用于70例特发性智力障碍患儿亚端粒重排的原位引物标记技术

Primed in situ labeling technique for subtelomeric rearrangements in 70 children with idiopathic mental retardation.

作者信息

Tian Hong, Yu Hui, Fu Siqing, Jin Runming

机构信息

Department of Medical Genetics, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.

Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China.

出版信息

J Huazhong Univ Sci Technolog Med Sci. 2011 Dec;31(6):834-836. doi: 10.1007/s11596-011-0686-7. Epub 2011 Dec 16.

DOI:10.1007/s11596-011-0686-7

PMID:22173508

Abstract

Subtelomeric rearrangements contribute to idiopathic mental retardation (MR), but most children with idiopathic MR do not show any chromosome abnormalities with standard cytogenetic analysis. The primed in situ labeling (PRINS) technique, using an oligonucleotide primer complementary to the telemetric repeat sequences (TTAGGG), can identify chromosome telomeric abnormality (deletion) in idiopathic MR children. In this study, seventy children with idiopathic MR were enrolled and subjected to PRINS. The results showed normal karyotype in all the children, subtelomeric rearrangements (1q del and 4q del) in 2 cases, which was confirmed by fluorescence in situ hybridization (FISH). It was concluded that PRINS is effective for the detection of subtelomeric rearrangements and may become a routine technique for cytogenetical abnormality screening.

摘要

亚端粒重排与特发性智力迟钝（MR）有关，但大多数特发性MR儿童通过标准细胞遗传学分析未显示任何染色体异常。引物原位标记（PRINS）技术使用与端粒重复序列（TTAGGG）互补的寡核苷酸引物，可识别特发性MR儿童的染色体端粒异常（缺失）。在本研究中，纳入了70例特发性MR儿童并对其进行PRINS检测。结果显示所有儿童核型正常，2例存在亚端粒重排（1q缺失和4q缺失），这通过荧光原位杂交（FISH）得以证实。得出的结论是，PRINS对于检测亚端粒重排有效，可能会成为细胞遗传学异常筛查的常规技术。