公开(公告)号：KR1020080105586A

公开(公告)日：2008-12-04

申请号：KR1020070053354

申请日：2007-05-31

Applicant: 대한민국 (식품의약품안전처장)

Inventor： 진선경 ,  강태선 ,  노재숙 ,  이윤숙 ,  박현주 ,  이종은 ,  김주일 ,  최수영

IPC: C12Q1/68

CPC classification number: C12Q1/6827 ,  C12Q1/6844 ,  C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/172

Abstract: A haplotype analysis kit for the gene coding CYP2C19, and a method for analyzing the haplotype of the gene coding CYP2C19 by using the kit are provided to analyze the genetic polymorphism of CYP2C19 more easily. A haplotype analysis kit for the gene coding CYP2C19 comprises a primer for PCR amplification having a base sequence selected from the group consisting of the sequence numbers 1 to 44, and a primer for base sequence determination having a base sequence selected from the group consisting of the sequence numbers 45-88; can analyze SNP (single nucleotide polymorphism) having the genetic variation selected from -888T>G, -97T>C, P33P, IVS1-47G>A, IVS2+147A>G, W212X, P227P, IVS5-51C>G, V330V, IVS7-106T>C and G417G, in the CYP2C19 of a cytochrome P450-based enzyme or the gene which codes the CYP2C19 and has a base sequence represented by the sequence number 89; and can analyze the haplotype group selected from H1 to H14 specified in the table of the gene coding CYP2C19 having a base sequence represented by the sequence number 89.

Abstract translation: 提供了一种编码CYP2C19基因的单体型分析试剂盒，通过使用该试剂盒分析编码CYP2C19基因的单倍型的方法，更容易分析CYP2C19的遗传多态性。 用于编码CYP2C19的基因的单元型分析试剂盒包括用于PCR扩增的引物，其具有选自序列号1至44的碱基序列，和用于碱基序列测定的引物，其具有选自以下的碱基序列： 序列号45-88; 可以分析具有遗传变异选自-888T> G，-97T> C，P33P，IVS1-47G> A，IVS2 + 147A> G，W212X，P227P，IVS5-51C> G，V330V的SNP（单核苷酸多态性） IVS7-106T> C和G417G，在基于细胞色素P450的酶的CYP2C19中或编码CYP2C19并具有由序列号89表示的碱基序列的基因; 并且可以分析选自具有由序列号89表示的碱基序列的编码CYP2C19的基因的表中指定的H1至H14的单倍型组。

公开(公告)号：KR1020110131630A

公开(公告)日：2011-12-07

申请号：KR1020100051165

申请日：2010-05-31

Applicant: 대한민국 (식품의약품안전처장)

Inventor： 김승희 ,  한순영 ,  정면우 ,  나한성 ,  신희정 ,  박현주 ,  강태선

IPC: C12Q1/68 ,  C12N15/12

CPC classification number: C12Q1/6865 ,  C12Q2600/156 ,  C12Q2600/172

Abstract: PURPOSE: A haplotype analysis kit of NAT2 gene promoter and an analysis method using the same are provided to analyze genetic polymorphism of NAT2 and to develop a drug. CONSTITUTION: A method for analyzing haplotype of human NAT2 gene comprises: a step of performing PCR of genome DNA of a test person using a primer set for amplifying the human NAT2 gene promoter or fragment of the fragment; a step of analyzing base sequence of DNA product prepared by PCR; a step of determining SNP presence of -10818 T>C(2942th base of sequence number 8), -10065 A>G(3695th base of sequence number 8), -9905 T>C(3855th base of sequence number 8), -9601 A>G(4159th base of sequence number 8), -9246 G>C(4514th base of sequence number 8), or -8853 A>G(4907th base of sequence number 8).

Abstract translation: 目的：提供NAT2基因启动子的单倍型分析试剂盒及其分析方法，分析NAT2的遗传多态性，开发药物。 构成：用于分析人类NAT2基因单倍型的方法包括：使用引物组进行测试人基因组DNA的PCR扩增步骤，以扩增人类NAT2基因启动子或片段片段; 分析通过PCR制备的DNA产物碱基序列的步骤; 确定天然存在的步骤（序列号8的第2942个碱基），-10065A> G（序列号8的第3695位），-9905T> C（序列号8的第3855位）的SNP存在的步骤， （序列号815的第4159位），-9246G> C（序列号845的第45​​14位）或-8853A> G（序列号890的第497位）。

公开(公告)号：KR1020100060153A

公开(公告)日：2010-06-07

申请号：KR1020080118623

申请日：2008-11-27

Applicant: 대한민국 (식품의약품안전처장)

Inventor： 강태선 ,  우선욱 ,  박현주 ,  이윤숙 ,  민홍기

IPC: C12Q1/68

CPC classification number: C12Q1/6827 ,  C12Q2600/156 ,  C12Q2600/172

Abstract: PURPOSE: A method for analyzing the haplotype of CYP1A2 is provided to analyze genetic SNP of CYP1A2 and to develop a drug related to CYP1A2. CONSTITUTION: A method for analyzing the haplotype of CYP1A2 comprises: a step of obtaining a promoter, intron 4, intron 6, and exon 7 of a gene encoding CYP1A2 from a genome DNA; a step of detecting the presence of SNP(single nucleotide polymorphism); and a step of identifying the detected SNP to a haplotype selected from H1-H11.

Abstract translation: 目的：提供CYP1A2单倍型分析方法，分析CYP1A2基因SNP，开发CYP1A2相关药物。 构成：用于分析CYP1A2的单倍型的方法包括：从基因组DNA获得编码CYP1A2的基因的启动子，内含子4，内含子6和外显子7的步骤; 检测SNP（单核苷酸多态性）的存在的步骤; 以及将检测到的SNP鉴定为选自H1-H11的单倍型。

公开(公告)号：KR1020100060150A

公开(公告)日：2010-06-07

申请号：KR1020080118616

申请日：2008-11-27

Applicant: 대한민국 (식품의약품안전처장)

Inventor： 강태선 ,  우선욱 ,  박현주 ,  이윤숙 ,  민홍기

IPC: C12Q1/68

CPC classification number: C12Q1/6827 ,  C12Q2600/156 ,  C12Q2600/172

Abstract: PURPOSE: A method for analyzing the haplotype of a gene encoding CYP2E1 is provided to analyze SNP(single nucleotide polymorphism) and to develop drugs. CONSTITUTION: A method for analyzing CYP2E1 haplotype comprises: a step of obtaining a promoter, intron 5, intron 6, and exon 7 of a gene encoding CYP2E1 and determining nucleotide sequence thereof; a step of detecting presence of SNP; and a step of identifying the detected SNP. The SNP comprises a mutant in which promoter -1295 locus base G is replaced with base C, a mutant in which promoter -333 locus base T is replaced with base A, and a mutant a codon encoding phenylalanine base C is mutated with base T.

Abstract translation: 目的：提供一种分析编码CYP2E1基因单倍型的方法，分析SNP（单核苷酸多态性）和开发药物。 构成：分析CYP2E1单元型的方法，包括：获得编码CYP2E1的基因的启动子，内含子5，内含子6和外显子7的步骤，并确定其核苷酸序列; 检测SNP存在的步骤; 以及识别检测到的SNP的步骤。 SNP包括其中启动子-1295基因座G被碱基C替代的突变体，其中启动子-333基因座T被碱基A替代的突变体，并且编码苯丙氨酸碱基C的突变体编码苯丙氨酸碱基C用碱T突变