Nucleic Acids Research, 1985, Vol. 13, No. 11 4125-4132
© 1985
Articles |
Cloned DNA probes regionally mapped to human Chromosome 21 and their use in determining the origin of nondisjunction
University of Glasgow, Department of Medical Genetics, Duncan Guthrie Institute of Medical Genetics Yorkhill, Glasgow G3 8SJ, UK
Received April 15, 1985. Accepted May 16, 1985.
A number of unique sequence recombinont DNA clones were isolated from a recombinant DNA library constructed from DNA enriched for chromosome 21 by flow sorting. Of these, five were mapped to chromosome 21 using a somatic cell hybrid. Regional mapping of these probes and of a probe previously assigned to chromosome 21, was carried out with the aid of chromosome 21 rearrangements using both chromosome sorting and a somatic cell hybrid. Three probes were 3hown to be located on either side of the breakpoint 21q21.2. Two of the probes were shown to identify restriction fragment length polymorphisms (RFLPs ) with high rare-allele frequencies (0.46 and 0.43). A Bgl II RFLP revealed the parental origin of non-disjunction in three of ten families with Down's syndrome
*Current address: Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, U.S.A.
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