Literature DB >> 3422216

Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia.

M Schwartz1, H M Yang, E Niebuhr, T Rosenberg, D C Page.   

Abstract

In two unrelated families, males have been identified who suffer from choroideremia and at the same time have an interstitial deletion on the proximal long arm of the X chromosome. By high-resolution banding we have characterized the deletion chromosomes as del(X)(q21.1-q21.33) and del(X)(q21.2-q21.31) respectively. By Southern blot analysis we have mapped ten different polymorphic DNA loci relative to the position of the deletion and the choroideremia locus TCD. One probe, p31, was shown to cover one of the breakpoints of the smallest deletion. The following order of the loci was suggested by deletion mapping: cen-DXS106-DXS72-TCD-(DXYS1/DXYS23/DXYS5)- DXYS2-(DXYS12/DXS3)-(DXS17/DXS101)- Xqter.

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Year:  1988        PMID： 3422216     DOI： 10.1007/BF00278188

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


  27 in total

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Authors:  E WESTERLUND
Journal:  Acta Ophthalmol (Copenh)       Date:  1956

Review 2.  Mechanisms of chromosome banding and implications for chromosome structure.

Authors:  D E Comings
Journal:  Annu Rev Genet       Date:  1978       Impact factor: 16.830

3.  A strategy to reveal high-frequency RFLPs along the human X chromosome.

Authors:  J Aldridge; L Kunkel; G Bruns; U Tantravahi; M Lalande; T Brewster; E Moreau; M Wilson; W Bromley; T Roderick
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

4.  X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.

Authors:  A Gal; J Mücke; H Theile; P F Wieacker; H H Ropers; T F Wienker
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

5.  Choroideremia. A clinical and genetic study of 84 Finnish patients and 126 female carriers.

Authors:  J Kärnä
Journal:  Acta Ophthalmol Suppl       Date:  1986

6.  Linkage of an X-chromosome cleft palate gene.

Authors:  G E Moore; A Ivens; J Chambers; M Farrall; R Williamson; D C Page; A Bjornsson; A Arnason; O Jensson
Journal:  Nature       Date:  1987 Mar 5-11       Impact factor: 49.962

7.  An international system for human cytogenetic nomenclature--high-resolution banding (1981). ISCN (1981). Report of the Standing Committee on Human Cytogenetic Nomenclature.

Authors: 
Journal:  Cytogenet Cell Genet       Date:  1981

8.  Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene.

Authors:  A P Monaco; R L Neve; C Colletti-Feener; C J Bertelson; D M Kurnit; L M Kunkel
Journal:  Nature       Date:  1986 Oct 16-22       Impact factor: 49.962

9.  Choroideremia-locus maps between DXS3 and DXS11 on Xq.

Authors:  A Gal; F Brunsmann; D Hogenkamp; K Rüther; D Ahlert; T F Wienker; W Hammerstein; I H Pawlowitzki
Journal:  Hum Genet       Date:  1986-06       Impact factor: 4.132

10.  Choroideremia: further evidence for assignment of the locus to Xq13-Xq21.

Authors:  M Schwartz; T Rosenberg; E Niebuhr; C Lundsteen; H Sardemann; O Andersen; H M Yang; L U Lamm
Journal:  Hum Genet       Date:  1986-12       Impact factor: 4.132
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  22 in total

1.  Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21.

Authors:  I Bach; D Robinson; N Thomas; H H Ropers; F P Cremers
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

2.  Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase.

Authors:  J B Bateman
Journal:  Trans Am Ophthalmol Soc       Date:  1992

3.  A hemizygous A to CC base change of the CHM gene causing choroideremia associated with pinealoma.

Authors:  Y Hotta; K Fujiki; M Hayakawa; N Kohno; H Kitagawa; R Doi; A Kanai
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1997-10       Impact factor: 3.117

4.  Dystonia-parkinsonism syndrome (XDP) locus: flanking markers in Xq12-q21.1.

Authors:  K G Kupke; M B Graeber; U Müller
Journal:  Am J Hum Genet       Date:  1992-04       Impact factor: 11.025

5.  Physical mapping of an Xq-proximal interstitial duplication in a male.

Authors:  F Muscatelli; J M Verna; N Philip; A Moncla; M G Mattei; J F Mattei; M Fontes
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

6.  Multipoint linkage analysis in Menkes disease.

Authors:  T Tønnesen; A Petterson; T A Kruse; A M Gerdes; N Horn
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

7.  A deletion panel of the long arm of the X chromosome: subregional localization of 22 DNA probes.

Authors:  H M Yang; T Lund; E Niebuhr; S Nørby; M Schwartz; L Shen
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

8.  Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing.

Authors:  J A van den Hurk; T J van de Pol; C M Molloy; F Brunsmann; K Rüther; E Zrenner; A J Pinckers; I H Pawlowitzki; E M Bleeker-Wagemakers; B Wieringa
Journal:  Am J Hum Genet       Date:  1992-06       Impact factor: 11.025

9.  Linkage of PGK1 to X-linked severe combined immunodeficiency (IMD4) allows predictive testing in families with no surviving male.

Authors:  J Goodship; R Levinsky; S Malcolm
Journal:  Hum Genet       Date:  1989-12       Impact factor: 4.132

10.  Haplotype and multipoint linkage analysis in Finnish choroideremia families.

Authors:  E M Sankila; T Lehner; A W Eriksson; H Forsius; J Kärnä; D Page; J Ott; A de la Chapelle
Journal:  Hum Genet       Date:  1989-12       Impact factor: 4.132
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