JP2006515992A5 - - Google Patents

Claims (10)

  Detecting at least one polymorphism in the human BMP2 gene of SEQ ID NO: 1, wherein the presence of “G” at nucleotide position 122247 of AL035668; presence of the “G” allele at position 118920 of AL035668; position of AL035668 Presence of “T” allele at 167584; Presence of “G” allele at position 138476 of AL035668; Presence of “T” allele at position 167584 of AL035668; Presence of “T” allele at TSC0428253; The presence of the "G" allele is "T" at nucleotide position 122247 of AL035668; "A" allele at position 118920 of AL035668; "C" allele at position 167584 of AL035668; "A" allele at position 138476 of AL035668 An individual having the presence of the "C" allele at position 167584 of AL035668; the "C" allele at TSC0428253; or the "A" allele of TSC0293456; A method for diagnosing susceptibility to osteoporosis in an individual, which is an index of susceptibility to osteoporosis compared to the body.   Detecting at least one polymorphism in the human BMP2 gene of SEQ ID NO: 1, wherein the polymorphism is T to G at position 122247 of AL035668; A to G at position 118920 of AL035668; at position 167584 of AL035668 Affection for osteoporosis in an individual selected from the group consisting of C to T; A to G at position 138476 in AL035668; C to T at position 167584 in AL035668; C to T in TSC0428253; A to G in TSC0293456 and combinations thereof How to diagnose sex. The method according to claim 1 or 2 , wherein a polymorphism is detected in a sample derived from a source selected from the group consisting of blood, serum, cells and tissues.   AL 035668 at position 122247 from T to G; AL035668 at position 121366 from C to T; AL035668 at position 118920 from A to G; AL035668 at position 167584 from C to T; AL035668 from position A at position 138476 An isolated nucleic acid molecule comprising a nucleic acid having one or more nucleic acid changes selected from the group consisting of G and combinations thereof.   An isolated polypeptide comprising an amino acid sequence selected from the group consisting of alanine at amino acid position 37, serine at amino acid position 94, serine at amino acid position 189, or a combination thereof. A method for diagnosing susceptibility to osteoporosis, comprising the step of detecting the polypeptide according to claim 5 which is an index of susceptibility to osteoporosis. Determining an amino acid at a position selected from the group consisting of position 37, position 94, position 1891 and combinations thereof comprises contacting the sample with an antibody specific for either a reference amino acid or a variant amino acid; The method of claim 6 . A pharmaceutical composition comprising the polypeptide of claim 5 . In the manufacture of a medicament for the treatment of osteoporosis in individual bodies, the use of a polypeptide according to claim 5. a) specific for BMP2 protein comprising serine at amino acid position 37, alanine at amino acid position 37, alanine at amino acid position 94, serine at amino acid position 94, arginine at amino acid position 189, serine at amino acid position 189, or combinations thereof At least one antibody selected from the group consisting of antibodies; and
b) A kit containing a reference BMP2 protein sample.