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通过系谱分析对印度一些家庭的携带者状态进行评估。

Assessment of the carrier status by pedigree analysis in some families from India.

作者信息

Singh M, Kaur H

机构信息

Department of Human Biology, Punjabi University, Patiala, India. m_singh@ angelfire.com

出版信息

Haemophilia. 2002 Sep;8(5):680-4. doi: 10.1046/j.1365-2516.2002.00654.x.

Abstract

Pedigree analysis is an important tool to assess the carrier status of the females in the families of haemophiliac patients. A study was conducted on 85 families, of which 75 were of haemophilia type A and 10 of haemophilia type B. The probability values of the females being carriers were calculated by the Bayesian method. The results revealed that 45 mothers were genetic obligate carriers and the remaining 40 probable, hence the transmission was of familial nature in 45 families, whereas the remaining 40 were categorized as isolated cases. The probability values of 425 females were calculated and a wide range of probability values ranging from 0.0295 to 1 was observed.

摘要

系谱分析是评估血友病患者家庭中女性携带者状态的重要工具。对85个家庭进行了研究,其中75个为A型血友病家庭,10个为B型血友病家庭。采用贝叶斯方法计算女性为携带者的概率值。结果显示,45位母亲为遗传必然携带者,其余40位为可能携带者,因此45个家庭的遗传具有家族性,而其余40个家庭被归类为散发病例。计算了425名女性的概率值,观察到概率值范围很广,从0.0295到1不等。

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