引物原位杂交标记方法和应用的新进展

New developments in primed in situ labeling (PRINS) methods and applications

  • 摘要: 对引物原位杂交标记(PRINS)方法及在人类染色体疾病研究、诊断应用中的最新进展作一综述.引物原位杂交标记是一种新的分子细胞遗传学方法,因该法能提供快速(1-4h)、准确及高效的结果,正作为荧光原位杂交的替代或补充的方法在人类染色体研究中加以应用.多色引物原位杂交标记方法的发展使得同时研究若干个染色体目标成为可能.根据使用引物的不同,它可检测重复区段(着丝点、端粒或Alu家族)和单拷贝序列/基因.该法可应用于出生前、出生后或胚胎移植前的中期及间期细胞的临床诊断,其在染色体研究和临床诊断中的重要作用可分为:①识别数目变异(三体21,13和18,特纳氏综合症);②染色体标记的检测;③亚端粒缺失的快速区别;④微缺失综合症的诊断(Prader Willi, Angelman和DiGeorg等综合征);⑤精子中的染色体研究;⑥胚胎移植前甄别普通非整倍体;⑦癌症细胞遗传学研究.

     

    Abstract: To present a brief review on primed in situ labeling (PRINS) methods and applications.PRINS is a new molecular cytogenetic method and could serve as an alternative to, as well as a complementary approach to fluorescence in situ hybridization (FISH) for chromosome studies.PRINS can provide fast (1-4 h),reliable,and cost-effective results.Development of multi-color PRINS makes it possible to study several chromosome targets simultaneously.PRINS can detect repetitive(e.g.centromeric,telomeric or Alu repeats) and single copy sequences/genes,depending on the primers used.It is applicable to metaphase and interphase cells in postnatal,prenatal,or preimplantation diagnosis.PRINS has great potential in chromosome research and diagnosis,including:①identification of numerical aberrations(e.g.trisomies 21,13,and 18 and 45,X),②detection of chromosome markers,③rapid screening for subtelomere deletions,④diagnosis of microdeletion syndromes(e.g. Prader Willi/Angelman and DiGeorge/Velocardiofacial syndromes),⑤Chromosome studies in sperm,⑥preimplantation screening of common aneuploidies,and ⑦cancer cytogenetics.

     

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