expected role of synaptic transmission in autism and, together with clinical observations, emphasizes the importance of visual input on developing sensory systems and social responses. Neonatal recognition of autism predisposition through genetic analysis could allow sensory stimulation therapies during periods of neuroplasticity, an approach analogous to strabismus correction before the cortical dissociation of the deviant eye.
基金Supported by Department of Pediatrics,Medical College of Wisconsin,Milwaukee,WI,United States
文摘Preimplantation genetic testing refers to the procedure to determine the genetic status of embryos formed by in vitro fertilization(IVF) prior to initiating a pregnancy.Traditional genetic methods for preimplantation genetic diagnosis(PGD) examine distinct parts of an individua genome, require the development of a custom assay for every patient family, and are time consuming and inefficient. In the last decade technologies for wholegenome amplification(WGA) from single cells have led to innovative strategies for preimplantation testing.Applications of WGA technology can lead to a universa approach that uses single-nucleotide polymorphisms(SNPs) and mutations across the entire genome for the analysis. Single-cell WGA by multiple displacement amplification has enabled a linkage approach to PGD known as "preimplantation genetic haplotyping", as well as microarray-based techniques for preimplantation diagnosis. The use of microarrays in preimplantation diagnosis has provided genome-wide testing for gains or losses of single chromosomes(aneuploidies)or chromosomal segments. Properly designed randomized controlled trials are, however, needed to determine whether these new technologies improve IVF outcomes by increasing implantation rates and decreasing mis-carriage rates. In genotype analysis of single cells, allele dropout occurs frequently at heterozygous loci. Preimplantation testing of multiple cells biopsied from blastocysts, however, can reduce allele dropout rates and increase the accuracy of genotyping, but it allows less time for PGD. Future development of fast SNP microarrays will enable a universal preimplantation testing for aneuploidies, single-gene disorders and unbalanced translocations within the time frame of an IVF cycle.
