概括
研究人员在22号染色体上确定了一个特定的DNA区域,即断点集群区域 (bcr). 这一区域始终参与费城染色体阳性慢性髓细胞白血病 (CML),这表明它在疾病中的关键作用.
科学领域:
- 分子生物学分子生物学
- 人类遗传学 人类遗传学
- 在瘤学瘤学.
背景情况:
- 慢性骨髓细胞白血病 (CML) 是一种骨髓增殖性瘤.
- 费城 (Ph) 染色体转位是CML的一个标志.
- 驱动CML病原体的特定遗传变化需要进一步阐明.
研究的目的:
- 为了识别和描述参与费城转位断点的DNA区域.
- 在CML患者中调查该区域内染色体重组的频率.
主要方法:
- 从染色体22中克隆人类DNA的分子克隆,使用特定于Ph转位断点的探针.
- 用克隆区域的探针对19名CML患者的DNA进行染色体重排的分析.
主要成果:
- 从染色体22成功克隆了一个46kB的DNA区域.
- 在克隆的DNA中确定了一个关键的5.8kb"断点集群区域" (bcr).
- 在19名Ph阳性CML患者中,17名的染色体突破点位于BCR内.
- 两个Ph阴性CML患者在BCR中缺乏重新安排.
结论:
- 断点集群区域 (bcr) 始终参与CML中的费城转移.
- 这些发现强烈地表明bcr在费城染色体阳性CML的发病过程中.
- BCR是了解CML发展的关键分子标.
相关概念视频
Karyotyping
67.9K
Overview
67.9K
Lampbrush Chromosomes
8.5K
In 1882, Flemming observed lampbrush chromosomes (LBC) in salamander eggs. Later in 1892, Rückert observed LBCs in shark egg cells and coined the term "lampbrush chromosomes" because they looked like brushes used to clean kerosene lamps.
LBCs are made up of two pairs of conjugating homologous chromatids. Each chromatid consists of alternatively positioned regions of condensed-inactive chromatin and loosely placed-active side loops, which can be contracted and extended. The loops...
LBCs are made up of two pairs of conjugating homologous chromatids. Each chromatid consists of alternatively positioned regions of condensed-inactive chromatin and loosely placed-active side loops, which can be contracted and extended. The loops...
8.5K
Separation of Sister Chromatids
4.2K
At the transition from prophase to metaphase, there is a reduction in cohesion along the chromosomal arms, resulting in the resolution of sister chromatids. However, residual cohesin connections remain to hold the sister chromatids together until the transition from metaphase to anaphase. The residual connection prevents any premature separation of sister chromatids, blocking the risks of aneuploidy within the daughter cells.
At the onset of anaphase, separase, a proteolytic enzyme, is...
At the onset of anaphase, separase, a proteolytic enzyme, is...
4.2K
Fixing Double-strand Breaks
14.1K
The double-stranded structure of DNA has two major advantages. First, it serves as a safe repository of genetic information where one strand serves as the back-up in case the other strand is damaged. Second, the double-helical structure can be wrapped around proteins called histones to form nucleosomes, which can then be tightly wound to form chromosomes. This way, DNA chains up to 2 inches long can be contained within microscopic structures in a cell. A double-stranded break not only damages...
14.1K
Polytene Chromosomes
10.8K
Polytene chromosomes are giant interphase chromosomes with several DNA strands placed side by side. They were discovered in the year 1881 by Balbiani in salivary glands, intestine, muscles, malpighian tubules, and hypoderm of larvae Chironomus plumosus. Hence, these are also called "Salivary gland chromosomes." These are found in insects of the order Diptera and Collembola; in certain organs of mammals; and synergids, antipodes of flowering plants. Polytene chromosomes are also...
10.8K
Chromosome Structure
25.7K
A functional eukaryotic chromosome must contain three elements: a centromere, telomeres, and numerous origins of replication.
The centromere is a DNA sequence that links sister chromatids. This is also where kinetochores, protein complexes to which spindle microtubules attach, are constructed after the chromosome is replicated. The kinetochores allow the spindle microtubules to move the chromosomes within the cell during cell division.
Telomeres consist of non-coding repetitive nucleotide...
The centromere is a DNA sequence that links sister chromatids. This is also where kinetochores, protein complexes to which spindle microtubules attach, are constructed after the chromosome is replicated. The kinetochores allow the spindle microtubules to move the chromosomes within the cell during cell division.
Telomeres consist of non-coding repetitive nucleotide...
25.7K


