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Carrier detection in Sanfilippo syndrome type B: report of six families.

Publication ,  Journal Article
Vance, JM; Conneally, PM; Wappner, RS; Yu, PL; Brandt, IK; Pericak-Vance, MA
Published in: Clin Genet
August 1981

Serum samples from 175 individuals in six Sanfilippo syndrome type B (SFB) families and 360 White controls were assayed for serum alpha-N-acetyl-D-glucosaminidase (NAG) activity. Only minimal overlap was observed between the controls' NAG activity distribution and that of the 12 obligate heterozygotes. The distribution of NAG activity was log transformed to reduce skewness, and segregation of family members with a prior risk of being a SFB carrier was well within expected limits. However, in one consanguineous family the NAG activity of both parents of one SFB obligate heterozygote was within the normal range for NAG activity. Plausible explanations for this finding are discussed. Additionally, the serum NAG activity of one control and her mother were found to lie within one standard deviation of the obligate heterozygote mean. These individuals are most probably carriers for SFB.

Duke Scholars

Published In

Clin Genet

DOI

ISSN

0009-9163

Publication Date

August 1981

Volume

20

Issue

2

Start / End Page

135 / 140

Location

Denmark

Related Subject Headings

  • Pedigree
  • Mucopolysaccharidosis III
  • Mucopolysaccharidoses
  • Male
  • Humans
  • Genetics & Heredity
  • Genetic Carrier Screening
  • Female
  • Acetylglucosaminidase
  • 3202 Clinical sciences
 

Citation

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ICMJE
MLA
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Vance, J. M., Conneally, P. M., Wappner, R. S., Yu, P. L., Brandt, I. K., & Pericak-Vance, M. A. (1981). Carrier detection in Sanfilippo syndrome type B: report of six families. Clin Genet, 20(2), 135–140. https://doi.org/10.1111/j.1399-0004.1981.tb01818.x
Vance, J. M., P. M. Conneally, R. S. Wappner, P. L. Yu, I. K. Brandt, and M. A. Pericak-Vance. “Carrier detection in Sanfilippo syndrome type B: report of six families.Clin Genet 20, no. 2 (August 1981): 135–40. https://doi.org/10.1111/j.1399-0004.1981.tb01818.x.
Vance JM, Conneally PM, Wappner RS, Yu PL, Brandt IK, Pericak-Vance MA. Carrier detection in Sanfilippo syndrome type B: report of six families. Clin Genet. 1981 Aug;20(2):135–40.
Vance, J. M., et al. “Carrier detection in Sanfilippo syndrome type B: report of six families.Clin Genet, vol. 20, no. 2, Aug. 1981, pp. 135–40. Pubmed, doi:10.1111/j.1399-0004.1981.tb01818.x.
Vance JM, Conneally PM, Wappner RS, Yu PL, Brandt IK, Pericak-Vance MA. Carrier detection in Sanfilippo syndrome type B: report of six families. Clin Genet. 1981 Aug;20(2):135–140.
Journal cover image

Published In

Clin Genet

DOI

ISSN

0009-9163

Publication Date

August 1981

Volume

20

Issue

2

Start / End Page

135 / 140

Location

Denmark

Related Subject Headings

  • Pedigree
  • Mucopolysaccharidosis III
  • Mucopolysaccharidoses
  • Male
  • Humans
  • Genetics & Heredity
  • Genetic Carrier Screening
  • Female
  • Acetylglucosaminidase
  • 3202 Clinical sciences