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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 2 1,13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 (PraderWilli,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。
This review summarizes the PRINS method and its application in research and diagnosis of human chromosome diseases. Primer in situ hybridization tagging is a new molecular cytogenetic approach because it provides fast (1-4h) accurate and efficient results and is being used as an alternative or complementary method to fluorescence in situ hybridization in human chromosome research In the application. The development of multicolor primer in situ hybridization labeling methods makes it possible to study several chromosomal targets simultaneously. Depending on the primers used, it can detect repeat segments (centromere, telomere or Alu family) and single-copy sequences / genes. The method can be applied to the clinical diagnosis of interphase and interphase cells before birth, after birth or before embryo transfer. The important role of this method in chromosome research and clinical diagnosis can be divided into: ① identification number variation (trisomy 2 1,13 And 18, Turner’s syndrome); (2) detection of chromosomal markers; (3) rapid differentiation of subtelomeric deletions; (4) diagnosis of microdeletion syndromes (PraderWilli, Angelman, and DiGeorg syndrome) ⑥ preimplantation screening ordinary aneuploidy; ⑦ cancer cytogenetics.