X-INACTIVATION PATTERNS IN LYMPHOCYTES AND SKIN FIBROBLASTS OF 3 CASES OF X-AUTOSOME TRANSLOCATIONS WITH ABNORMAL PHENOTYPES
X-INACTIVATION PATTERNS IN LYMPHOCYTES AND SKIN FIBROBLASTS OF 3 CASES OF X-AUTOSOME TRANSLOCATIONS WITH ABNORMAL PHENOTYPES
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DOI：
10.1007/bf00275190
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发表时间：
1984-01-01
期刊：
影响因子：
5.3
通讯作者：
PAGON, RA
中科院分区：
文献类型：
--
作者：
DISTECHE, CM;SWISSHELM, K;PAGON, RA
通过对 2 名携带平衡 X 常染色体易位 t(X;10)(pter;q11) 和 t(X;17)(q11;q11) 的患者以及 1 名携带不平衡易位 t(X;22)(p21;q11) 的患者的淋巴细胞和皮肤成纤维细胞进行复制分析来研究 X 失活模式。在携带平衡易位的两名患者的淋巴细胞和携带易位t(X;17)的患者的皮肤成纤维细胞中发现正常X染色体的优先晚期复制。具有 t(X;10) 易位的患者的皮肤成纤维细胞显示出异常 der(X) 染色体的优先晚期复制，而晚期复制没有扩散到常染色体片段。在不平衡易位 t(X;22) 的情况下，淋巴细胞和皮肤成纤维细胞中 der(X) 染色体优先进行晚期复制。患者的异常表型与观察到的 X 失活模式和不同组织中模式的变异性相关。
X-inactivation patterns were studied by replication analyses both in lymphocytes and skin fibroblasts of 2 patients carrying balanced X-autosome translocations, t(X;10)(pter;q11) and t(X;17)(q11;q11), and 1 patient with an unbalanced translocation t(X;22)(p21;q11). Preferential late replication of the normal X chromosome was found in lymphocytes of both patients carrying balanced translocations and in skin fibroblasts of the patient carrying the translocation t(X;17). Skin fibroblasts of the patient with a translocation t(X;10) showed preferential late replication of the abnormal der(X) chromosome with no spreading of late replication to the autosomal segment. In the case of unbalanced translocation t(X;22) there was preferential late replication of the der(X) chromosome both in lymphocytes and skin fibroblasts. The abnormal phenotype of the patients is discussed in relation to the observed X-inactivation patterns and the variability of the patterns in different tissues.