Chromosome studies in human sperm nuclei using fluorescence in-situ hybridization (FISH)

作者: J Egozcue

DOI: 10.1093/HUMUPD/3.5.441

关键词: AneuploidyChromosome 21Chromosome abnormalityIntracytoplasmic sperm injectionTrisomyFluorescence in situ hybridizationChromosomeGeneticsSpermBiology

摘要: The use of chromosome specific DNA probes labelled with fluorochromes and especially the combination several has been used to indirectly study constitution decondensed sperm nuclei by fluorescence in-situ hybridization (FISH), allowed include this test in protocol infertile males. Still, if is be valid, strict conditions must met, some characteristics have taken into account. This becomes evident when comparing earlier results more recent ones. basic technical factors account are methods chromatin decondensation, number spermatozoa individuals study, internal controls, scoring criteria, specificity possible existence polymorphisms that may interfere detection fluorescent signals. In last 7 or 8 years, a large papers published, describing incidence aneuploidies whom tendency non-disjunction was suspected Studies controls shown considerable intra- inter-individual variability frequency aneuploidies, chromosomes undergo (chromosome 21 sex chromosomes) importance alpha-satellite using centromere probes. control population, aneuploidy per haploid set estimated at approximately 6%. for frequently involved trisomies considerably higher than these established through epidemiological data global abnormalities during peri-implantation stage. males sex-chromosome (usually very low numbers spermatozoa) show an increased diploid (multi-aneuploid?) nuclei. could related (especially aneuploidies) observed children conceived intracytoplasmic injection (ICSI).

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