Approaches to mapping genes for allergy and asthma.
Approaches to mapping genes for allergy and asthma.
复制标题
绘制过敏和哮喘基因图谱的方法。
DOI：
10.1164/ajrccm.152.1.7599858
复制
发表时间：
1995
影响因子：
24.7
通讯作者：
Bleecker,ER
中科院分区：
文献类型：
--
作者：
Meyers,DA;Bleecker,ER
人们对研究过敏和哮喘的遗传成分非常感兴趣。复杂遗传疾病的研究涉及四个不同的领域。它们包括家族研究、表型评估、分离分析和基因图谱。每个领域都很复杂，将提供有关这些疾病的自然史和潜在病理生理机制的有用信息。表型的初步评估必须实用、可重复，并且相对独立于复合变量。在过敏和哮喘中重要的可能表型包括特应性参数，例如血清总 IgE、支气管高反应性以及是否存在临床哮喘。支持这些研究的科学证据在许多家庭和双胞胎研究中发现，这些研究表明过敏、支气管高反应性和哮喘存在遗传成分。参与这些复杂遗传疾病的基因数量及其遗传模式尚未完全确定。家庭成员分类的初步结果表明，通过父母患有哮喘而确定的家庭后代中约有 26070 名具有哮喘表型。这些具有哮喘临床证据的后代中的许多人之前并没有医生诊断出哮喘，这表明哮喘的范围从临床前到症状性哮喘。这些家族中哮喘和其他阻塞性气道疾病的家族聚集与显着的遗传因素一致。已经对过敏和哮喘表型的两个特征进行了关联研究。血清总 IgE 的分离分析为隐性遗传模式提供了证据。最近的连锁数据表明 5q 区域对于过敏和哮喘中血清总 IgE 的调节很重要。更精确地绘制该区域的图谱将提高我们对这两种疾病的炎症调节的理解。这些关于过敏和哮喘的遗传学研究应该确定在这些疾病中重要的基本免疫学和病理生理学机制。它们还可能带来用于症状前诊断和疾病预防的新的具体疗法或方法。
There is major interest in investigating the genetic components of allergy and asthma. Four different areas are involved in the study of complex genetic diseases. They include family studies, assessment of phenotype, segregation analysis, and gene mapping. Each of these areas is complex and will provide useful information about the natural history and underlying pathophysiologic mechanisms responsible for these disorders. Initial assessment of phenotype must be practical, reproducible, and relatively independent from compounding variables. Possible phenotypes important in allergy and asthma include atopic parameters such as total serum IgE, bronchial hyperresponsiveness, and the presence or absence of clinical asthma. Scientific evidence supporting these studies is found in numerous family and twin studies that have suggested the presence of a heritable component for allergy, bronchial hyperresponsiveness, and asthma. The number of genes involved in these complex genetic disorders and their mode of inheritance has not been fully determined. Initial results of the classification of family members show that approximately 26070 of the offspring of families ascertained through a parent with asthma have an asthmatic phenotype. A large number of these offspring with clinical evidence of asthma do not have a prior physician diagnosis of asthma, suggesting that there is a spectrum that ranges from preclinical to symptomatic asthma. The familial aggregation of asthma and other obstructive airway diseases in these families is consistent with a significant genetic component. Linkage studies have been performed on two characteristics of the allergic and asthmatic phenotype. Segregation analysis of total serum IgE provided evidence for a recessive mode of inheritance. Recent linkage data suggest that regions of 5q are important in the regulation of total serum IgE in allergy and asthma. Efforts to more precisely map this region will improve our understanding of the regulation of inflammation in both of these disorders. These genetic studies on allergy and asthma should identify basic immunologic and pathophysiologic mechanisms that are important in these disorders. They may also lead to new specific therapies or methodology for presymptomatic diagnosis and disease prevention.
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影响因子：
56.9
作者：
MARSH, DG;NEELY, JD;BEATY, TH
通讯作者：
BEATY, TH
影响因子：
30.8
作者：
SHIRAKAWA, T;LI, AR;HOPKIN, JM
通讯作者：
HOPKIN, JM
影响因子：
158.5
作者：
BURROWS, B;MARTINEZ, FD;CLINE, MG
通讯作者：
CLINE, MG
影响因子：
6.1
作者：
Malcolm R. Sears;Benjamin Burrows;G. Herbison;E. Flannery;M. Holdaway
通讯作者：
M. Holdaway