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使用DNA探针进行囊性纤维化分型:一家筛查实验室的经验。

Cystic fibrosis typing with DNA probes: experience of a screening laboratory.

作者信息

Harris A, Quinlan C, Bobrow M

机构信息

Paediatric Research Unit, United Medical School of Guy's Hospital, London, UK.

出版信息

Hum Genet. 1988 May;79(1):76-9. doi: 10.1007/BF00291715.

Abstract

A sample of 125 individuals from 37 British cystic fibrosis (CF) families with at least one living affected child were typed with probes for restriction fragment length polymorphisms (RFLPs) known to be linked to the CF gene. These probes were MetD, MetH, pJ3.11 and 7C22. Using this combination of probes, 30 out of the 37 families were sufficiently informative to enable prenatal diagnosis of the disease. Linkage analysis has also proved to be useful in excluding CF in two cases where diagnosis of the disease was equivocal in the sibling of an affected child.

摘要

从37个英国囊性纤维化(CF)家庭中选取了125名个体作为样本,这些家庭中至少有一个存活的患病儿童,用已知与CF基因连锁的限制性片段长度多态性(RFLP)探针进行分型。这些探针是MetD、MetH、pJ3.11和7C22。使用这种探针组合,37个家庭中有30个提供了足够的信息,能够对该疾病进行产前诊断。在两例患病儿童的同胞疾病诊断不明确的病例中,连锁分析也被证明有助于排除CF。

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