Biomedical subjects

N Hidaka

Publications and source records attributed to N Hidaka.

At least 37 records · Page 2Linked to original sources

PubMed1991

Two frameshift mutations in the cystic fibrosis gene.

Cystic fibrosis (CF) is a recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. We have identified in exon 7 two frameshift mutations, one caused by a two-nucleotide insertion and the other caused by a one-nucleotide deletion; these mutations--CF1154insTC and CF1213delT, respectively, are predicted to shift the reading frame of the protein and to introduce UAA(ochre) termination codons at residues 369 and 368.

Adolescent↗

PubMed1990

Approaches to localizing disease genes as applied to cystic fibrosis.

Using chromosome jumping and walking and restriction fragment length polymorphism (RFLP) analysis, we have defined the region which must contain the cystic fibrosis gene. DNA segments spanning approximately 250 kb in the direction of the gene were isolated and used to identify several new polymorphisms informative in cystic fibrosis families. These RFLPs include a highly polymorphic, CA/GT repeat, and a 10 bp insertion uncovered using the polymerase chain reaction. By analyzing a family with a recombination near the gene, we can exclude this region as containing the mutation. Data on the extent of linkage disequilibrium of these markers provides additional information on where the gene is located.

Base Sequence↗

PubMed1989

Identification of the cystic fibrosis gene: chromosome walking and jumping.

An understanding of the basic defect in the inherited disorder cystic fibrosis requires cloning of the cystic fibrosis gene and definition of its protein product. In the absence of direct functional information, chromosomal map position is a guide for locating the gene. Chromosome walking and jumping and complementary DNA hybridization were used to isolate DNA sequences, encompassing more than 500,000 base pairs, from the cystic fibrosis region on the long arm of human chromosome 7. Several transcribed sequences and conserved segments were identified in this cloned region. One of these corresponds to the cystic fibrosis gene and spans approximately 250,000 base pairs of genomic DNA.

Animals↗

PubMed1989

Isolation of additional polymorphic clones from the cystic fibrosis region, using chromosome jumping from D7S8.

The cystic fibrosis (CF) locus has been located, by both linkage analysis and physical mapping, to a 900-kb region of 7q22-31 flanked by D7S8 (J3.11) and D7S23 (XV-2c). Using a 100-kb general jumping library, we isolated two sequential jump clones, J31 and J29, to one side of the D7S8 region and one jump clone, J32, to the other side of D7S8, so that the total region covered is about 300 kb. Three new RFLPs were detected by J29 and J32. Using PFGE mapping and the three jump clones, we found it possible to orient D7S8 on the chromosome and, by linkage analysis, to further narrow the CF region by 100 kb. The orientation of D7S8 will be useful for directing the isolation of other jump clones toward the CF locus. Though the newly described RFLPs are in considerable linkage disequilibrium with D7S8 polymorphisms, they increase the informativeness of genetic markers in the D7S8 region and should be useful in prenatal diagnosis.

Chromosomes, Human, Pair 7↗

PubMed1987

A case of hypothalamic sarcoidosis with hypopituitarism and prolonged remission of hypogonadism.

A 21-year-old man developed hypopituitarism, with symptomatic hypogonadism and diabetes insipidus (DI), as well as uveitis, retinal vasculitis, and papilledema in association with systemic sarcoidosis. A suprasellar tumor was demonstrated by computed tomography (CT). Although ophthalmic symptoms disappeared with prednisone and the DI was controlled with Desmopressin (DDAVP), the hypogonadism did not improve with human menopausal gonadotropin (HMG) and human chorionic gonadotropin (HCG). In long-term follow-up, the hypogonadism unexpectedly resolved.

Adult↗

PubMed1985