Literature DB >> 2499679

Further evidence localising the gene for Hunter's syndrome to the distal region of the X chromosome long arm.

S H Roberts1, M Upadhyaya, M Sarfarazi, P S Harper.   

Abstract

Cytogenetic re-evaluation of a fibroblast cell line from a female Hunter's syndrome case with a balanced X;autosome translocation, which had previously been reported to have a breakpoint in Xq26 to Xq27, showed the breakpoint to be either between Xq27 and Xq28 or within Xq28. The normal X chromosome was preferentially inactivated, supporting the view that the translocation had disrupted the Hunter gene. The new localisation is now in full agreement with our previous linkage work and other published data. Results of further linkage studies using probes defining the loci DXS86, DXS144, DXS100, DXS102, DXS105, F8C, and DXS134 are also consistent with our original conclusion that the Hunter locus lies within the distal region of the X chromosome long arm.

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Year:  1989        PMID： 2499679      PMCID： PMC1015597          DOI： 10.1136/jmg.26.5.309

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  18 in total

1.  Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome.

Authors:  I Oberlé; G Camerino; C Kloepfer; J P Moisan; K H Grzeschik; B Hellkuhl; M C Hors-Cayla; N Van Cong; D Weil; J L Mandel
Journal:  Hum Genet       Date:  1986-01       Impact factor: 4.132

2.  Report of the committee on the genetic constitution of the X and Y chromosomes.

Authors:  K E Davies; J L Mandel; J Weissenbach; M Fellous
Journal:  Cytogenet Cell Genet       Date:  1987

3.  New Giemsa method for the differential staining of sister chromatids.

Authors:  P Perry; S Wolff
Journal:  Nature       Date:  1974-09-13       Impact factor: 49.962

4.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

5.  Analysis of the fragile-X chromosome: localization and detection of the fragile site in high resolution preparations.

Authors:  M S Krawczun; E C Jenkins; W T Brown
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

6.  Localization by in situ hybridization of the coagulation factor IX gene and of two polymorphic DNA probes with respect to the fragile X site.

Authors:  M G Mattei; M A Baeteman; R Heilig; I Oberlé; K Davies; J L Mandel; J F Mattei
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

7.  Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene.

Authors:  J Mossman; S Blunt; R Stephens; E E Jones; M Pembrey
Journal:  Arch Dis Child       Date:  1983-11       Impact factor: 3.791

8.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

9.  Localisation of the gene for Hunter syndrome on the long arm of X chromosome.

Authors:  M Upadhyaya; M Sarfarazi; J S Bamforth; N S Thomas; I Oberle; I Young; P S Harper
Journal:  Hum Genet       Date:  1986-12       Impact factor: 4.132

10.  The human genes for hemophilia A and hemophilia B flank the X chromosome fragile site at Xq27.3.

Authors:  M Purrello; B Alhadeff; D Esposito; P Szabo; M Rocchi; M Truett; F Masiarz; M Siniscalco
Journal:  EMBO J       Date:  1985-03       Impact factor: 11.598
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  6 in total

1.  Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.

Authors:  J T Clarke; P J Wilson; C P Morris; J J Hopwood; R I Richards; G R Sutherland; P N Ray
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

2.  Long-term follow-up following bone marrow transplantation for Hunter disease.

Authors:  A Vellodi; E Young; A Cooper; V Lidchi; B Winchester; J E Wraith
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

3.  Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl.

Authors:  J T Clarke; W L Greer; P M Strasberg; R D Pearce; M A Skomorowski; P N Ray
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

4.  Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.

Authors:  K Sukegawa-Hayasaka; Z Kato; H Nakamura; S Tomatsu; T Fukao; K Kuwata; T Orii; N Kondo
Journal:  J Inherit Metab Dis       Date:  2006-11-07       Impact factor: 4.982

5.  Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome.

Authors:  P J Wilson; G K Suthers; D F Callen; E Baker; P V Nelson; A Cooper; J E Wraith; G R Sutherland; C P Morris; J J Hopwood
Journal:  Hum Genet       Date:  1991-03       Impact factor: 4.132

6.  Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families.

Authors:  Y Yamada; S Tomatsu; K Sukegawa; Y Suzuki; N Kondo; J J Hopwood; T Orii
Journal:  Hum Genet       Date:  1993-09       Impact factor: 4.132
  6 in total

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