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利用从D7S8进行染色体跳跃的方法,从囊性纤维化区域分离出更多的多态性克隆。

Isolation of additional polymorphic clones from the cystic fibrosis region, using chromosome jumping from D7S8.

作者信息

Iannuzzi M C, Dean M, Drumm M L, Hidaka N, Cole J L, Perry A, Stewart C, Gerrard B, Collins F S

机构信息

Department of Internal Medicine, University of Michigan, Ann Arbor 48109.

出版信息

Am J Hum Genet. 1989 May;44(5):695-703.

Abstract

The cystic fibrosis (CF) locus has been located, by both linkage analysis and physical mapping, to a 900-kb region of 7q22-31 flanked by D7S8 (J3.11) and D7S23 (XV-2c). Using a 100-kb general jumping library, we isolated two sequential jump clones, J31 and J29, to one side of the D7S8 region and one jump clone, J32, to the other side of D7S8, so that the total region covered is about 300 kb. Three new RFLPs were detected by J29 and J32. Using PFGE mapping and the three jump clones, we found it possible to orient D7S8 on the chromosome and, by linkage analysis, to further narrow the CF region by 100 kb. The orientation of D7S8 will be useful for directing the isolation of other jump clones toward the CF locus. Though the newly described RFLPs are in considerable linkage disequilibrium with D7S8 polymorphisms, they increase the informativeness of genetic markers in the D7S8 region and should be useful in prenatal diagnosis.

摘要

通过连锁分析和物理图谱定位,囊性纤维化(CF)基因座位于7q22 - 31的一个900 kb区域,两侧分别为D7S8(J3.11)和D7S23(XV - 2c)。利用一个100 kb的通用跳跃文库,我们在D7S8区域一侧分离出两个连续的跳跃克隆J31和J29,在D7S8另一侧分离出一个跳跃克隆J32,这样总共覆盖的区域约为300 kb。J29和J32检测到三个新的限制性片段长度多态性(RFLP)。通过脉冲场凝胶电泳(PFGE)图谱分析和这三个跳跃克隆,我们发现可以确定D7S8在染色体上的方向,并且通过连锁分析,可将CF区域进一步缩小100 kb。D7S8的方向对于指导向CF基因座分离其他跳跃克隆将是有用的。虽然新描述的RFLP与D7S8多态性存在相当程度的连锁不平衡,但它们增加了D7S8区域遗传标记的信息量,并且在产前诊断中应该是有用的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6c3/1715642/fb27616451c1/ajhg00115-0078-a.jpg

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