Characterization of an analphoid, neocentromere-positive inv dup 8p marker chromosome using multiplex whole chromosome and sub-telomere FISH analyses

M. Velinov , H. Gu , M. Genovese , C. Duncan , P. Warburton , S.Sklower Brooks , E.C. Jenkins
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引用次数: 4

Abstract

A 30-year-old male patient with mild mental retardation was found to have a small supernumerary marker chromosome (SMC) in 90% of his peripheral blood cells and in 100% of his fibroblast cells. Multiplex whole chromosome and sub-telomere FISH analyses were used to determine that this SMC is an inverted duplicated distal chromosome 8p fragment. Although it was negative for alpha-DNA sequences, this marker had a functional kinetochore (neocentromere) demonstrated by a positive signal with a CENP-C antibody. Apparently intact 8p telomeres at the marker’s ends were demonstrated by using a telomere repeat FISH probe. The patient’s phenotypically normal mother on G-banding analysis had a small marker chromosome in 8% of her peripheral blood cells in two cultures of the first specimen studied. The marker was not seen in any subsequent maternal peripheral blood or fibroblast specimens. Although it was impossible to further characterize the maternal SMC, it was suggested that the mother had the same marker as the one seen in the proband. Inverted duplicated chromosomal fragments are the most frequent type of analphoid markers. Stable inverted duplicated 8p marker chromosomes were previously reported in three other patients. They all apparently occurred de novo and were found to be positive for kinetochore-associated proteins. Evidence for the possible inheritance of an inverted-duplicated, analphoid SMC was not shown to-date. This study also demonstrates a practical, straighforward approach for analphoid marker characterization in clinical laboratory settings, using whole chromosome multiplex and subtelomere-specific FISH analyses. FISH probes for all sub-telomere chromosomal regions are commercially available and the large majority of analphoid marker chromosomes involve telomere regions.

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利用多重全染色体和亚端粒FISH分析鉴定一条新中心点阳性的类人猿inv - 8p标记染色体
一例30岁男性轻度智力迟钝患者,90%的外周血细胞和100%的成纤维细胞中发现一个小的多余标记染色体(SMC)。多重全染色体和亚端粒FISH分析确定该SMC是一个反向复制的远端染色体8p片段。虽然它对α - dna序列是阴性的,但该标记具有功能的着丝粒(新着丝粒),通过与CENP-C抗体的阳性信号证明。使用端粒重复FISH探针证明了标记末端明显完整的8p端粒。在g带分析中,患者表型正常的母亲在第一个标本的两个培养中有8%的外周血细胞有一个小的标记染色体。在随后的母体外周血或成纤维细胞标本中未见该标记物。虽然不可能进一步表征母体SMC,但建议母亲具有与先证者相同的标记。反向重复的染色体片段是最常见的类人猿标记。之前在另外三名患者中报道了稳定的倒置重复8p标记染色体。它们显然都是从头发生的,并且被发现对着丝酶相关蛋白呈阳性。到目前为止,还没有证据表明可能遗传反向复制的analphoid SMC。本研究还展示了一种实用的、直接的方法,用于临床实验室设置的anal类标记表征,使用全染色体多重性和亚端粒特异性FISH分析。所有亚端粒染色体区域的FISH探针都是市售的,绝大多数anal类体标记染色体涉及端粒区域。
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