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Carrier detection of deletions of the Hunter gene by in situ hybridization

Carrier detection of deletions of the Hunter gene by in situ hybridization Summary Deficiency of the lysosomal enzyme α‐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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annals of Human Genetics Wiley

Carrier detection of deletions of the Hunter gene by in situ hybridization

Annals of Human Genetics , Volume 56 (2) – May 1, 1992

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References (20)

Publisher
Wiley
Copyright
Copyright © 1992 Wiley Subscription Services, Inc., A Wiley Company
ISSN
0003-4800
eISSN
1469-1809
DOI
10.1111/j.1469-1809.1992.tb01135.x
Publisher site
See Article on Publisher Site

Abstract

Summary Deficiency of the lysosomal enzyme α‐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.

Journal

Annals of Human GeneticsWiley

Published: May 1, 1992

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