公开(公告)号：US10927414B2

公开(公告)日：2021-02-23

申请号：US16449585

申请日：2019-06-24

申请人： Technion Research & Development Foundation Limited ,  Ramot at Tel-Aviv University Ltd. ,  Walter Gabriel Wasser ,  Rambam Med-Tech Ltd.

发明人： Karl Skorecki ,  Shay Tzur ,  Saharon Rosset ,  Walter Gabriel Wasser ,  Doron M. Behar ,  Revital Shemer

IPC分类号： C12Q1/6883 ,  C12Q1/70 ,  G01N33/68

摘要： Provided are methods and kits for determining predisposition of a subject to develop a kidney disease, by identifying in a sample of the subject at least one APOL1 polypeptide variant which is characterized by a higher trypanolytic activity on Trypanosoma brucei rhodesiense as compared to the trypanolytic activity of wild type APOL1 polypeptide as set forth in SEQ ID NO:1 on the Trypanosoma brucei rhodesiense under identical assay conditions; or at least one APOL1 nucleotide mutation in the APLO1 genomic sequence set forth in SEQ ID NO:3, wherein the at least one nucleotide mutation or polypeptide variant being in linkage disequilibrium (LD) with the S342G mutation in the APOL1 polypeptide set forth in SEQ ID NO:1, wherein presence of the APOL1 polypeptide variant indicates increased predisposition of the subject to develop the kidney disease.

公开(公告)号：US10351911B2

公开(公告)日：2019-07-16

申请号：US15136929

申请日：2016-04-24

申请人： Technion Research & Development Foundation Limited ,  Ramot at Tel-Aviv University Ltd. ,  Walter Gabriel Wasser ,  Rambam Med-Tech Ltd.

发明人： Karl Skorecki ,  Shay Tzur ,  Saharon Rosset ,  Walter Gabriel Wasser ,  Doron M. Behar ,  Revital Shemer

IPC分类号： C12Q1/70 ,  G01N33/68 ,  C12Q1/6883

摘要： Provided are methods and kits for determining predisposition of a subject to develop a kidney disease, by identifying in a sample of the subject at least one APOL1 polypeptide variant which is characterized by a higher trypanolytic activity on Trypanosoma brucei rhodesiense as compared to the trypanolytic activity of wild type APOL1 polypeptide as set forth in SEQ ID NO:1 on the Trypanosoma brucei rhodesiense under identical assay conditions; or at least one APOL1 nucleotide mutation in the APLO1 genomic sequence set forth in SEQ ID NO:3, wherein the at least one nucleotide mutation or polypeptide variant being in linkage disequlibrium (LD) with the S342G mutation in the APOL1 polypeptide set forth in SEQ ID NO:1, wherein presence of the APOL1 polypeptide variant indicates increased predisposition of the subject to develop the kidney disease.

公开(公告)号：US20120003644A1

公开(公告)日：2012-01-05

申请号：US13153569

申请日：2011-06-06

申请人： Karl Skorecki ,  Shay Tzur ,  Saharon Rosset ,  Walter Gabriel Wasser ,  Doron M. Behar ,  Revital Shemer

发明人： Karl Skorecki ,  Shay Tzur ,  Saharon Rosset ,  Walter Gabriel Wasser ,  Doron M. Behar ,  Revital Shemer

IPC分类号： C12Q1/68 ,  G01N33/566 ,  C07H21/00 ,  C07K16/18

CPC分类号： C12Q1/6883 ,  C12Q1/703 ,  C12Q2600/106 ,  C12Q2600/156 ,  C12Q2600/172 ,  G01N33/6893 ,  G01N2333/775 ,  G01N2800/50

摘要： Provided are methods and kits for determining predisposition of a subject to develop a kidney disease, by identifying in a sample of the subject at least one APOL1 polypeptide variant which is characterized by a higher trypanolytic activity on Trypanosoma brucei rhodesiense as compared to the trypanolytic activity of wild type APOL1 polypeptide as set forth in SEQ ID NO:1 on the Trypanosoma brucei rhodesiense under identical assay conditions; or at least one APOL1 nucleotide mutation in the APLO1 genomic sequence set forth in SEQ ID NO:3, wherein the at least one nucleotide mutation or polypeptide variant being in linkage disequlibrium (LD) with the S342G mutation in the APOL1 polypeptide set forth in SEQ ID NO:1, wherein presence of the APOL1 polypeptide variant indicates increased predisposition of the subject to develop the kidney disease.

摘要翻译： 提供了用于确定受试者的易感性以发展肾脏疾病的方法和试剂盒，通过在受试者样品中鉴定至少一种APOL1多肽变体，其特征在于与锥虫属罗非鱼相比具有更高的锥虫解活性， 野生型APOL1多肽，如同样的测定条件下的罗丹明锥虫在SEQ ID NO：1中所示; 或在SEQ ID NO：3中列出的APLO1基因组序列中的至少一个APOL1核苷酸突变，其中所述至少一个核苷酸突变或多肽变体与APOL1多肽中所示的S342G突变处于连锁不平衡（LD） ID NO：1，其中APOL1多肽变体的存在表明受试者发生肾脏疾病的易感性增加。