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以前一些研究部门提出外周血淋巴细胞进行fra(X)研究的准则。为评价这些准则,作者回顾了1033例应用于fra(X)分析的连续标本。每个标本是用培养基199和RPMI1640与5—氟脱氧尿苷或过量胸苷培养。核型与脆性X表达是由20个GTL或QFQ显带细胞来完成的,最多筛查了130个以上的显带细胞。我们在病人中发现37例(3.6%)非fra(X)的异常。在来自36个无亲缘关系家族的38例(3.7%)中发现4%以上的fra(X)细胞。507例存在脆性X综合征的表现,其中17例(3%)是fra(X)阳性。认为不象是脆性X综合征的异常有103例,其中3例(3%)是fra(X)阳性。应用染色体断裂和fra(X)(3)(p14)作为fra(X)应激系统质量控制指标是不可靠的。我们的发现支持大部分已提出的fra(X)研究准则,但表明一些准则还需要修正。
Some previous research departments proposed guidelines for fra (X) studies of peripheral blood lymphocytes. To evaluate these guidelines, the authors reviewed 1033 consecutive specimens used in the fra (X) analysis. Each specimen was cultured with Medium 199 and RPMI1640 with 5-fluorodeoxyuridine or with excess thymidine. Karyotype and Fragile X expression was performed with 20 GTL or QFQ banding cells, screening up to more than 130 banding cells. We found 37 (3.6%) non-fra (X) abnormalities in the patient. More than 4% of fra (X) cells were found in 38 (3.7%) from 36 unrelated families. Fifty-seven patients presented with fragile X syndrome, of which 17 (3%) were fra (X) positive. In 103 cases, 3 (3%) were found to be fra (X) -positive. The use of chromosomal fragmentation and fra (X) (3) (p14) as an indicator of the quality of the fra (X) stress system is not reliable. Our findings support most of the proposed fra (X) research guidelines, but show some of the guidelines still need to be revised.