Genetic prediction and family structure in Huntington's chorea.
Genetic prediction and family structure in Huntington's chorea.
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亨廷顿舞蹈病的遗传预测和家族结构。
DOI：
10.1136/bmj.290.6486.1929
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发表时间：
1985
期刊：
影响因子：
--
通讯作者：
M. Sarfarazi
中科院分区：
文献类型：
--
作者：
P. Harper;M. Sarfarazi
存在一种与亨廷顿舞蹈症基因座相关联的脱氧核糖核酸标记，但它在预测这种疾病方面的可能用途取决于个别家庭的谱系结构。对南威尔士亨廷顿舞蹈症的人口登记数据的分析表明，只有少数处于危险中的受试者有合适的家庭成员活着，从而能够明确预测基因的存在或缺失。然而，在几乎90%的病例中，家庭结构允许对这些受试者怀孕期间的胎儿做出一定程度的预测(特别是排除这种疾病)。这样的预测不需要改变处于风险中的父母的风险状态。即使克服了目前连锁标记的局限性，该家族的结构仍将对预测至关重要。
A deoxyribonucleic acid marker linked to the locus for Huntington's chorea exists, but its possible use in the prediction of this disorder depends on the pedigree structure of individual families. Analysis of data from a population register for Huntington's chorea in south Wales showed that only a minority of subjects at risk had the appropriate members of their family living to allow the presence or absence of the gene to be definitively predicted. However, the structure of the family allowed a degree of prediction (in particular, exclusion of the disorder) to be made for the fetus during pregnancies of these subjects in almost 90% of cases. Such a prediction need not alter the risk state for the parent at risk. The structure of the family will remain crucial for prediction even when current limitations of the linked marker have been overcome.