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 |
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代理人 |
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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 |