A high-resolution linkage map of the achondroplasia critical region on human chromosome 4q16.3
Journal Article
·
· American Journal of Human Genetics
OSTI ID:134727
- Vanderbilt Univ. School of Medicine, Nashville, TN (United States)
Achondroplasia is the most common nonlethal skeletal dysplasia, with an incidence of greater than 1/40,000 births. Recently, a random search of the genome using highly polymorphic autosomal markers has localized the gene for achondroplasia to the distal portion of human chromosome 4p. We report here the construction of a high-resolution linkage map of the critical region including the achondroplasia locus. The CEPH panel of pedigrees was genotyped at several loci using highly polymorphic markers, including the Huntington locus (IT15), D4S43, D4S115, and the gene for the {beta}-subunit of rod cGMP phosphodiesterase (PDEB). These data were incorporated into the CEPH v.6.6 database and a multipoint map was generated using the LINKAGE programs v.5.1. Based on reported recombination events in achondroplasia pedigrees, the gene for achondroplasia lies distal to the anonymous marker D4S43, in the 8 cM region defined as follows: cen-IT15-D4S43-D4S98-[D4S115-D4S111]-D4S90-PDEB. The disparity between the genetic distance and the physical distance (2 mB) among these markers likely reflects the high rate of recombination within the region. Extension of this linkage map further toward the telomere and identification of distal recombinant markers should expedite efforts directed toward isolation of the gene for achondroplasia.
- OSTI ID:
- 134727
- 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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