Aortic carboxypeptidase-like polypeptide

Abstract

The invention features a aortic carboxypeptidase-like polypeptide (ACLP), DNA encoding ACLP, and methods of detecting genetic alterations associated with abdominal wall defects.

1 - 25 . (canceled)  
     
     
         26 . A method of detecting a gastrosehisis associated genetic alteration diagnosing gastroschisis or a predisposition thereto comprising 
 (a) providing a sample of DNA from a patient or fetus; and    (b) determining whether said DNA comprises a mutation in a gene encoding an aortic carboxypeptidase-like polypeptide (ACLP), said mutation being an indication that said patient or fetus has a gastroschisis-associated genetic alterations thereby diagnosing gastroschisis or a predisposition thereto.    
     
     
         27 . The method of  claim 26 , wherein said sample is obtained by amniocentesis or chorionic villi sampling.  
     
     
         28 . The method of  claim 26 , wherein said method includes the step of subjecting said sample to polymerase chain reaction (PCR), using a forward PCR primer complementary to a portion of the antisense strand of said gene, said portion being within (a) a first intron of said gene, or (b) the 5′ untranslated region adjacent to the start codon of said gene; and a reverse PCR primer complementary to a fragment of the sense strand of said gene, said fragment being within (a) a second intron of said gene, or (b) the 3′ untranslated region adjacent to the termination codon of said gene.  
     
     
         29 - 30 . (canceled)  
     
     
         31 . A method of diagnosing gastroschisis or a predisposition thereto comprising 
 a) providing a tissue or fluid sample from a patient or fetus; and    b) measuring expression of an ACLP gene in said tissue or fluid sample, wherein a reduction in said expression in said tissue or fluid sample compared to that in a normal control tissue or fluid sample indicates that said patient or fetus has or is predisposed to developing gastroschisis.    
     
     
         32 . The method of  claim 31 , wherein said expression is measured by contacting said tissue or fluid sample with an ACLP-specific antibody.  
     
     
         33 - 40 . (canceled)  
     
     
         41 . The method of  claim 26 , wherein said sample is obtained from maternal tissue.  
     
     
         42 . The method of  claim 26 , wherein said sample is obtained from fetal tissue.  
     
     
         43 . The method of  claim 26 , wherein said sample is obtained from blood, placenta, or umbilical cord.  
     
     
         44 . The method of  claim 26 , wherein said mutation in said gene encoding an ACLP polypeptide is a mutation selected from a deletion, a restriction fragment length polymorphism (RLFP), a duplication, a point mutation, and a translocation.  
     
     
         45 . The method of  claim 26 , wherein said mutation in said gene encoding an ACLP polypeptide occurs in a region selected from: 
 (a) nucleotides 140-3613, inclusive, of SEQ ID NO:1; and    (b) nucleotides 214-3613, inclusive, of SEQ ID NO:1.    
     
     
         46 . The method of  claim 32 , wherein said ACLP-specific antibody is a monoclonal antibody.  
     
     
         47 . The method of  claim 32 , wherein said ACLP-specific antibody is a polyclonal antibody.  
     
     
         48 . The method of  claim 32 , wherein said ACLP-specific antibody binds to an ACLP polypeptide comprising the amino acid sequence of SEQ ID NO:2.  
     
     
         49 . The method of  claim 32 , wherein said ACLP-specific antibody binds to a fragment of an ACLP polypeptide comprising residues 117-164, inclusive, of SEQ ID NO:2.  
     
     
         50 . The method of  claim 32 , wherein said ACLP-specific antibody binds to a fragment of an ACLP polypeptide comprising residues 385-540, inclusive, of SEQ ID NO:2.  
     
     
         51 . The method of  claim 32 , wherein said ACLP-specific antibody binds to a fragment of an ACLP polypeptide comprising residues 562-969, inclusive, of SEQ ID NO:2.  
     
     
         52 . The method of  claim 31 , wherein said sample is a tissue sample.  
     
     
         53 . The method of  claim 31 , wherein said sample is a fluid sample selected from blood or plasma.  
     
     
         54 . The method of  claim 31 , wherein said expression is measured by detecting the level of ACLP transcript in said tissue or fluid sample.