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目的 应用荧光原位杂交技术对 1例染色体结构异常患者进行分析 ,阐明结构异常性质 ,并精细定位断点。方法 对一先天表型异常经细胞遗传学检查有 t(5 ;10 )的病例 ,分别选用 5号染色体探针池以及用酵母人工染色体作为 DNA来源制备的断点区位点特异性探针 ,进行荧光染色体原位杂交。结果证实患者染色体异常属平衡易位 ,并将 5号和 10号染色体的断点分别定位到 1.5 Mb及约 3Mb的范围。结论 患者的先天性表型异常可能由断点处染色体细微重排或致病基因断裂所致。
Objective To analyze the abnormal chromosomal structure in 1 patient by fluorescence in situ hybridization to elucidate the structural abnormalities and locate the breakpoints finely. Methods A case of t (5; 10) cytogenetic abnormalities in a congenital phenotype was selected. A pool of chromosome probes 5 and a breakpoint site-specific probe prepared using a yeast artificial chromosome as a DNA source were selected for Fluorescent chromosome in situ hybridization. The results confirmed that patients with chromosomal abnormalities is a balanced translocation, and chromosome 5 and 10 breakpoints were located to 1.5 Mb and about 3Mb range. Conclusion Patients with congenital phenotype may be caused by subtle chromosomal rearrangement at the breakpoint or the rupture of a pathogenic gene.