Molecular analysis of human monogenic diseases

✍ Scribed by K. E. Davies; K. J. H. Robson

• Publisher: John Wiley and Sons
• Year: 1987
• Tongue: English
• Weight: 940 KB
• Volume: 6
• Category: Article
• ISSN: 0265-9247
• DOI: 10.1002/bies.950060602

✦ Synopsis

Over one hundred genes have been isolated from the human genome and shown to be causally related to specific human genetic diseases. Studies with gene-specific probes have demonstrated that the mutations resulting in aparticular phenotype are highly heterogeneous as a group, ranging from alterations in transcription or RNA processing in the nucleus, through to errors in mRNA translation in the cytoplasm. Even where the gene-speciJic probe is not available, defects have been localized to chromosomal regions by family studies. Recently developed methods for moving along the chromosome from a linked marker to the mutation are resulting in rapid advances

in the understanding of many monogenic disorders.