Abstract:
:Craniosynostosis, the abnormal development of the calvarial sutures, occurs as an autosomal dominant trait in many clinically distinct syndromes. We performed linkage analysis of a provisionally novel type of autosomal dominant craniosynostosis in a large three generational family. Linkage was established between the craniosynostotic locus and D5S211, a locus defined by the short tandem repeat polymorphism (STRP) marker Mfd 154 in distal 5q. The maximum LOD score, Zmax, was 4.8 at a recombination fraction of zero. No significant linkage was found with markers located 30 cM and more proximal to D5S211. The findings assign the craniosynostotic locus in this family to a telomeric region in the long arm of chromosome 5. Linkage analysis with Mfd 154 in other autosomal dominant craniosynostotic syndromes should reveal whether these disorders are caused by mutations of genes at the same or at different loci.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Müller U,Warman ML,Mulliken JB,Weber JLdoi
10.1093/hmg/2.2.119subject
Has Abstractpub_date
1993-02-01 00:00:00pages
119-22issue
2eissn
0964-6906issn
1460-2083journal_volume
2pub_type
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