公开(公告)号：KR100526702B1

公开(公告)日：2005-11-08

申请号：KR1020030056411

申请日：2003-08-14

Applicant: 학교법인연세대학교

Inventor： 김경환 ,  이민구 ,  이지현

IPC: C12N15/12

Abstract: 본 발명은 서열번호 1의 염기서열을 가지는 CFTR 유전자에 있어서, 782번째 G 염기를 포함하는 핵산분자, 1540번째 G 염기를 포함하는 핵산분자 및 4188번째 C 염기를 포함하는 핵산분자에 관한 것이다. 또한, 본 발명은 상기 핵산분자 중 적어도 하나 이상을 포함하는 것을 특징으로 하는 만성 호흡기 및 췌장 질환 진단용 키트에 관한 것이다.

公开(公告)号：KR1020050018500A

公开(公告)日：2005-02-23

申请号：KR1020030056411

申请日：2003-08-14

Applicant: 학교법인연세대학교

Inventor： 김경환 ,  이민구 ,  이지현

IPC: C12N15/12

CPC classification number: C12Q1/6827 ,  C12Q2600/156

Abstract: PURPOSE: A kit for diagnosis of chronic respiratory and pancreatic diseases associated with CFTR variants in east Asian is provided, which CFTR(cystic fibrosis transmembrane conductance regulator) variants that are frequently occurred in east Asian are identified, so that the accuracy of the diagnosis can be improved. CONSTITUTION: The kit for diagnosis of chronic respiratory and pancreatic diseases associated with CFTR variants in east Asian comprises: at least one nucleic acid molecule selected from a nucleic acid molecule having the nucleotide sequence of SEQ ID NO:7 which comprises 782th nucleotide G in the CFTR gene having the nucleotide sequence of SEQ ID NO:1, and consists of 20 to 100 consecutive DNAs comprising the 782th nucleotide G; a nucleic acid molecule having the nucleotide sequence of SEQ ID NO:8 which comprises 1540th nucleotide G in the CFTR gene having the nucleotide sequence of SEQ ID NO:1, and consists of 20 to 100 consecutive DNAs comprising the 1540th nucleotide G; and a nucleic acid molecule having the nucleotide sequence of SEQ ID NO:9 which comprises 4188th nucleotide C in the CFTR gene having the nucleotide sequence of SEQ ID NO:1, and consists of 20 to 100 consecutive DNAs comprising the 4188th nucleotide C.

Abstract translation: 目的：提供一种用于诊断与东亚CFTR变异相关的慢性呼吸道和胰腺疾病的试剂盒，其中鉴定出在东亚经常发生的CFTR（囊性纤维化跨膜传导调节因子）变体，从而诊断的准确性可以 要改进 构成：用于诊断与东亚CFTR变体相关的慢性呼吸道和胰腺疾病的试剂盒包括：选自具有SEQ ID NO：7的核苷酸序列的核酸分子中的至少一种核酸分子，其包含第782位核苷酸G 具有SEQ ID NO：1的核苷酸序列的CFTR基因，由包含第782位核苷酸G的20至100个连续DNA组成; 具有SEQ ID NO：8的核苷酸序列的核酸分子，其包含具有SEQ ID NO：1的核苷酸序列的CFTR基因中的第1540位核苷酸G，并且由包含第1540位核苷酸G的20至100个连续DNA组成; 和具有SEQ ID NO：9的核苷酸序列的核酸分子，其包含具有SEQ ID NO：1的核苷酸序列的CFTR基因中的第4188位核苷酸C，并且由包含第4188位核苷酸C的20至100个连续的DNA组成。