阿拉吉列综合征的分离分析
Segregation analysis of Alagille syndrome.
作者信息
Dhorne-Pollet S, Deleuze J F, Hadchouel M, Bonaïti-Pellié C
机构信息
INSERM U347, Bicêtre, France.
出版信息
J Med Genet. 1994 Jun;31(6):453-7. doi: 10.1136/jmg.31.6.453.
Abstract
Alagille syndrome (AGS) is a well defined genetic disorder characterised by five major features. An autosomal dominant mode of transmission with reduced penetrance has been suggested by the analysis of a limited number of families. However there has been no statistical analysis. We report here the first segregation analysis of AGS, using 33 families collected through 43 probands. Segregation analysis of these families allowed us to conclude that AGS is transmitted as a dominant disorder with 94% penetrance and 15% of cases are sporadic. The expressivity of the phenotype was variable and 26 persons (15 parents and 11 sibs) were identified as presenting minor forms of the disease. These results are valuable for genetic counselling.
摘要
阿拉吉耶综合征（AGS）是一种具有明确特征的遗传性疾病，由五个主要特征所界定。对有限数量家庭的分析表明，其遗传方式为常染色体显性遗传且外显率降低。然而，此前尚未进行统计学分析。我们在此报告了对AGS的首次分离分析，使用通过43名先证者收集的33个家庭。对这些家庭的分离分析使我们得出结论，AGS以显性疾病形式遗传，外显率为94%，15%的病例为散发性。该疾病表型的表达具有变异性，有26人（15名父母和11名同胞）被确定为患有该疾病的轻微形式。这些结果对遗传咨询具有重要价值。
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