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High resolution genetic maps incorporating multiple classes of short tandem repeat polymorphisms

Journal Article · · American Journal of Human Genetics
OSTI ID:133346
;  [1];  [2]
  1. Univ. of Iowa, Iowa City, IA (United States)
  2. Harvard Univ., Boston MA (United States); and others

We have established the Cooperative Human Linkage Center (CHLC), a multi-institution effort to develop high resolution genome-wide maps for humans making use of short tandem repeat polymorphisms. A marker selection protocol that highly enriches libraries for the presence of individual classes of repeats including di-,tri- and tetranucleotides has been exploited. Individual clones from the library are sequenced, primers selected, heterozygosity assayed and chromosomal assignment determined using pooled monochromosomal cell hybrids. Individual markers are then genotyped between 8 and 18 CEPH families and genotypic information incorporated into continually updated framework genetic maps. In addition to incorporating genotypic information from markers developed through the center, we have incorporated existing published genotypes from sources such as the NIH Index mapping efforts, the NIH/CEPH consortium groups and Genethon. A set of framework maps has been constructed and includes 520 markers of tri- and tetranucleotide repeats developed by our group and over 3,000 STRPs from other groups. Error checking protocols allow for identification of potentially aberrant events and provide for maps of high integrity. The focus on tri- and tetranucleotide repeats allows for a class of makers that prove to be easy to genotype, readily transportable by standardized conditions to other laboratories and amenable to a variety of multiplexing procedures. We will present a series of skeletal, framework and comprehensive maps incorporating genotypes on 5,000 independently typed loci.

OSTI ID:
133346
Report Number(s):
CONF-941009--
Journal Information:
American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
Country of Publication:
United States
Language:
English

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