Patent ID: 6838240

Claim:
A method for determining whether a human subject is a carrier of a mutated BLM gene comprising: determining whether said human subject carries a mutated or unmutated BLM gene; wherein the unmutated BLM gene comprises SEQ ID NO:72 and wherein the mutated BLM gene comprises one or more of: i. a deletion of nucleotides 631-633 of SEQ ID NO:72; ii. a substitution of A with T at nucleotide 888 of SEQ ID NO:72; iii. an insertion of A after nucleotide 1610 of SEQ ID NO:72; iv. a substitution of A with G at nucleotide 2089 of SEQ ID NO:72; v. a replacement of nucleotides ATCTGA at position 2281-2286 of SEQ ID NO:72 with nucleotides TAGATTC; vi. a substitution of T with C at nucleotide 2596 of SEQ ID NO:72; and vii. a substitution of G with C at nucleotide 3238 of SEQ ID NO:72.