发明名称 METHODS AND CHARACTERISTICS FOR THE DIAGNOSIS OF ACUTE LYMPHOBLASTIC LEUKEMIA
摘要 Methods for identification of leukemia or a genetic predisposition to leukemia are provided that are particularly applicable to acute lymphoblastic leukemia (ALL). A novel heterozygous germline variant, c.547G>A (p.Gly183Ser) in the octapeptide domain of PAX5, is used to identify those individuals with an enhanced risk or predisposition to ALL.
申请公布号 US2016138115(A1) 申请公布日期 2016.05.19
申请号 US201414900112 申请日期 2014.06.20
申请人 MEMORIAL SLOAN-KETTERING CANCER CENTER 发明人 OFFIT Kenneth;SHAH Sohela;JOSEPH Vajai;SCHRADER Kasmintan
分类号 C12Q1/68;C07K14/47;C07K16/18;G01N33/50 主分类号 C12Q1/68
代理机构 代理人
主权项 1. A method for identifying a human subject having an elevated risk of developing pre-B cell acute lymphoblastic leukemia (ALL), said method comprising: (a) amplifying a nucleic acid comprising a region of the PAX5 coding sequence of SEQ ID NO: 1 in a tissue sample from said human subject; i. wherein said amplifying uses a primer set comprising a forward primer and a reverse primer, wherein said forward primer binds to a complement of said PAX 5 coding sequence at a position 5′ to codon 183 defined by nucleotides 547-549 of SEQ ID NO: 1 and wherein said reverse primer binds to said PAX 5 coding sequence 3′ to said codon 183; andii. wherein said amplifying generates an amplicon comprising PAX 5 codon 183; and (b) determining in said amplicon the amino acid encoded by said codon 183; i. wherein if said codon 183 encodes an amino acid other than glycine, said human subject has an elevated risk of developing pre-B cell ALL.
地址 New York NY US