P.J. Scambler

TL;DR: Four polymorphic markers that map within 80 kb of an HTF island which is genetically very close to the cystic fibrosis locus have been identified and strong linkage disequilibrium between three polymorphic sites and cysts fibrosis was observed.

TL;DR: An expressed gene sequence which was identified by the isolation of a methylation free CpG island from human chromosome 7 has been cloned from a human lung cDNA library and shows marked similarity with human and murine int‐1 and their Drosophila homolog wingless (Dint‐1).

TL;DR: The DNA probes met and pJ3.11 are derived from loci on chromosome seven that are closely linked to, and probably flanking, the gene mutation causing cystic fibrosis (CF), and may prove useful in confirming the order of loci around CF and in the prenatal diagnosis of this common autosomal recessive disease.

TL;DR: Recombinations in two families suggest that CF is between the MspI polymorphic site recognized by pMP6d-9 and the polymorphism recognizing by pJ3.11, which is the closest, to date, to CF and will be useful for prenatal diagnosis and carrier testing.

TL;DR: DNA markers that map to 22q11-pter are analyzed and 27 that are deleted in DiGeorge syndrome patients with known monosomy for part of this region and that are duplicated in patients with the der22 syndrome are found.