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Carrier detection in Hunter syndrome.
Am J Med Genet 1983; 16(1):61-9AJ

Abstract

We have studied the carrier state of the Hunter syndrome using a series of obligate carriers, females at high genetic risk, and normal control women. Specific odds of a female being a carrier of Hunter syndrome were based on serum levels of iduronate 2-sulphate sulphatase activity. These, together with the prior genetic odds, may be used in calculating the overall odds of a woman being a carrier. Iduronate 2-sulphate sulphatase levels were found to increase significantly with age. Obligate carriers from families of severe cases had significantly lower enzyme levels compared with those from families of mild cases. In contrast, enzyme levels in sera of mild and severe cases were not significantly different. With the accumulation of more data the effect of age of the potential carrier and the severity of the disease may have to be taken into consideration in the risk calculation. Hair-root analysis was more reliable in the detection of carriers than estimation of serum enzyme levels, but some individuals could not be classified with confidence by hair-root analysis alone. Carrier detection was most reliable when hair-root analysis and serum enzyme levels were taken together.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

6227239

Citation

Archer, I M., et al. "Carrier Detection in Hunter Syndrome." American Journal of Medical Genetics, vol. 16, no. 1, 1983, pp. 61-9.
Archer IM, Young ID, Rees DW, et al. Carrier detection in Hunter syndrome. Am J Med Genet. 1983;16(1):61-9.
Archer, I. M., Young, I. D., Rees, D. W., Oladimeji, A., Wusteman, F. S., & Harper, P. S. (1983). Carrier detection in Hunter syndrome. American Journal of Medical Genetics, 16(1), pp. 61-9.
Archer IM, et al. Carrier Detection in Hunter Syndrome. Am J Med Genet. 1983;16(1):61-9. PubMed PMID: 6227239.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Carrier detection in Hunter syndrome. AU - Archer,I M, AU - Young,I D, AU - Rees,D W, AU - Oladimeji,A, AU - Wusteman,F S, AU - Harper,P S, PY - 1983/9/1/pubmed PY - 1983/9/1/medline PY - 1983/9/1/entrez SP - 61 EP - 9 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 16 IS - 1 N2 - We have studied the carrier state of the Hunter syndrome using a series of obligate carriers, females at high genetic risk, and normal control women. Specific odds of a female being a carrier of Hunter syndrome were based on serum levels of iduronate 2-sulphate sulphatase activity. These, together with the prior genetic odds, may be used in calculating the overall odds of a woman being a carrier. Iduronate 2-sulphate sulphatase levels were found to increase significantly with age. Obligate carriers from families of severe cases had significantly lower enzyme levels compared with those from families of mild cases. In contrast, enzyme levels in sera of mild and severe cases were not significantly different. With the accumulation of more data the effect of age of the potential carrier and the severity of the disease may have to be taken into consideration in the risk calculation. Hair-root analysis was more reliable in the detection of carriers than estimation of serum enzyme levels, but some individuals could not be classified with confidence by hair-root analysis alone. Carrier detection was most reliable when hair-root analysis and serum enzyme levels were taken together. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/6227239/Carrier_detection_in_Hunter_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1983&volume=16&issue=1&spage=61 DB - PRIME DP - Unbound Medicine ER -