Use of primed in situ labeling (PRINS) for the detection of telomeric deletions associated with mental retardation

被引：14

作者：

Bonifacio, S

Centrone, C

Da Prato, L

Scordo, MR

Estienne, M

Torricelli, F

机构：

[1] Careggi Hosp, Cytogenet & Genet Unit, I-50134 Florence, Italy

[2] SDS GA Core Lab, Monza, Italy

[3] Careggi Hosp, Infantile Neuropsychiat Unit, Florence, Italy

[4] Natl Neurol Inst C Besta, Infantile Neurospychiat Div, Milan, Italy

来源：

CYTOGENETICS AND CELL GENETICS | 2001年 / 93卷 / 1-2期

关键词：

D O I：

10.1159/000056939

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Rearrangements involving the telomeric regions of human chromosomes are often associated with mental retardation. These rearrangements. however, are difficult to detect using conventional cytogenetic techniques. We propose the use of primed in situ (PRINS) labeling as an alternative to fluorescence in situ hybridization because it is very fast, reproducible, and simple to perform. Sixty-five children with unexplained mental retardation were studied using PRINS technology; two of them were shown to have a telomeric deletion. Copyright (C) 2001 S. Karger AG, Basel.

引用

页码：16 / 18

页数：3

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