家庭中有多个患有急性白血病的个体在他们的血统中
Peter H Wiernik1, Matthew P Blakley1, Janice P Dutcher1
1Cancer Research Foundation of New York, Chappaqua, NY, USA.
概括
这项研究研究了家族性急性白血病,包括急性髓性白血病 (AML) 和B细胞急性淋巴细胞白血病 (B-ALL). 研究结果表明,X染色体基因在某些遗传性白血病病例中可能起作用.
科学领域:
- 遗传学 是一个遗传学.
- 血液学 血液学 血液学
- 在瘤学瘤学.
背景情况:
- 家族性急性白血病呈现出独特的遗传模式.
- 以前的研究表明,家族急性白血病的自体主导遗传.
- 性染色体在白血病遗传中的作用需要进一步研究.
研究的目的:
- 分析急性髓性白血病 (AML) 和B细胞急性淋巴细胞白血病 (B-ALL) 多例家族遗传模式.
- 调查潜在的遗传因素,包括X染色体上的那些,有助于家族白血病.
- 确定多代白血病病例中的共同特征和遗传模式.
主要方法:
- 收集和审查41个家庭的医疗记录,其中有多例新型急性白血病.
- 分析受影响家庭中的父母-孩子,祖父母-孙子和兄弟姐妹关系.
- 在受影响的对中检查疾病一致性 (AML-AML,B-ALL-B-ALL,AML-B-ALL) 和性别一致性.
主要成果:
- 17个家庭显示了亲子急性白血病对,其中15个是同性伴侣.
- 确定了9对祖父母-孙子对患有急性髓性白血病 (AML-AML),其中6对是同性伴侣.
- 20个家庭有多个患有急性白血病的兄弟姐妹,包括16对和4个三倍.
- 在多代夫妇中观察到预期.
- 虽然通常与自体主导遗传相一致,但一些模式表明可能的X染色体基因参与.
结论:
- 家族性急性白血病表现出复杂的遗传模式.
- 这些数据支持这样一个假设:一个X染色体基因,可能在伪自体区域,可能会导致一些家族的白血病.
- 需要进一步的研究来阐明家族性急性白血病的遗传基础,特别是性染色体的作用.
更多相关视频
09:57Comprehensive Protocol to Sample and Process Bone Marrow for Measuring Measurable Residual Disease and Leukemic Stem Cells in Acute Myeloid Leukemia
Published on: March 5, 2018
29.3K
10:49Pre-clinical Evaluation of Tyrosine Kinase Inhibitors for Treatment of Acute Leukemia
Published on: September 18, 2013
18.1K
相关概念视频
Lethal Alleles
15.4K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
15.4K
Pedigree Analysis
84.2K
Overview
84.2K
Disorders of Leukocytes
937
Leukocyte disorders can lead to either leukopenia, characterized by an abnormally low leukocyte count, or leukocytosis, marked by a very high leukocyte number.
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune...
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune...
937
Combination Therapies and Personalized Medicine
4.9K
Combining two or more treatment methods increases the life span of cancer patients while reducing damage to vital organs or tissue from the overuse of a single treatment. Combination therapy also targets different cancer-inducing pathways, thus reducing the chances of developing resistance to treatment.
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
4.9K
Bone Marrow Sampling and Transplants
324
Bone marrow transplant is a potential cure for several diseases, including cancer and specific genetic disorders. Notably, this procedure is applicable for patients suffering from aplastic anemia, certain types of leukemia, severe combined immunodeficiency disease (SCID), Hodgkin's disease, non-Hodgkin's lymphoma, multiple myeloma, thalassemia, sickle-cell disease, and certain cancers.
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy...
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy...
324
Cancers Originate from Somatic Mutations in a Single Cell
11.9K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
11.9K
