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使用连锁DNA探针进行囊性纤维化家族的基因分型。

Genotyping of cystic fibrosis families with linked DNA probes.

作者信息

Curtis A, Strain L, Brock D J

机构信息

Human Genetics Unit, University of Edinburgh, Western General Hospital, UK.

出版信息

Clin Genet. 1988 Jan;33(1):53-6. doi: 10.1111/j.1399-0004.1988.tb04265.x.

Abstract

Forty-six British families, containing at least one child affected with cystic fibrosis, were typed for restriction fragment length polymorphisms (RFLPs) by the probes pmet H, pmet D, pJ3.11 and 7c22. Thirty-five (76%) were fully informative for prenatal diagnosis and carrier detection, while in the remainder prenatal exclusion of an affected fetus could be carried out in half the pregnancies. The frequencies of individual alleles did not differ between cystic fibrosis and normal chromosomes. However, the previously noted excess of one haplotype on chromosomes carrying the cystic fibrosis gene was confirmed.

摘要

对46个英国家庭进行了检测,这些家庭中至少有一个孩子患有囊性纤维化,采用探针pmet H、pmet D、pJ3.11和7c22对其进行限制性片段长度多态性(RFLP)分型。35个家庭(76%)对于产前诊断和携带者检测具有完全信息,而在其余家庭中,半数妊娠可对受影响胎儿进行产前排除。囊性纤维化染色体和正常染色体之间单个等位基因的频率没有差异。然而,先前在携带囊性纤维化基因的染色体上观察到的一种单倍型过量情况得到了证实。

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