Title: Contiguous Gene Syndromes as Multiple Anomalies Syndromes: Molecular Basis and Approach to Gene Cloning
Abstract:Abstract Recent knowledge on molecular basis of several contiguous gene syndromes as multiple anomalies syndromes, such as Prader‐Willi syndrome (PWS), Angelman syndrome (AS), Beckwith‐Wiedemann syndr...Abstract Recent knowledge on molecular basis of several contiguous gene syndromes as multiple anomalies syndromes, such as Prader‐Willi syndrome (PWS), Angelman syndrome (AS), Beckwith‐Wiedemann syndrome (BWS), tricho‐rhino‐phalageal syndrome types I (TRPS I) and II (TRPS II or LGS), and complex glycerol kinase deficiency (CGKD), are reviewed. Based on the results of DNA deletion studies and on the evidence for the genomic imprinting mechanism of both PWS and AS, a model for the occurrence of the two syndromes is proposed. Also, a strategy of the microdissection/microcloning technique as a reverse genetics technique, i. e., direct cloning of chromosomal DNAs from a defined region of human chromosome, particularly for the cloning of the exostosis gene in TRPS, is presented.Read More