Literature DB >> 1355560

Genetic mapping of X linked ocular albinism: linkage analysis in British families.

S J Charles1, A T Moore, J R Yates.   

Abstract

Genetic linkage studies were performed in 16 British families affected by X linked ocular albinism (XLOA) using RFLPs from the Xp22.3 region. Linkage was confirmed between the XLOA locus (OA1) and the loci DXS143 (dic56; Zmax = 15.90 at theta = 0.0, confidence interval (CI) 0-0.035), DXS85 (782; Zmax = 15.67 at theta = 0.04, CI = 0.007-0.11), and DXS237 (GMGX9; Zmax = 12.65 at theta = 0.08, CI = 0.03-0.17). Multipoint linkage analysis placed OA1 between DXS85 (782) and DXS237 (GMGX9) with odds exceeding 10(4):1 to give the map DXS85-(OA1,DXS143)-DXS237-XG-Xpter. OA1 lies close to DXS143 (dic56) but in the absence of recombinants the order of these loci could not be determined.

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Year:  1992        PMID： 1355560      PMCID： PMC1016060          DOI： 10.1136/jmg.29.8.552

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


  21 in total

1.  Genetic counselling in X-linked ocular albinism: clinical features of the carrier state.

Authors:  S J Charles; A T Moore; J W Grant; J R Yates
Journal:  Eye (Lond)       Date:  1992       Impact factor: 3.775

2.  Sex-linked ocular albinism displaying typical fundus changes in the female heterozygote.

Authors:  H F FALLS
Journal:  Am J Ophthalmol       Date:  1951-05       Impact factor: 5.258

3.  Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis.

Authors:  A A Bergen; C Samanns; D B Van Dorp; M A Ferguson-Smith; A Gal; E M Bleeker-Wagemakers
Journal:  Ophthalmic Paediatr Genet       Date:  1990-09

4.  An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry.

Authors:  R E Schnur; B J Trask; G van den Engh; H H Punnett; M Kistenmacher; M A Tomeo; R E Naids; R L Nussbaum
Journal:  Am J Hum Genet       Date:  1989-11       Impact factor: 11.025

5.  An RFLP detecting single copy X-chromosome fragment, dic56, from Xp22-Xpter [HGM8 assignment no. DXS 143].

Authors:  W Middlesworth; C Bertelson; L M Kunkel
Journal:  Nucleic Acids Res       Date:  1985-08-12       Impact factor: 16.971

6.  Report of the committee on linkage and gene order.

Authors:  B Keats; J Ott; M Conneally
Journal:  Cytogenet Cell Genet       Date:  1989

7.  Linkage analysis in X-linked ocular albinism.

Authors:  R E Schnur; R L Nussbaum; L Anson-Cartwright; C McDowell; R G Worton; M A Musarella
Journal:  Genomics       Date:  1991-04       Impact factor: 5.736

8.  Visual system anomalies in human ocular albinos.

Authors:  D Creel; F E O'Donnell; C J Witkop
Journal:  Science       Date:  1978-09-08       Impact factor: 47.728

9.  Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy.

Authors:  M H Hofker; M C Wapenaar; N Goor; E Bakker; G J van Ommen; P L Pearson
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

10.  Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency).

Authors:  E F Gillard; N A Affara; J R Yates; D R Goudie; J Lambert; D A Aitken; M A Ferguson-Smith
Journal:  Nucleic Acids Res       Date:  1987-05-26       Impact factor: 16.971
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  9 in total

Review 1.  Albinism: modern molecular diagnosis.

Authors:  S M Carden; R E Boissy; P J Schoettker; W V Good
Journal:  Br J Ophthalmol       Date:  1998-02       Impact factor: 4.638

2.  Clinical features of affected males with X linked ocular albinism.

Authors:  S J Charles; J S Green; J W Grant; J R Yates; A T Moore
Journal:  Br J Ophthalmol       Date:  1993-04       Impact factor: 4.638

3.  Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.

Authors:  A Meindl; D Hosenfeld; W Brückl; S Schuffenhauer; J Jenderny; A Bacskulin; H C Oppermann; O Swensson; P Bouloux; T Meitinger
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

4.  Carrier detection in X linked ocular albinism using linked DNA polymorphisms.

Authors:  S J Charles; A T Moore; Y Zhang; R McMahon; D E Barton; J R Yates
Journal:  Br J Ophthalmol       Date:  1994-07       Impact factor: 4.638

5.  Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci.

Authors:  Y Zhang; R McMahon; S J Charles; J S Green; A T Moore; D E Barton; J R Yates
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318

6.  X linked ocular albinism in Japanese patients.

Authors:  T Shiono; M Tsunoda; Y Chida; M Nakazawa; M Tamai
Journal:  Br J Ophthalmol       Date:  1995-02       Impact factor: 4.638

Review 7.  Genetics of gene expression in CNS.

Authors:  Ashutosh K Pandey; Robert W Williams
Journal:  Int Rev Neurobiol       Date:  2014       Impact factor: 3.230

8.  Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes.

Authors:  R E Schnur; P A Wick; C Bailey; T Rebbeck; R G Weleber; J Wagstaff; A W Grix; R A Pagon; A Hockey; M J Edwards
Journal:  Am J Hum Genet       Date:  1994-09       Impact factor: 11.025

9.  Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay.

Authors:  Valérie Faugère; Sylvie Tuffery-Giraud; Christian Hamel; Mireille Claustres
Journal:  BMC Genet       Date:  2003-01-07       Impact factor: 2.797
  9 in total

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