Abstract：
Several organizations have proposed guidelines for fra(X) studies on peripheral blood lymphocytes. To evaluate these guidelines, we reviewed 1,033 consecutive specimens referred for fra(X) analysis. Each specimen was cultured with medium 199 and RPMI 1640 with 5-fluorodeoxyuridine or excess thymidine. The karyotype and expression of fra(X) were established from 20 GTL- or QFQ-banded cells and by screening of up to 130 more banded cells. We found anomalies other than fra(X) in 37 (3.6%) of the patients. We found 4% or more fra(X) cells in 38 (3.7%) cases from 36 unrelated families, including 33 (3.9%) of 850 males and 5 (2.7%) of 183 females. Another 4 females had 1 to 3% fra(X) cells. Six specimens were fra(X)-positive in only one stress system, and 32 were positive in 2 systems. To find the first 2 fra(X) cells in males, we needed to study up to 36 cells in 31 cases, 50 in one case, and 57 in another. To find the first 2 fra(X) cells in females, we needed to study up to 17 cells in 4 cases and 57 in another. A strong family history of fra(X) occurred in 5 patients, and each one was fra(X)-positive. Some manifestations of the fragile X syndrome occurred in 507 cases, 17 (3%) of which were fra(X)-positive. Abnormalities considered unlikely to be the fragile X syndrome occurred in 103 cases, 3 (3%) of which were fra(X)-positive. Use of chromosome breakage and fra(3)(p14) as quality control indicators of the fra(X) stress systems was found to be unreliable.(ABSTRACT TRUNCATED AT 250 WORDS)
摘要：
一些组织已经提出了关于外周血淋巴细胞的fra（X）研究的指南。为了评估这些指南，我们回顾了1,033个连续标本，用于fra（X）分析。每个样本用培养基199和含有5-氟脱氧尿苷或过量胸苷的RPMI1640培养。从20个GTL或QFQ条带化细胞中并通过筛选多达130个条带化细胞来建立fra（X）的核型和表达。我们在37例（3.6％）的患者中发现了除fra（X）以外的异常。我们在36个无关家族的38例（3.7％）中发现4％或更多的fra（X）细胞，包括850名男性中的33名(3.9%)和183名女性中的5名(2.7%)。另外4名雌性具有1至3%的fra(X)细胞。六个标本在一个应力系统中呈fra(X)阳性，在2个系统中32个为阳性。要找到男性的前2个fra(X)细胞，我们需要在31例中研究多达36个细胞，50在一个案例中，57在另一个要找到女性的前2个fra(X)细胞，我们需要研究4例17个细胞和另一个57个细胞。5例患者有较强的fra（X）家族史，每个都是FRA（X）阳性。507例出现脆性X综合征的一些表现,其中fra(X)阳性17例(3%)。103例被认为不太可能是脆性X综合征的异常发生，其中3例(3%)为fra(X)阳性。发现使用染色体断裂和fra（3）（p14）作为fra（X）应力系统的质量控制指标是不可靠的。(抽象截尾250字)
