第2章 遗传图绘制.pptVIP

Polymorphic Information Content的计算 PIC的计算公式(由Bostein提出): PICi = 1-Σ Pij2 Where PICi is the polymorphic information content of a marker i; Pij is the frequency of the jth pattern for marker i and the summation extends over n patterns (累加) 例子1 PICi = 1-Σ Pij2 Marker a has two alleles, first allele has a frequency of 50%, the second allele has a frequency of 50% PICa = 1- (0.52 + 0.52) = 1- (0.25 + 0.25) = 0.5 例子2 PICi = 1-Σ Pij2 Marker b has two alleles, first allele has a frequency of 90%, the second allele has a frequency of 10% PICb = 1- (0.92 + 0.12) = 1- (0.81 + 0.01) = 0.18 例子3 PICi = 1-Σ Pij2 Marker A has two alleles, first allele has a frequency of 30%, the second allele has a frequency of 70% PICc = 1- (0.32 + 0.72) = 1- (0.09 + 0.49) = 0.42 例子4 PICi = 1-Σ Pij2 Marker D has 10 alleles, each allele has a frequency of 10% PICd = 1- [10 x 0.12] = 1- 0.1 = 0.9 人类不同群体中存在的SNP 1. The haplotype patterns for 20independent globally diverse chromosomes defined by 147 common human chr 21 SNPs spanning 106 kb of genomic sequence. 2. Each row represents an SNP. Blue box = major, yellow = minor allele. Each column represents a single chromosome. 3. The 147 SNPs are divided into 18 blocks defined by black lines.The expanded box on the right is an SNP block of 26 SNPs over 4. 19kb of genomic DNA. The 4 Most common of 7 different Haplotypes include 80% of the chromosomes, and can be distinguished with 2 SNPs. Figure 2 of Patil et al 如何检测SNP SNP检测的实验手段 经典方法采用PCR-单链构象多态性（PCR-SSCP）分析、RFLP、dHPLC和HA等，必须通过凝胶电泳等进行分析. 高通量检测SNP 的技术方法，如MALDI-TOF、DNA Chip以及DNA测序、动态特异等位基因杂交（dynamic allele-specific hybridization). 多态性组成频率(PIC) 1)杂合性(heterozygosity) 在一个群体中等位基因位点杂合个体占总样本的比例,与等位形式多少有关. 2)多态性信息量(polymorphic information content, PIC) PIC用来表示群体中某一位点多态性的程度: a PIC value of less than 0.25 indicating low polymorphism, a v