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Nucleic Acids Research, 1985, Vol. 13, No. 17 6075-6088
© 1985


Articles

Isolation of polymorphic DNA segments from human chromosome 21

Paul C. WatKins1, Rudolph E. Tanzi2, Kerin T. Gibbons2, James V. Tricoli3, Greg Landes1, Roger Eddy3, Thomas B. Shows3 and James F. Gusella2,*

1Integrated Genetics Inc. 31 New York Avenue, Framingham, MA 01701 2Neurogenetics Laboratory, Massachusetts General Hospital, Department of Genetics, Harvard University 10 Fruit St, Boston, MA 02114 3Department of Human Genetics, Roswell Park Memorial Institute Buffalo, NY 14263, USA

*To whom correspondence should be addressed

Received June 14, 1985. Revised August 12, 1985. Accepted August 12, 1985.

A somatic cell hybrid line containing only human chromosome 21 on a mouse background has been used as the source of DNA for construction of a recombinant phage library. Individual phages containing human inserts have been identified. Repeat-free human DNA subclones have been prepared and used to screen for restriction fragment length polymorphisms to provide genetic markers on chromosome 21. Nine independently isolated clones used as probes identified a total of 11 new RFLPs. Four of the DNA probes recovered from the library have been mapped unequivocally to chromosome 21 using a panel of somatic cell hybrid lines. A fifth probe detected an RFLP on chromosome 21 as well as sequences on other chromosomes. This set of RFLPs may now form the basis for construction of a genetic linkage map of human chromosome 21.


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