DNA测序仪原理及应用

SNP关联分析

Single Nucleotide Polymorphism (SNP)单核苷酸多态性：

碱基插入、缺失、突变等原因造成

Primer Extension Technology:

The Genotyping Gold Standard

Anneal:

Simple Primer Extension

functionExtend:Accurate “lock and key”enzyme

DetectDetect:

Fluorescence

Primer Extension Technology

ATSNP 1ATSNP 2CGSNP 3

TATAAC/A

T

12

3

SNP检测策略

Allele 1:Allele 2:

===GTAGGGGGACAGATAAAGAAGC======GTAGGAGGACAGATAAAGAAGC===

Person 2Allele 2+Allele 2

Person 3Allele 1+Allele 2HeterozygotePerson 1Allele 1+Allele 1

Homozygote