通过X连锁疾病的携带者检测试验估算突变率的男女比例。
Estimation of male to female ratio of mutation rates from carrier-detection tests in X-linked disorders.
作者信息
Winter R M
出版信息
Am J Hum Genet. 1980 Jul;32(4):582-8.
Abstract
A method is presented for the estimation of the ratio of male to female mutation rates from female carrier-detection test data from pedigrees containing an isolated male manifesting an X-linked necessive disorder. Pedigrees of any size and complexity (barring consanguinity) and containing any number of tested females can be utilized. The relative fitness of affected males and carrier females, and the segregation probability of the abnormal gamete in females, can be estimated simultaneously with the ratio of mutation rates in order to test specific hypotheses against given bodies of data. Here this method is applied to families containing isolated individuals affected with Lesch-Nyhan syndrome.
摘要
本文提出了一种方法，可根据来自包含患有X连锁隐性疾病的孤立男性的家系的女性携带者检测测试数据，估算男性与女性突变率的比率。任何规模和复杂性（无血缘关系）且包含任意数量受试女性的家系均可使用。受影响男性和携带者女性的相对适合度，以及女性中异常配子的分离概率，可与突变率比率同时估算，以便针对给定数据集检验特定假设。本文将此方法应用于包含患有莱施-尼汉综合征的孤立个体的家庭。
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Carrier detection in Duchenne muscular dystrophy.杜氏肌营养不良症的携带者检测
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The laboratory diagnosis of the carrier state for classic hemophilia.经典血友病携带者状态的实验室诊断
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Spontaneous mutation in man.人类的自发突变。
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Estimation of proportion of new mutants among cases of Duchenne muscular dystrophy.杜氏肌营养不良症病例中新突变比例的估计。
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