Literature DB >> 879170

Probable genetic linkage between autosomal dominant retinitis pigmentosa (RP) and amylase (AMY2): evidence of an RP locus on chromosome 1.

M A Spence, R S Sparkes, J R Heckenlively, J T Pearlman, D Zedalis, M Sparkes, M Crist, S Tideman.   

Abstract

A linkage analysis is reported for three branches of a single family segregating for autosomal dominant retinitis pigmentosa. A statistically significant lod score of 3.9 is obtained for the RP locus and AMY2 at a recombination frequency of 1%. This linkage indicates that the RP locus is on the no. 1 chromosome since the AMY2 locus has been placed on the short arm of 1. Lod scores are reported for four other loci on chromosome 1; none of these achieve statistical significance. Analyses are reported for 23 additional autosomal markers and close linkage with RP can be excluded for a number of these.

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Year:  1977        PMID： 879170      PMCID： PMC1685400     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  16 in total

1.  Further scoring types in sequential linkage tests, with a critical review of autosomal and partial sex linkage in man.

Authors:  N E MORTON
Journal:  Am J Hum Genet       Date:  1957-03       Impact factor: 11.025

2.  Report of the committee on the genetic constitution of chromosomes 1 and 2.

Authors:  J L Hamerton
Journal:  Birth Defects Orig Artic Ser       Date:  1976

3.  Linkage studies of typical retinitis pigmentosa and common markers.

Authors:  I Hussels-Maumenee; E R Pierce; W B Bias; D A Schleutermann
Journal:  Am J Hum Genet       Date:  1975-07       Impact factor: 11.025

4.  A computer program for linkage analysis of general human pedigrees.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1976-09       Impact factor: 11.025

5.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

6.  [Investigations on the polymorphism of galactose-1-phosphate-uridyl-transferase by means of agarose gel electrophoresis].

Authors:  P Kühnl; L Nowicki; W Spielmann
Journal:  Humangenetik       Date:  1974

7.  Human amylase loci: genetic linkage with the Duffy blood group locus and assignment to linkage group I.

Authors:  A D Merritt; E W Lovrien; M L Rivas; P M Conneally
Journal:  Am J Hum Genet       Date:  1973-09       Impact factor: 11.025

8.  Genetics of glutamic-pyruvic transaminase: its inheritance, common and rare variants, population distribution, and differences in catalytic activity.

Authors:  S H Chen; E R Giblett; J E Anderson; B L Fossum
Journal:  Ann Hum Genet       Date:  1972-04       Impact factor: 1.670

9.  Linkage studies in X-linked retinitis pigmentosa.

Authors:  P Grützner; R Sanger; B E Spivey
Journal:  Humangenetik       Date:  1972

10.  [A family eith sex-linked retinitis pigmentosa, Parkinson disease and other neuro-psychiatric disorders].

Authors:  I Hussels
Journal:  J Genet Hum       Date:  1967-06
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  8 in total

1.  Status of the search for a major genetic locus for affective disorder in the Old Order Amish.

Authors:  A J Pakstis; J R Kidd; C M Castiglione; K K Kidd
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

2.  Estimating the recombination frequency for the PTC-Kell linkage.

Authors:  M Anne-Spence; C T Falk; K Neiswanger; L L Field; M L Marazita; F H Allen; R M Siervogel; A F Roche; B F Crandall; R S Sparkes
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

3.  Linkage analysis of five pedigrees affected with typical autosomal dominant retinitis pigmentosa.

Authors:  L L Field; J R Heckenlively; R S Sparkes; C A Garcia; C Farson; D Zedalis; M C Sparkes; M Crist; S Tideman; M A Spence
Journal:  J Med Genet       Date:  1982-08       Impact factor: 6.318

4.  Autosomal dominant retinitis pigmentosa: exclusion of the gene from the short arm of chromosome 1 including the region surrounding the rhesus locus.

Authors:  D G Bradley; G J Farrar; E M Sharp; P Kenna; M M Humphries; D J McConnell; S P Daiger; P McWilliam; P Humphries
Journal:  Am J Hum Genet       Date:  1989-04       Impact factor: 11.025

5.  Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences.

Authors:  H M Kingston; M Sarfarazi; N S Thomas; P S Harper
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

6.  RP1 is required for the correct stacking of outer segment discs.

Authors:  Qin Liu; Arkady Lyubarsky; Jason H Skalet; Edward N Pugh; Eric A Pierce
Journal:  Invest Ophthalmol Vis Sci       Date:  2003-10       Impact factor: 4.799

7.  Cowden disease: gene marker studies and measurements of epidermal growth factor.

Authors:  H E Carlson; T W Burns; S L Davenport; A M Luger; M A Spence; R S Sparkes; D N Orth
Journal:  Am J Hum Genet       Date:  1986-06       Impact factor: 11.025

8.  Progress in the search for genetic linkage with Tourette syndrome: an exclusion map covering more than 50% of the autosomal genome.

Authors:  A J Pakstis; P Heutink; D L Pauls; R Kurlan; B J van de Wetering; J F Leckman; L A Sandkuyl; J R Kidd; G J Breedveld; C M Castiglione
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025
  8 in total

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