Other

Adelaide Medical Centre for Women and Children

Melanie April Pritchard

John Charles Mulley

Jean-Louis Mandel

Xavier Estivill Palleja

Robert I Richards

Sui Yu

Eric J Kremer

Ramaiah Nagaraja

David Schlessinger

Grant R Sutherland

Michael Lynch

Elizabeth Baker

Jordi Guimera Vilaro

Juan Jose Fuentes

An isolated human Down Syndrome critical region (MNB) DNA sequence having the nucleotide sequence depicted in SEQ ID NO:1; vector including the human Down Syndrome critical region (MNB) sequence; and isolated host cells containing the vector are provided.

Human gene sequence of the down syndrome critical region of human chromosome 21, coding for a serine-threonine protein kinase (MNB), expressed in the neuronal regions affected in down syndrome

The DNA sequence spanning the fragile X site on the X human chromosome has been obtained in purified and isolated form. As fragile X is associated with mental retardation, the availability of a DNA which spans this locus permits diagnosis and treatment of the related mental disorders. Polyclonal and monoclonal antibodies to an amino acid sequence encoded by SEQ ID NO:1, a DNA sequence from the Fragile X site, are also disclosed.

Monoclonal and polyclonal antibodies relating to fragile X syndrome

The DNA sequence spanning the fragile X site on the X human chromosome has been obtained in purified and isolated form. As fragile X is associated with mental retardation, the availability of a DNA which spans this locus permits diagnosis and treatment of the related mental disorders.

DNA sequences related to fragile X syndrome

By means of a new molecular cloning technique designated 'Alu-splicing PCR', we have isolated a new gene sequence, DSCR1, located in the 21q22.1-q22.2 region. DSCR1 displays a high expression in brain and heart, coding for a new protein with a proline-rich region and with some structural characteristics typical of a protein involved in transcription and/or in protein-protein interactions. The increase in the transient expression of DSCR1 mRNA in brains of young rats compared with the brains of adult rats suggests an important role of DSCR1 during the development of the central nervous system. The overexpression of pSCR1 may be involved in pathogenic abnormalities of mental retardation and/or heart defects in patients with Down syndrome.

Gene sequence of the Down syndrome critical region of human chromosome

Growing community of inventors

Barcelona, Spain

Melanie April Pritchard