Medical Genetics(1 of 2)

This week: Mendelian diseases – from gene to therapy

Next week: How and why do Mendelian disease alleles arise?

Restriction fragment length polymorphism (RFLP)

Linkage analysis

“The estimated distance of 15 cM means that about 15 million base pairs lie betweenthe D0CRI-917 and CF loci. This distance precludes the ‘chromosome walking’ strategyto identify the CF gene. Nevertheless, the resolution of the CF gene location to less than1 percent of the human genome followed by chromosomal localization will facilitate thesubsequent isolation and characterization of the gene the causes cystic fibrosis.”

monogenic vs. monoallelic