DNA Diagnostic Screening for Turner Syndrome and Sex Chromosome Disorders

Abstract

The present invention encompasses methods, assays and kits for the diagnosis, screening and identification of Turner syndrome and other disorders of sexual differentiation in a human using single nucleotide polymorphisms present on the X and Y chromosomes.

What is claimed: 
     
         1 . A kit comprising at least one primer that specifically binds at a position adjacent to a single nucleotide polymorphism on an X chromosome of an isolated DNA sample, an applicator, and an instructional material for use thereof,
 wherein said instructional material comprises instructions for diagnosing Turner syndrome mosaicism in a human female subject,   wherein said instructional material recites that the relative allele strength for bi-allelic single nucleotide polymorphisms is determined by pyrosequencing said bi-allelic single nucleotide polymorphisms using said at least one primer, and   wherein said instructional material further recites that:
 when said relative allele strength of all alleles tested is (i) greater than 5% and less than 45% or (ii) greater than 55% and less than 95%, Turner syndrome mosaicism is diagnosed in said subject; and, 
 when said relative allele strength of all alleles tested is less than 5% or greater than 95%, Turner syndrome associated with LOH (45X) is diagnosed in said subject; 
   wherein said at least one primer is selected from the group consisting of SEQ ID NO:26-48.   
     
     
         2 . The kit of  claim 1 , wherein said at least one primer comprises at least four primers. 
     
     
         3 . The kit of  claim 1 , wherein said primers are selected from the group consisting of SEQ ID NO:26, SEQ ID NO:27, SEQ ID NO:28, SEQ ID NO:38, SEQ ID NO:32, SEQ ID NO:43, SEQ ID NO:33, SEQ ID NO:34, SEQ ID NO:39, SEQ ID NO:42, SEQ ID NO:47, SEQ ID NO:48 and SEQ ID NO:46. 
     
     
         4 . The kit of  claim 1 , wherein said subject is selected from the group consisting of a human fetus, a female neonate and a female child.