Genetic Linkage Analysis in Human Disease

摘要: Linkage analysis is a powerful tool for identifying and characterizing the genetic basis human disease. Most successes have been in localization of diseases whose inheritance known to follow simple patterns Mendelian like X-linked hypophosphatemic rickets, neurofibromatosis, Duchenne muscular dystrophy. For these diseases, linkage follows standard approach — chromosomal location disease gene, determining minimum candidate interval by identification critical recombination events, systematically narrowing as small region possible typing additional markers individuals. This well established: if enough informative meioses are available, diagnosis correctly assigned power available pedigree material sufficient, locus will be mapped.