| 45,X／46,X,r（？）嵌合型Turner综合征的分子细胞遗传学研究 |
| |
| 引用本文： | 石玉平,施惠平.45,X／46,X,r（？）嵌合型Turner综合征的分子细胞遗传学研究[J].中国医学科学院学报,1994,16(3):218-221. |
| |
| 作者姓名： | 石玉平 施惠平 |
| |
| 摘 要： | 应用高分辨染色体显带及X染色体α－卫星DNA探针原位杂交技术，对两例45，X／46，X，r（？）嵌合型Turner综合征患者进行分析，确定其环状标记染色体皆来源于X染色体，为临床诊断提供了可靠依据。将高分辨染色体显带等细胞遗传学技术与某些分子生物学技术结合，对于确定微小染色体异常具有广阔的应用前景。
|
| 关 键 词： | 标记染色体 高分辨染色体显带杂交 α－卫星DNA |
Molecular Cytogenetic Study of Turner's Syndrome with the 45, X/46, X,r(?) Karyotype |
| |
| Shi Yuping, Shi Huiping ,Ma Shaowu,et al.Molecular Cytogenetic Study of Turner''s Syndrome with the 45, X/46, X,r(?) Karyotype[J].Acta Academiae Medicinae Sinicae,1994,16(3):218-221. |
| |
| Authors: | Shi Yuping Shi Huiping Ma Shaowu |
| |
| Abstract: | Two small marker chromosomes were identified as X-derived ring chromosomes by us-ing the high-resolution banding technique and in situ hybridization with a radioactively labelled human X-chromosome-specific satellite DNA probe. This procedure clearly determined the origin of the marker chromosome, which had been impossible using conventionalcytogenetic techniques. The clinical significance of this work is briefly discussed. |
| |
| Keywords: | |
| 本文献已被 维普 等数据库收录！ |
|
