Previously unreported NcoI RFLP for human CSF1R

NcoI RFLP in the pseudogene (CYP2D8P) of the human debrisoquine 4-hydroxylase locus.

A high frequency NcoI RFLP detected in the Alzheimer amyloid peptide gene.

SOURCE/DESCRIPTION: Probe pAHB2.3 contains a 778bp oDNA fragment enooding the amyloid polypeptlde of Alzheimer disease and Down Syndrome (beta protein) inserted into pDCiS (1). The probe was sublooallzed to chromosome 21q21 (2). POLYMORPHISM: Nool identifies a two allele polymorphism of a band at either 15kb or 8.5 kb.

Radiation hybrid mapping of 63 previously unreported equine microsatellite loci.

Source/description: Horse genomic DNA was digested with the restriction enzyme MboI, size selected by gel electrophoresis for fragments between 200 and 1200 bp, and ligated into the BamHI site of the M13 phage vector. Clones containing a potential microsatellite were identified by screening the library with [P] 5¢ end-labelled oligo [dCA]16 and oligo [dGT]16 probes. The DNA was isolated from po...

Thalamic hyperdensity: a previously unreported sign of Sandhoff disease.

The patient was born at term after an uncomplicated pregnancy, labor, and delivery. The neonatal course was complicated only by mild hyperbilirubinemia, which was treated with phototherapy. When the baby was 6 months old , the mother sought medical attention because the infant was unable to sit unassisted. ACT scan performed at that time was normal. A second evaluation when the baby was 1 year ...

Xanthine oxidase deficiency: studies of a previously unreported case.

Xanthinuria is a familial disorder of purine metabolism that results from a marked deficiency of xanthine oxidase (EC 1.2.3.2) activity. We report here the clinical and biochemical features of a new case of xanthinuria. Serum urate concentration was 0.8 mg/i 00 ml, urinary uric acid excretion was 16 mg per day, urinary oxypurme excretion was 1630 mol per day, and total purine excretion was 314 ...