经典和分子细胞遗传学方法在罕见易位t(3;21)诊断中的应用

Classical and molecular cytogenetic methods in diagnosis of a rare translocation t(3;21).

作者信息

Schmitt H, Sasiadek M, Jagielski J, Blin N

机构信息

Division of Molecular Genetics, Department of Anthropology and Human Genetics, University of Tübingen, D72074 Tübingen, Germany.

出版信息

Int J Mol Med. 1998 Mar;1(3):569-71. doi: 10.3892/ijmm.1.3.569.

DOI:10.3892/ijmm.1.3.569

PMID:9852264

Abstract

We report the characterization by traditional cytogenetic methods and fluorescence in situ hybridization (FISH) of a rare balanced reciprocal translocation t(3;21) in a male spouse connected with several miscarriages. G- and C-banding analysis of the male karyotype was suggestive of breakpoints in chromosomal bands 3q11.1 and 21p11.1. Multicolor-FISH analysis using chromosome-specific alpha-satellite probes in combination with a locus-specific bacterial artificial chromosome (BAC) from 21q22.3 allowed us both to identify the origin of centromeres in the derivative chromosomes and to establish centromere-telomere orientation of the translocated chromosome 21 segment. Characterization of the translocated chromosomes by FISH analysis permitted describing the exact karyotype of the carrier as: 46,XY,-3,-21,+der(3)(21qterO21q11. 2::3p11.2O cenO3qter),+der(21)(3pterO3p11.2::21q11.2OcenO21pte r).

摘要

我们报告了通过传统细胞遗传学方法和荧光原位杂交（FISH）对一名与多次流产相关的男性配偶中罕见的平衡相互易位t(3;21)进行的特征分析。对该男性核型进行的G带和C带分析提示染色体带3q11.1和21p11.1存在断点。使用染色体特异性α卫星探针结合来自21q22.3的位点特异性细菌人工染色体（BAC）进行的多色FISH分析，使我们既能确定衍生染色体中着丝粒的起源，又能确定易位的21号染色体片段的着丝粒-端粒方向。通过FISH分析对易位染色体进行特征分析，从而能够将携带者的确切核型描述为：46,XY,-3,-21,+der(3)(21qter→21q11. 2::3p11.2→cen→3qter),+der(21)(3pter→3p11.2::21q11.2→cen→21pter) 。