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26个家族中DNA标记与囊性纤维化的连锁关系。

Linkage of DNA markers to cystic fibrosis in 26 families.

作者信息

Spence J E, Rosenbloom C L, O'Brien W E, Seilheimer D K, Cole S, Ferrell R E, Stern R C, Beaudet A L

出版信息

Am J Hum Genet. 1986 Dec;39(6):729-34.

Abstract

Two DNA markers, the met oncogene and the anonymous probe, pJ3.11, previously reported to be tightly linked to cystic fibrosis (CF), were used for linkage analysis in 26 families with two or more individuals affected with CF. A new high frequency polymorphism was identified using BanI and the pmetD probe. The results of linkage analysis were as follows: between met and CF, lod score of 18.2 at theta of .009; between pJ3.11 and CF, lod score of 12.1 at theta of 0; and between met and pJ3.11, lod score of 16.7 at theta of 0. These data indicate that most or all of CF is due to an abnormality at a single locus and that the DNA markers are useful for prenatal diagnosis and heterozygote detection within affected families.

摘要

两个DNA标记,即原癌基因met和匿名探针pJ3.11,先前报道它们与囊性纤维化(CF)紧密连锁,在26个有两个或更多个体患CF的家庭中用于连锁分析。使用BanI和pmetD探针鉴定出一种新的高频多态性。连锁分析结果如下:在met与CF之间,在θ为0.009时lod值为18.2;在pJ3.11与CF之间,在θ为0时lod值为12.1;在met与pJ3.11之间,在θ为0时lod值为16.7。这些数据表明,大多数或所有CF是由于单个位点的异常所致,并且这些DNA标记可用于患病家庭中的产前诊断和杂合子检测。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3792/1684125/3fcbbbd0d351/ajhg00148-0053-a.jpg

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