Genetic mapping of the dentinogenesis imperfecta type II locus

A. H. Crosby, T. Scherpbier-Heddema, C. Wijmenga, M. R. Altherr, J. C. Murray, Kenneth Buetow, M. J. Dixon

Research output: Contribution to journalArticle

33 Citations (Scopus)

Abstract

Dentinogenesis imperfecta type II (DGI-II) is an autosomal dominant disorder of dentin formation, which has previously been mapped to chromosome 4q12-21. In the current study, six novel short tandem-repeat polymorphisms (STRPs) have been isolated, five of which show significant evidence of linkage to DGI-II. To determine the order of the STRPs and define the genetic distance between them, nine loci (including polymorphisms for two known genes) were mapped through the CEPH reference pedigrees. The resulting genetic map encompasses 16.3 cM on the sex-averaged map. To combine this map with a physical map of the region, all of the STRPs were mapped through a somatic cell hybrid panel. The most likely location for the DGI-II locus within the fixed marker map is in the D4S2691-D4S2692 interval of 6.6 cM. The presence of a marker that shows no recombination with the DGI-II phenotype between the flanking markers provides an important anchor point for the creation of physical continuity across the DGI-II candidate region.

Original languageEnglish (US)
Pages (from-to)832-839
Number of pages8
JournalAmerican Journal of Human Genetics
Volume57
Issue number4
StatePublished - 1995
Externally publishedYes

Fingerprint

Dentinogenesis Imperfecta
Microsatellite Repeats
Chromosomes, Human, Pair 21
Hybrid Cells
Dentin
Pedigree
Genetic Recombination
Phenotype
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

Crosby, A. H., Scherpbier-Heddema, T., Wijmenga, C., Altherr, M. R., Murray, J. C., Buetow, K., & Dixon, M. J. (1995). Genetic mapping of the dentinogenesis imperfecta type II locus. American Journal of Human Genetics, 57(4), 832-839.

Genetic mapping of the dentinogenesis imperfecta type II locus. / Crosby, A. H.; Scherpbier-Heddema, T.; Wijmenga, C.; Altherr, M. R.; Murray, J. C.; Buetow, Kenneth; Dixon, M. J.

In: American Journal of Human Genetics, Vol. 57, No. 4, 1995, p. 832-839.

Research output: Contribution to journalArticle

Crosby, AH, Scherpbier-Heddema, T, Wijmenga, C, Altherr, MR, Murray, JC, Buetow, K & Dixon, MJ 1995, 'Genetic mapping of the dentinogenesis imperfecta type II locus', American Journal of Human Genetics, vol. 57, no. 4, pp. 832-839.
Crosby AH, Scherpbier-Heddema T, Wijmenga C, Altherr MR, Murray JC, Buetow K et al. Genetic mapping of the dentinogenesis imperfecta type II locus. American Journal of Human Genetics. 1995;57(4):832-839.
Crosby, A. H. ; Scherpbier-Heddema, T. ; Wijmenga, C. ; Altherr, M. R. ; Murray, J. C. ; Buetow, Kenneth ; Dixon, M. J. / Genetic mapping of the dentinogenesis imperfecta type II locus. In: American Journal of Human Genetics. 1995 ; Vol. 57, No. 4. pp. 832-839.
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