Disruption of the hypoxanthine-guanine phosphoribosyl-transferase gene caused by a translocation in a patient with Lesch-Nyhan syndrome.

In this study, we have identified a novel mechanism of mutation involving translocation between the HPRT1 loci and other loci on the X chromosome. In HRT-25's cDNA obtained from a patient with Lesch-Nyhan syndrome, the upstream region of exon 3 was amplified, but the full-length region was not amplified. The use of 3' rapid amplification of cDNA ends polymerase chain reaction (3'RACE-PCR) for HRT-25 revealed part of intron 3 and an unknown sequence which have not identified the HPRT1 gene starting at the 3' end of exon 3.

Performance of throughout in-capillary derivatization capillary electrophoresis employing an on-line sample and run buffer loading device.

We report on the effect on performance of varying the length of the capillary during throughout in-capillary derivatization (TICD) capillary electrophoresis (CE). Performance was evaluated by on-line coupling with a sample and CE runbuffer loading device that was newly introduced for this study. The device was assembled with a low cost using two 5 mm inner diameter (ID) disposable polyethylene syringes.

Drug targets in Menkes disease - prospective developments.

Menkes disease (MNK) is an X-linked recessive disorder characterised by a copper-transporting ATPase defect. In the affected cells, copper transport from the cytosol to the Golgi apparatus is disturbed, resulting in a reduction of copper efflux. Orally-administered copper, which accumulates in the intestine, cannot be absorbed and thus a copper deficiency arises.

Selective detection of biogenic amines using capillary electrochromatography with an on-column derivatization technique.

A selective detection method for biogenic amines present in highly complex matrixes was devised by employing both electrokinetic injection and on-column-derivatization capillary electrochromatographic methods. The on-column derivatization capillary electrochromatography system was evaluated by use of a capillary column (total length of 45 cm, effective length of 25 cm) fabricated using a 100-mcirom (i.d.