Linkage maps of human chromosomes / Howard Hughes Medical Institute.

Date:
1987
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Linkage maps of human chromosomes / Howard Hughes Medical Institute. Source: Wellcome Collection.

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    for linkage. A large percentage of uninformative matings in either a disease linkage study or in high resolution studies with closely linked markers in the СЕРН families can be devastating, yielding quite inconclusive results. Fortunately, a paradigm approach developed by Alec Jeffreys using sequences from known, highly polymorphic loci to scr<.en genomic libraries at low stringency has, permitted the ascertainment by our group of a large collection of highly informative, multi-allelic markers based on Variable Number Tandem Repeat (VNTR) loci. We expect these marker loci to become the primary anchor points of the genetic linkage maps, especially useful in the initial localization phase of linkage studies with disease families and in the development of high resolution chromosome maps. In addition, the screening produces a number of single and multiple restriction site polymorphisms. These become particularly important in genetically defining regions where the VNTR loci are only widely spaced and in fine structure mapping. B. Reference Families The choice of family resources for the development of the linkage maps has been critical. Complete, three generation families with large sibships have proven a highly efficient source of segregation data. We have ascertained, sampled and established lymphoblastoid cell lines from all available members of 46 large Utah families. Interestingly, the efficiency has been found not only in the collection of data, but in the analysis as well. The СЕРН initiative has made DNAs from a defined set of 40 reference pedigrees, including 27 of the Utah families, wide]у available to investigators. Use of this archival set of reference families makes it possible for an investigator to take advantage of the