Methods for identifying genomic deletions

Abstract

The genomic locus responsible for Van Buchem's disease is narrowed to an approximately 92 kb region of human chromosome 17 at 17q21. Individuals afflicted with or carriers of Van Buchem's disease exhibit a 52 kb deletion within this 92 kb region. Methods are provided that permit the differentiation between individuals homozygous for and therefore afflicted with Van Buchem's disease, individuals heterozygous for and therefore carriers of Van Buchem's disease, and individuals who are normal with respect to Van Buchem's disease. Also provided are general methodologies for the detection of a wide variety of large genomic deletions.

1 - 40 . (canceled) 
     
     
         41 . A method for regulating expression of a SOST gene, comprising expressing a SOST protein product of a SOST coding sequence in the presence of at least one SOST gene regulatory sequence, wherein the SOST gene regulatory sequence comprises a polynucleotide which comprises a nucleic acid sequence of SEQ ID NO:2, or a complementary sequence thereto. 
     
     
         42 . The method of  claim 41  wherein the at least one SOST gene regulatory sequence is comprised within genomic DNA.