APPROACHES TO LOCALIZING DISEASE GENES AS APPLIED TO CYSTIC-FIBROSIS

被引：23

作者：

DEAN, M ^{[1
]}

DRUMM, ML ^{[1
]}

STEWART, C ^{[1
]}

GERRARD, B ^{[1
]}

PERRY, A ^{[1
]}

HIDAKA, N ^{[1
]}

COLE, JL ^{[1
]}

COLLINS, FS ^{[1
]}

IANNUZZI, MC ^{[1
]}

机构：

[1] UNIV MICHIGAN,HOWARD HUGHES MED INST,ANN ARBOR,MI 48109

来源：

NUCLEIC ACIDS RESEARCH | 1990年 / 18卷 / 02期

关键词：

D O I：

10.1093/nar/18.2.345

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Using chromosome jumping and walking and restriction fragment length polymorphism (RFLP) analysis, we have defined the region which must contain the cystic fibrosis gene. DNA segments spanning approximately 250 kb in the direction of the gene were isolated and used to identify several new polymorphisms informative in cystic fibrosis families. These RFLPs include a highly polymorphic, CA/GT repeat, and a 10 bp insertion uncovered using the polymerase chain reaction. By analyzing a family with a recombination near the gene, we can exclude this region as containing the mutation. Data on the extent of linkage disequilibrium of these markers provides additional information on where the gene is located. © 1990 Oxford University Press.

引用

页码：345 / 350

页数：6

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