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对有五次或更多次反复流产的夫妇进行端粒特异性荧光原位杂交分析。

Telomere-specific fluorescence in situ hybridization analysis of couples with five or more recurrent miscarriages.

作者信息

Yakut S, Berker-Karaüzüm S, Simşek M, Zorlu G, Trak B, Lüleci G

机构信息

Akdeniz University, School of Medicine, Department of Medical Biology and Genetics, Antalya, Turkey.

出版信息

Clin Genet. 2002 Jan;61(1):26-31. doi: 10.1034/j.1399-0004.2002.610105.x.

Abstract

Fluorescence in situ hybridization analysis using telomere specific probes has been used to detect cryptic translocations in the chromosomal telomeric regions. This study was performed in five clinically normal couples who have had five or more spontaneous abortions and whose karyotypes were found to be normal using conventional cytogenetic techniques. Using the telomere specific probes, in one couple we determined a cryptic translocation between chromosome 3 and 10, and, in another couple, the signal in chromosome 20 was detected in another chromosome, which was probably a D group chromosome. Additionally, in the latter and also in two other couples, we observed a polymorphism. The approach will be helpful for screening cryptic translocations using telomere specific multiple probe sets in couples with recurrent miscarriages. As prenatal diagnosis will be available for these couples for future pregnancies, it will be possible to help these families to have healthy fetuses.

摘要

使用端粒特异性探针的荧光原位杂交分析已被用于检测染色体端粒区域的隐匿易位。本研究对五对临床正常的夫妇进行,这些夫妇有五次或更多次自然流产,且使用传统细胞遗传学技术检测其核型正常。使用端粒特异性探针,在一对夫妇中我们确定了3号和10号染色体之间的隐匿易位,在另一对夫妇中,在另一条染色体上检测到20号染色体的信号,这条染色体可能是D组染色体。此外,在后者以及另外两对夫妇中,我们观察到了一种多态性。该方法将有助于使用端粒特异性多重探针组筛查反复流产夫妇中的隐匿易位。由于这些夫妇未来怀孕时可进行产前诊断,将有可能帮助这些家庭生育健康胎儿。

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