X连锁还是常染色体隐性遗传？解决老问题的新方法。
X linked or autosomal recessive? A new approach to an old problem.
作者信息
Read A P
机构信息
Department of Medical Genetics, St. Mary's Hospital, Manchester.
出版信息
J Med Genet. 1989 May;26(5):305-8. doi: 10.1136/jmg.26.5.305.
Abstract
Families in which a single male is affected with a disease which might be either X linked recessive or autosomal recessive present problems in counselling. Before female relatives can be counselled, the probabilities of each mode of inheritance must be assessed, taking into account the prior probabilities, the pedigree structure, any DNA probe data, and any carrier testing data. The widely used linkage analysis package LINKAGE can be used to do the calculation, which is much simpler than the conventional Bayesian method.
摘要
在一个家庭中，如果只有一名男性患有某种疾病，而该疾病可能是X连锁隐性遗传或常染色体隐性遗传，那么在进行遗传咨询时就会出现问题。在为女性亲属提供咨询之前，必须评估每种遗传模式的概率，同时要考虑到先验概率、系谱结构、任何DNA探针数据以及任何携带者检测数据。广泛使用的连锁分析软件包LINKAGE可用于进行计算，这比传统的贝叶斯方法要简单得多。
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本文引用的文献
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Easy calculations of lod scores and genetic risks on small computers.在小型计算机上轻松计算连锁分析计分和遗传风险。
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Genetic counseling in Becker type X-linked muscular dystrophy. II: Practical considerations.贝氏X连锁肌营养不良的遗传咨询。II：实际考量。
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Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy.杜兴氏或贝克氏肌肉营养不良症患者肌肉活检标本中抗肌萎缩蛋白的特征分析。
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Patterns of exon deletions in Duchenne and Becker muscular dystrophy.杜兴氏和贝克氏肌营养不良症中外显子缺失模式
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Modern genetics and neuromuscular disorders.现代遗传学与神经肌肉疾病
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