用FISH技术分析一例表型异常的染色体平衡易位

Analysis of a case of balanced chromosome translocation and phenotypic abnormality by fluorescence in situ hybridization

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 delineate the chromosome structural aberration in a case of chromosome translocation by fluorescence in situ hybridization (FISH) technique and precisely identify the breakpoints. Methods: The whole chromosome point 5(wcp5) and locus-specific probes derived from yeast artificial chromosomes (YACs) mapping the nearby region of breakpoints were used to delineate the translocation t(5;10) found by high resolution G-banding examination in a case with congenital abnormality. Results: A balanced translocation was confirmed and the breakpoints were located in the 1. 5 Mb area on chromosome 5 and within the approximately 3 Mb interval on chromosome 10. Conclusion: The phenotypic abnormality might result from the disruption of disease-associated gene(s) or microrearrangement(s) on the site of breakpoint(s).