Carrier detection of deletions of the Hunter gene by in situ hybridization.
Deficiency of the lysosomal enzyme alpha-iduronate sulphate sulphatase (IDS) causes the clinical manifestations of Hunter syndrome, an X-linked condition. In about 30% of male patients, the disease is due to a major deletion. Using a non-isotopic in situ hybridization (NISH) method, and a yeast artificial chromosome (YAC) probe, the Hunter gene was mapped to the terminal region of the human X chromosome, close to the Xq28 band. The NISH procedure was then applied to investigate the carrier status of female relatives of a Hunter patient known to have a deletion of the IDS gene. Unequivocal evidence that two female relatives were carriers of the deletion was obtained, demonstrating that the NISH method is a valuable diagnostic tool in genetic counselling of families with Hunter patients.
Stone
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S
Division of Medical & Molecular Genetics, United Medical School, Guy's Hospital, London.
Adinolfi
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M
D002872:Chromosome Deletion; D002874:Chromosome Mapping; D015825:Chromosomes, Fungal; D005260:Female; D006580:Genetic Carrier Screening; D015894:Genome, Human; D015698:Genomic Library; D006801:Humans; D008297:Male; D016532:Mucopolysaccharidosis II / Q000175:diagnosis* / Q000235:genetics; D009693:Nucleic Acid Hybridization; D014960:X Chromosome