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首页> 外文学位 >Detection of aneuploidy for chromosomes 7 and 8 using fluorescence in situ hybridization in patients with aplastic anemia and sequencing of the mitotic checkpoint gene hBUB1.
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Detection of aneuploidy for chromosomes 7 and 8 using fluorescence in situ hybridization in patients with aplastic anemia and sequencing of the mitotic checkpoint gene hBUB1.

机译：在再生障碍性贫血患者中使用荧光原位杂交技术检测7号和8号染色体的非整倍性，并对有丝分裂检查点基因hBUB1进行测序。

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摘要

Aplastic anemia (AA) is characterized by complete bone marrow failure. Progression to myelodysplastic syndromes (MDS) and acute nonlymphocytic leukemia (ANLL) occurs frequently. At the time of transformation, cytogenetic abnormalities are common. Detection of cytogenetic abnormalities prior to leukemic transformation may indicate future disease progression. Karyotype analysis is the current method of choice to evaluate chromosome aberrations. However, fluorescence in situ hybridization (FISH) is more sensitive in detecting these abnormalities.; hBUB1, a mitotic spindle checkpoint gene, was shown to be mutated in two colorectal cancer cell lines with high levels of aneuploidy (Cahill, et al., 1998). Although theoretically possible, conclusive evidence does not currently exist establishing a link between aneuploidy levels and mutations within a mitotic spindle checkpoint gene. hBUB1 is the most characterized of the mitotic checkpoint genes.; FISH was used to detect cytogenetic abnormalities for chromosomes 7 and 8 in bone marrow samples from patients with AA. In addition, ribonucleic acid (RNA) from all patient samples also underwent hBUB1-specific reverse transcription polymerase chain reaction (RT-PCR), followed by sequencing of the RT-PCR product. Statistical analyses were performed on FISH and sequencing results. Additional samples from patients with a variety of bone marrow disorders also underwent hBUB1-specific RT-PCR and sequencing without FISH analysis.; Seven patient samples out of 46 (15.2%) showed elevated levels of aneuploidy for chromosomes 7, 8, or both. Four of the seven samples showed abnormalities previously undetected by a karyotype analysis. This indicates that FISH analysis is approximately twice as sensitive as a karyotype analysis, and may assist in earlier diagnosis and proper treatment of patients with AA. Statistical analysis showed an increased level of monosomy 8 in African-American males. The age of the patient and responsiveness to treatment did not correlate with the level of aneuploidy. Results from the hBUB1-specific RT-PCR and sequencing were inconclusive due to the high probability of Taq-induced PCR artifact, however there was no apparent correlation between the presence of aneuploidy and the sequencing results. Seventy-eight to 85% of all patient samples analyzed did not amplify any hBUB1-specific RT-PCR product.
机译：再生障碍性贫血（AA）的特征是完全骨髓衰竭。经常发生骨髓增生异常综合症（MDS）和急性非淋巴细胞性白血病（ANLL）。在转化时，细胞遗传学异常是常见的。在白血病转化之前检测细胞遗传学异常可能表明未来疾病发展。核型分析是评估染色体畸变的当前选择方法。然而，荧光原位杂交（FISH）在检测这些异常中更为敏感。有丝分裂纺锤体检查点基因 hBUB1 在两个非整倍性高的结直肠癌细胞系中被突变（Cahill等，1998）。尽管从理论上讲是可能的，但目前尚无确凿证据在非整倍性水平与有丝分裂纺锤体检查点基因内的突变之间建立联系。 hBUB1 是有丝分裂检查点基因中最具特征的。 FISH用于检测AA患者骨髓样本中7号和8号染色体的细胞遗传学异常。此外，所有患者样品中的核糖核酸（RNA）也进行了 hBUB1 特异性逆转录聚合酶链反应（RT-PCR），然后对RT-PCR产物进行测序。对FISH和测序结果进行统计分析。其他患有多种骨髓疾病的患者的样本也进行了 hBUB1 特异性RT-PCR和测序，而未进行FISH分析。 46个样本中有7个（15.2％）患者样本显示7号，8号染色体或两者的非整倍性水平升高。七个样本中有四个显示出以前无法通过核型分析发现的异常。这表明FISH分析的敏感性大约是核型分析的两倍，可以帮助AA患者的早期诊断和正确治疗。统计分析显示，非裔美国人男性中8号单体性水平升高。患者的年龄和对治疗的反应性与非整倍性水平无关。由于Taq诱导的PCR伪像的可能性很高，因此 hBUB1 RT和PCR的结果尚无定论，但非整倍体的存在与测序结果之间没有明显的相关性。分析的所有患者样品中有78％至85％没有扩增任何 hBUB1 特异性RT-PCR产物。

著录项

  • 作者

    Aridgides, Laura Jane.;

  • 作者单位

    Old Dominion University.;

  • 授予单位 Old Dominion University.;
  • 学科 Biology Genetics.; Biology Molecular.
  • 学位 Ph.D.
  • 年度 2001
  • 页码 154 p.
  • 总页数 154
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 遗传学;分子遗传学;
  • 关键词

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