Literature DB >> 7169220

Replication status of the fragile X chromosome, fra(X)(q27), in three heterozygous females.

R T Howell, A McDermott.   

Abstract

Investigation of lymphocyte cultures from three females heterozygous for fra(X)(q27) shows widely differing proportions of early and late replicating X chromosomes having the fragile site, and suggests that the replication status of the fragile X may be related to the mental capacity of the patient. The study has utilised a sequential staining technique to reduce ascertainment bias, and evidence is presented to suggest that the expression of the fragile site is independent of the differential incorporation of BUdR into the early and late replicating X chromosomes.

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Year:  1982        PMID: 7169220     DOI: 10.1007/bf00333538

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


  11 in total

1.  A marker X chromosome.

Authors:  H A Lubs
Journal:  Am J Hum Genet       Date:  1969-05       Impact factor: 11.025

2.  Fragile X chromosome: consistent demonstration of fragile site in fibroblast cultures.

Authors:  A P Gardner; R T Howell; A McDermott
Journal:  Lancet       Date:  1982-01-09       Impact factor: 79.321

3.  Fragile site Xq27 and mental retardation. Clinical and cytogenetic manifestation in heterozygotes and hemizygotes of five kindreds.

Authors:  A Schmidt
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

4.  X-linked mental retardation: a study of 7 families.

Authors:  P A Jacobs; T W Glover; M Mayer; P Fox; J W Gerrard; H G Dunn; D S Herbst
Journal:  Am J Med Genet       Date:  1980

5.  Apparent homozygosity for the fragile site at Xq28 in a normal female.

Authors:  K B Nielsen; N Tommerup; H Poulsen; M Mikkelsen
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

6.  X-linked mental retardation with fragile X. A pedigree showing transmission by apparently unaffected males and partial expression in female carriers.

Authors:  K B Nielsen; N Tommerup; H Poulsen; M Mikkelsen
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

7.  Fragile sites in human chromosomes II: demonstration of the fragile site Xq27 in carriers of X-linked mental retardation.

Authors:  P N Howard-Peebles
Journal:  Am J Med Genet       Date:  1980

8.  X-linked mental retardation with macro-orchidism and marker-X chromosomes.

Authors:  R H Martin; C C Lin; B J Mathies; R B Lowry
Journal:  Am J Med Genet       Date:  1980

9.  Heterozygous expression of X-linked mental retardation and X-chromosome marker fra(X)(q27).

Authors:  G Turner; R Brookwell; A Daniel; M Selikowitz; M Zilibowitz
Journal:  N Engl J Med       Date:  1980-09-18       Impact factor: 91.245

10.  FUdR induction of the X chromosome fragile site: evidence for the mechanism of folic acid and thymidine inhibition.

Authors:  T W Glover
Journal:  Am J Hum Genet       Date:  1981-03       Impact factor: 11.025

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  20 in total

1.  Replication patterns of the fragile X in heterozygous carriers: analysis by a BrdUrd antibody method.

Authors:  H Ohashi; A Kuwano; M Tsukahara; T Arinami; T Kajii
Journal:  Am J Hum Genet       Date:  1990-12       Impact factor: 11.025

2.  Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect.

Authors:  M Rocchi; N Archidiacono; A Rinaldi; G Filippi; G Bartolucci; G S Fancello; M Siniscalco
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

3.  Replication status of fragile X(q27.3) in 13 female heterozygotes.

Authors:  E Tuckerman; T Webb; A Thake
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

4.  Manifestation of the fragile site Xq27 in fibroblasts. IV. Clones from a heterozygous female do not manifest this site homogeneously on either the early or late replicating X chromosome.

Authors:  G Barbi; P Steinbach; S Baur; W Vogel
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

5.  Non-specific X-linked mental retardation with fragile X chromosome: somatic features, cytogenetic diagnosis and elements for genetic counselling.

Authors:  M A de Arce; E Law; J G Masterson
Journal:  Ir J Med Sci       Date:  1983-12       Impact factor: 1.568

Review 6.  The fragile X syndrome: the patients and their chromosomes.

Authors:  M A De Arce; A Kearns
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

7.  Frequency of the fragile X syndrome in institutionalized mentally retarded females in Japan.

Authors:  T Arinami; I Kondo; S Nakajima; H Hamaguchi
Journal:  Hum Genet       Date:  1987-08       Impact factor: 4.132

8.  Manifestation of the fragile site Xq27 in fibroblasts. III. A method to demonstrate R-type replication patterns and the fragile site.

Authors:  G Barbi; P Steinbach; A Wiedenmann; W Vogel
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

9.  Further segregation analysis of the fragile X syndrome with special reference to transmitting males.

Authors:  S L Sherman; P A Jacobs; N E Morton; U Froster-Iskenius; P N Howard-Peebles; K B Nielsen; M W Partington; G R Sutherland; G Turner; M Watson
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

10.  Carrier detection and X-inactivation studies in the fragile X syndrome. Cytogenetic studies in 63 obligate and potential carriers of the fragile X.

Authors:  K B Nielsen; N Tommerup; H Poulsen; P Jacobsen; B Beck; M Mikkelsen
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

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