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Genetic Molecular Techiniques - Part V - RNAi, Human Disease

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DNA Polymorphisms - variations in DNA sequence<br />

RFLPs - restriction fragment length polymorphisms<br />

SNPs - single nucleotide polymorphisms<br />

SSRs - simple sequence repeats or microsatellites<br />

Pedigree based on RFLP analysis<br />

Fig. 9-46b<br />

Experimental Detection of RFLPs<br />

WT<br />

M<br />

Fig. 9-46a<br />

How do you find the disease causing gene (cont.)?<br />

1. Comparison of gene expression from genomic region<br />

a. Northern blotting<br />

b. in situs<br />

2. Sequence candidate genes from region<br />

Example: Sickle Cell Anemia<br />

Chromosome 11<br />

collagen<br />

ribosome<br />

hemoglobin<br />

iron transporter<br />

LOC139168

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