一例t（Y;15）并t（14;21）复合易位的细胞与分子遗传学研究

本文对一便生育过先天愚型儿的个体刊进行了细胞与分子遗传学研究。发现先证者拥有ｔ（１４；２１）用一个短臂增大变异为１５号标记染色体。通过Ｇ－显带、Ｃ－显带、Ｑ－显带、硝酸银染色及Ｙ染色体长臂异染色质区特异控针ｐＹ３．４对先证者基因组ＤＮＡ的斑点杂交和中期染色体的原位杂交，证实变异部分由Ｙ染色体长臂异染色质区易位所形成，从而排除了巨大随体的存在或其他染色体参与重排形成变的可能性，结果表明，常规显带与染

Cytogenetic and Molecular Genetic Study on a Female with Complex Translocation of t(Y;l5) and t(14;21)

A 27-year-old female having a baby with Down's syndrome was found to have a translocation t(14;21) and an acrocentric marker chromosome 15. The short arm of the marker was darkly stained in both G- and C-banded preparations, and had the normal Ag-NOR, but showed a homogenously stained region in the distal part of the marker. By means of QM staining, the variant was found fluorescent, and Y-body like was found in about 9% interphase nuclei, which suggested that there might exist Y chromosome material in genomic DNA of proband. Dot blot hybridization using DNA probe pY3.4 derived from the heterochromatic region on the long arm of Y chromosome demonstrated that the proband carried Y chromosome mate. rial in her genome. Further, by in situ hybridzation with the same probe, it showed that the variant of the marker had specific autoradiographic silver grains. So, the ka-ryotype of the proband indicated that the combination of conventional banding anal-ysis with chromosome-specific probe was of great significance in studying the micr-oaberration of human chromosome.