Methods for identifying heterozygous carriers of autosomal recessive diseases

Abstract

Novel methods are provided for identifying heterozygous carriers of autosomal recessive disorders such as Ataxia telangiectasia.

1 - 6 . (canceled)  
     
     
         7 . A plurality of isolated nucleic acid molecules comprising differentially expressed genes suitable for the identification of heterozygous carriers of Ataxia telangiectasia comprising at least four of the sequences of the seventy-one genes set forth in Table I.  
     
     
         8 . The plurality of isolated nucleic acids of  claim 7 , wherein at least nine genes are KLK5, COL15A1, BCL3, NRP2, KIAA0993, XPOl, IFNAR2, CGR19 and MLF2.  
     
     
         9 . The plurality of isolated nucleic acids of  claim 7 , wherein at least four genes are LIM, CDKN2D, TFRC and ARF6.  
     
     
         10 . The plurality of isolated of isolated nucleic acids of  claim 7 , wherein said plurality of isolated nucleic acid molecule are isolated on a solid surface.  
     
     
         11 . A plurality of isolated nucleic acid molecules comprising differentially expressed genes suitable for the identification of heterozygous carriers of Ataxia telangiectasia, wherein said plurality of isolated nucleic acid molecules are identified by the method comprising: 
 a) obtaining a nucleic acid sample from cells of heterozygous carriers of Ataxia telangiectasia and normal individuals;    b) generating detectably labeled probes from said nucleic acid samples;    c) contacting cDNA microarrays with said detectably labeled probes under conditions that facilitate hybridization between complementary nucleic acids, if any are present;    d) analyzing said cDNA microarrays for cDNA hybrids, if any are present; and    e) comparing hybridization profiles from said heterozygous carrier and normal nucleic acid samples, wherein those particular nucleic acid sequences which are differentially expressed between said heterozygous carrier of Ataxia telangiectasia and normal individuals comprise said plurality of isolated nucleic acid molecules.    
     
     
         12 . The plurality of isolated of isolated nucleic acids of  claim 11 , wherein said plurality of isolated nucleic acid molecule are isolated on a solid surface.  
     
     
         13 . The plurality of isolated of isolated nucleic acids of  claim 10 , wherein said solid surface is an array.  
     
     
         14 . The plurality of isolated of isolated nucleic acids of  claim 12 , wherein said solid surface is an array.  
     
     
         15 . The plurality of isolated of isolated nucleic acids of  claim 10 , wherein said solid surface is an aminoalkylsilane coated surface.  
     
     
         16 . The plurality of isolated of isolated nucleic acids of  claim 12 , wherein said solid surface is an aminoalkylsilane coated surface.