发明名称 METHODS OF PREDICTING PREDISPOSITION TO OR RISK OF KIDNEY DISEASE
摘要 Disclosed are methods for detecting a genetic predisposition to focal segmental glomerulosclerosis (FSGS) or hypertensive end-stage kidney disease (ESKD) or both in a human subject. The methods include detecting the presence of at least one single nucleotide polymorphism (SNP) in an APOL1 gene, such as the C- terminal exon of an APOL1 gene. Disclosed methods also include detecting resistance of a subject to a disease associated with Trypanosoma infection and method of treating a subject infected with T. brucei (such as T. brucei brucei, T h. rhodesiense, or T h. gambiense) by administering a therapeutically effective amount of an APOL1 protein including a S342G substitution, an I384M substitution, and/or a deletion of N388 and Y389 to the subject.
申请公布号 WO2011133474(A3) 申请公布日期 2014.04.03
申请号 WO2011US32924 申请日期 2011.04.18
申请人 BETH ISRAEL DEACONESS MEDICAL CENTER;GENOVESE, GIULIO;FRIEDMAN, DAVID, J.;POLLAK, MARTIN, R. 发明人 GENOVESE, GIULIO;FRIEDMAN, DAVID, J.;POLLAK, MARTIN, R.
分类号 C12Q1/68;A61K38/00;C07K1/00 主分类号 C12Q1/68
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