Advances in molecular genetics have led to the development of clinical assays for several
genetic diseases. Two general testing approaches are available: direct detection of the …

Three polymorphic DNA markers surrounding the D7S8 locus were tested for their
usefulness in the diagnosis of cystic fibrosis (CF) by linkage analysis. The markers …

Autosomal dominant polycystic kidney disease (ADPKD) is one of the commonest genetic
diseases of man. It is estimated that approximately one per 1000 of the US population …

This paper describes an approach that can be used to identify specifically expressed coding
sequences in defined regions of genomic DNA. We developed this method to identify …

A total of 295 patients, parents and unaffected sibs from 106 CF‐families in central and
northeastern Switzerland were investigated with probes 7C22 (D7S16), metH, metD …

Discovery of the chromosomal location of a gene that harbors a mutation responsible for a
disease of unknown biochemical origin is the first step toward identification and …

Hypervariable minisatellite loci provide highly informative genetic markers in mammalian
genomes. Hybridisation probes based on a G-rich core sequence simultaneously detect …

To bridge the gap in molecular biology technology of crossing large distances of
chromosomal DNA, the technique of chromosome jumping was developed and applied to a …

Despite the recent rapid advances in isolation of the abnormal gene responsible for cystic
fibrosis, there remains the need to explain the mechanism by which a single gene mutation …

The recent development of theoretical and clinical medicine is characterized by increasing
attention to the hereditary disorders. Modern trends in the changing of the morbidity structure …