Literature DB >> 6424473

Heterozygote detection in Hunter syndrome.

J Zlotogora, G Bach.   

Abstract

Iduronate sulfate sulfatase activity was determined in 36 women, relatives of Hunter syndrome patients. The use of serum and lymphocyte extracts for the determination of enzyme levels enabled the detection of 13 out of 15 (86%) obligate heterozygotes and identification of 10 of 21 other relatives as carriers. These methods are relatively simple and can easily be applied for routine examinations of all women at risk of being a Hunter heterozygote. These results permit for the first time meaningful genetic counseling for the families of Hunter patients.

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Year:  1984        PMID： 6424473     DOI： 10.1002/ajmg.1320170317

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  10 in total

1.  Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe.

Authors:  A Gal; M Beck; A C Sewell; C P Morris; E Schwinger; J J Hopwood
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Medical genetics in Israel.

Authors:  R M Goodman; B Bonne-Tamir; A Adam; R Voss; G Bach; Y Shiloh; M B Katznelson; G Barkai; B Goldman; B Padeh
Journal:  J Med Genet       Date:  1989-03       Impact factor: 6.318

3.  Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing.

Authors:  K M Timms; F J Edwards; J W Belmont; J R Yates; R A Gibbs
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

4.  Hunter syndrome: prenatal diagnosis in maternal serum.

Authors:  J Zlotogora; G Bach
Journal:  Am J Hum Genet       Date:  1986-02       Impact factor: 11.025

Review 5.  Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.

Authors:  Louise L C Pinto; Taiane A Vieira; Roberto Giugliani; Ida V D Schwartz
Journal:  Orphanet J Rare Dis       Date:  2010-05-28       Impact factor: 4.123

6.  Hunter syndrome in Jews in Israel: further evidence for prenatal selection favoring the Hunter allele.

Authors:  J Zlotogora; T Schaap; M Zeigler; G Bach
Journal:  Hum Genet       Date:  1991-03       Impact factor: 4.132

7.  Carrier detection of Hunter syndrome (MPS II) by biochemical and DNA techniques in families at risk.

Authors:  W Schröder; L Petruschka; M Wehnert; M Zschiesche; G Seidlitz; J J Hopwood; F H Herrmann
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

8.  Clinical and biochemical studies in mucopolysaccharidosis type II carriers.

Authors:  I V D Schwartz; L L C Pinto; G Breda; L Lima; M G Ribeiro; J G Mota; A X Acosta; P Correia; D D G Horovitz; C G G Porciuncula; E Lipinski-Figueiredo; A C Fett-Conte; R P Oliveira Sobrinho; D Y J Norato; A C Paula; C A Kim; A R Duarte; R Boy; S Leistner-Segal; M G Burin; R Giugliani
Journal:  J Inherit Metab Dis       Date:  2009-10-10       Impact factor: 4.982

9.  Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.

Authors:  J J Jonsson; E L Aronovich; S E Braun; C B Whitley
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

10.  Hunter syndrome among Ashkenazi Jews in Israel; evidence for prenatal selection favoring the Hunter allele.

Authors:  J Zlotogora; T Schaap; M Zeigler; G Bach
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132
  10 in total

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