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亨廷顿舞蹈症中的遗传预测与家族结构

Genetic prediction and family structure in Huntington's chorea.

作者信息

Harper P S, Sarfarazi M

出版信息

Br Med J (Clin Res Ed). 1985 Jun 29;290(6486):1929-31. doi: 10.1136/bmj.290.6486.1929.

Abstract

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.

摘要

与亨廷顿舞蹈症基因座相关的脱氧核糖核酸标记物是存在的,但其在预测这种疾病方面的潜在用途取决于各个家庭的谱系结构。对南威尔士亨廷顿舞蹈症人群登记数据的分析表明,只有少数有患病风险的受试者其家族中有合适的成员在世,从而能够明确预测该基因的有无。然而,在这些受试者的孕期中,家族结构使得在近90%的情况下能够对胎儿进行一定程度的预测(尤其是排除该疾病)。这样的预测并不需要改变有风险的父母的风险状态。即便当前相关连锁标记物的局限性被克服,家族结构对于预测而言仍将至关重要。

相似文献

1
Genetic prediction and family structure in Huntington's chorea.亨廷顿舞蹈症中的遗传预测与家族结构
Br Med J (Clin Res Ed). 1985 Jun 29;290(6486):1929-31. doi: 10.1136/bmj.290.6486.1929.
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Huntington's disease: prediction and prevention.亨廷顿舞蹈症:预测与预防
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