Toward the complete genomic map and molecular pathology of human chromosome 4.

摘要: The identification of disease genes via molecular DNA cloning has revolutionized human genetics and medicine. Both the candidate gene approach positional have been used successfully. defects causing Huntington's disease, facioscapulohumeral muscular dystrophy, piebaldism, Hurler/Scheie syndrome, one form autosomal recessive retinitis pigmentosa, a second locus for dominant polycystic kidney recently localized to chromosome 4. In addition rapid progress in 203-megabase chromosome, presence more than 60 closely spaced microsatellites on this will undoubtedly lead localization additional genes. order consider cloned as potential candidates disorders assigned 4, it is important collect all with respect their chromosomal localization. Analysis cytogenetically visible interstitial terminal deletions should also be helpful defining new loci mapping novel These data represent status quo integrated map