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US 2007/0184452 A1Published application
Identification of a gene and mutation responsible for autosomal recessive congenital hydrocephalus
AssigneeChildren's Hospital, Inc.
InventorsMichael Robinson, Brian Davy
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Abstract
The invention relates to the polynucleotide sequence of the Hydrocephalus-associated gene (Hydin), the polypeptide it encodes and uses therefore. The invention also relates to the mutation in the Hydin gene that is responsible for the development of hydrocephalus. The invention provides for methods of diagnosing hydrocephalus and cilia dysfunction-related disorders.
Claims17
An isolated polynucleotide comprising the nucleic acid sequence selected from the group consisting of:
- (a) the polynucleotide sequence of SEQ ID NO:
- 1,
- (b) the polynucleotide sequence of SEQ ID NO:
- 3.
- (c) the polynucleotide sequence of SEQ ID NO:
- 14;
- (d) the polynucleotide sequence of SEQ ID NO:
- 16;
- (e) a polynucleotide that hybridizes under the following stringent conditions to the complement of any one of (a)-(e);
- (1) hybridization at 65° C. in a hybridization buffer comprising 0.5 M NaHPO4, and
- (2) washing at 65° C. in a wash solution comprising 1×SSC.
8 more elements
A method of detecting a mutation in the human Hydin gene comprising steps of:
- (a) contacting a biological sample with a compound that binds to the polynucleotide having the nucleic acid sequence of SEQ ID NO:
- 14;
- and
- (b) detecting binding between the compound and the polynucleotide, wherein binding indicates the presence of a mutation in the human Hydin gene in the sample.
1 more element
Dependencies are inferred from the claim text.