Fukushima Y
Hokkaido Igaku Zasshi. 1986 Nov;61(6):935-46.
A simple method for obtaining high-resolution banding patterns on elongated chromosomes is devised as follows: Peripheral lymphocytes cultured for 3 days with phytohemagglutinin were exposed to 10 micrograms/ml ethidium bromide for 2 hours and with 0.02 micrograms/ml colcemid for 1 hour prior to harvesting. After preparation by steam-dry method, high-resolution G-bands were obtained by Giemsa staining following exposure to hydrogen peroxide and trypsin treatment. 19 cases of the Prader-Willi syndrome, 3 cases of the aniridia-Wilms' tumor syndrome, 2 cases of the Langer-Giedion syndrome, 2 cases of retinoblastoma and 6 cases with multiple congenital anomalies whose diagnosis was not made by routine chromosome analysis were examined by this method. 18 of the 19 cases of the Prader-Willi syndrome had a deletion of 15q11.2. 2 of the 3 cases of the aniridia-Wilms' tumor syndrome had a deletion of 11p13 and the other had a balanced insertion with a breakpoint at 11p13. The 2 cases of the Langer-Giedion syndrome had a deletion of 8q23.3-24.13. One of retinoblastoma had a deletion of 13q14 and the other had a balanced reciprocal X/13 translocation with breakpoints at Xp11.21 and 13q12.3. The last 6 cases had subtle chromosomal aberrations: 46, XX, del (5) (q15q22), 46, XX, del (13) (q32.3), 46, XX, inv dup (6) (p25p21.3), 46, XX, -5, +der (5), t (3; 5) (p23; p13) mat, 46, XX, -5, +der (5), t (5; 9) (p13.3p21) mat, and 46, XX, -4, +der (4), t (4; 16) (p15.2; p13.1) pat. The simple method for high-resolution banding of chromosomes is useful for diagnosis of many kinds of birth defects.
用植物血凝素培养3天的外周血淋巴细胞，在收获前用10微克/毫升溴化乙锭处理2小时，并用0.02微克/毫升秋水仙酰胺处理1小时。通过蒸汽干燥法制备后，经过氧化氢处理和胰蛋白酶处理后用吉姆萨染色获得高分辨率G带。用该方法检查了19例普拉德-威利综合征、3例无虹膜-威尔姆斯瘤综合征、2例朗格-吉迪恩综合征、2例视网膜母细胞瘤以及6例常规染色体分析未明确诊断的多发先天性畸形病例。19例普拉德-威利综合征中有18例存在15q11.2缺失。3例无虹膜-威尔姆斯瘤综合征中有2例存在llp13缺失，另1例有一个平衡插入，断点在11p13。2例朗格-吉迪恩综合征存在8q23.3 - 24.13缺失。1例视网膜母细胞瘤存在13q14缺失，另1例有一个平衡的相互X/13易位，断点在Xp11.21和13q12.3。最后6例有细微的染色体畸变：46, XX, del(5)(q15q22)、46, XX, del(13)(q32.3)、46, XX, inv dup(6)(p25p21.3)、46, XX, -5, +der(5), t(3; 5)(p23; p13)mat、46, XX, -5, +der(5), t(5; 9)(p13.3p21)mat以及46, XX, -4, +der(4), t(4; 16)(p15.2; p13.1)pat。这种简单的染色体高分辨率显带方法对多种出生缺陷的诊断很有用。
