Literature DB >> 1283150

Assessment of iduronate-2-sulfatase mRNA expression in Hunter syndrome (mucopolysaccharidosis type II).

P L Crotty1, C B Whitley.   

Abstract

Eight unrelated patients with Hunter syndrome were investigated for expression of iduronate-2-sulfatase (IDS) mRNA by reverse transcription (RT) linked to polymerase chain reaction (PCR), or RT-PCR. The entire coding region was studied by amplification of two overlapping segments of 0.7 and 1.1 kb. Seven children with Hunter syndrome had PCR products indistinguishable in size from normal. One patient, with clinically severe disease, did not produce either IDS product although mRNA for a control gene was readily amplified. This method rapidly identifies patients having absent or qualitatively abnormal IDS mRNA and may be useful in investigating genotype-phenotype relationships.

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Year:  1992        PMID： 1283150     DOI： 10.1007/BF00220080

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  13 in total

Review 1.  The mucopolysaccharidoses. Diagnosis, molecular genetics and treatment.

Authors:  J J Hopwood; C P Morris
Journal:  Mol Biol Med       Date:  1990-10

2.  Bone marrow transplantation in Hunter syndrome: a preliminary report.

Authors:  P I Warkentin; M S Dixon; I Schafer; S E Strandjord; P F Coccia
Journal:  Birth Defects Orig Artic Ser       Date:  1986

3.  Iduronate sulfatase from human plasma.

Authors:  A Wasteson; E F Neufeld
Journal:  Methods Enzymol       Date:  1982       Impact factor: 1.600

4.  A clinical and genetic study of Hunter's syndrome. 2. Differences between the mild and severe forms.

Authors:  I D Young; P S Harper; R G Newcombe; I M Archer
Journal:  J Med Genet       Date:  1982-12       Impact factor: 6.318

5.  A clinical and genetic study of Hunter's syndrome. 1. Heterogeneity.

Authors:  I D Young; P S Harper; I M Archer; R G Newcombe
Journal:  J Med Genet       Date:  1982-12       Impact factor: 6.318

6.  Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.

Authors:  P J Wilson; C P Morris; D S Anson; T Occhiodoro; J Bielicki; P R Clements; J J Hopwood
Journal:  Proc Natl Acad Sci U S A       Date:  1990-11       Impact factor: 11.205

7.  Mild form of Hunter's syndrome: clinical delineation based on 31 cases.

Authors:  I D Young; P S Harper
Journal:  Arch Dis Child       Date:  1982-11       Impact factor: 3.791

8.  The iduronate sulfatase gene: isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome.

Authors:  G Palmieri; V Capra; G Romano; M D'Urso; S Johnson; D Schlessinger; P Morris; J Hopwood; P Di Natale; R Gatti; A Ballabio
Journal:  Genomics       Date:  1992-01       Impact factor: 5.736

9.  DNA sequencing with chain-terminating inhibitors.

Authors:  F Sanger; S Nicklen; A R Coulson
Journal:  Proc Natl Acad Sci U S A       Date:  1977-12       Impact factor: 11.205
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  3 in total

1.  Metabolic correction and cross-correction of mucopolysaccharidosis type II (Hunter syndrome) by retroviral-mediated gene transfer and expression of human iduronate-2-sulfatase.

Authors:  S E Braun; E L Aronovich; R A Anderson; P L Crotty; R S McIvor; C B Whitley
Journal:  Proc Natl Acad Sci U S A       Date:  1993-12-15       Impact factor: 11.205

2.  Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.

Authors:  T C Olsen; H G Eiken; P M Knappskog; B F Kase; J E Månsson; H Boman; J Apold
Journal:  Hum Genet       Date:  1996-02       Impact factor: 4.132

3.  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
  3 in total

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