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. 1977 Jul;29(4):397–404.

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
PMCID: PMC1685400  PMID: 879170

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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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Chen S. H., Giblett E. R., Anderson J. E., Fossum B. L. Genetics of glutamic-pyruvic transaminase: its inheritance, common and rare variants, population distribution, and differences in catalytic activity. Ann Hum Genet. 1972 Apr;35(4):401–409. [PubMed] [Google Scholar]
  2. Crandall B. F., Spence M. A. Linkage relations of the phenylthiocarbamide locus (PTC). Hum Hered. 1974;24(3):247–252. doi: 10.1159/000152657. [DOI] [PubMed] [Google Scholar]
  3. Grützner P., Sanger R., Spivey B. E. Linkage studies in X-linked retinitis pigmentosa. Humangenetik. 1972;14(2):155–158. doi: 10.1007/BF00273301. [DOI] [PubMed] [Google Scholar]
  4. Hamerton J. L. Report of the committee on the genetic constitution of chromosomes 1 and 2. Birth Defects Orig Artic Ser. 1976;12(7):7–23. [PubMed] [Google Scholar]
  5. Hopkinson D. A., Mestriner M. A., Cortner J., Harris H. Esterase D: a new human polymorphism. Ann Hum Genet. 1973 Oct;37(2):119–137. doi: 10.1111/j.1469-1809.1973.tb01820.x. [DOI] [PubMed] [Google Scholar]
  6. Hussels-Maumenee I., Pierce E. R., Bias W. B., Schleutermann D. A. Linkage studies of typical retinitis pigmentosa and common markers. Am J Hum Genet. 1975 Jul;27(4):505–508. [PMC free article] [PubMed] [Google Scholar]
  7. Hussels I. Une famille atteinte de rétinopathie pigmentaire liée au sexe, de maladie de Parkinson et d'autres troubles neuro-psychiatriques. J Genet Hum. 1967 Jun;16(1):106–155. [PubMed] [Google Scholar]
  8. Kühnl P., Nowicki L., Spielmann W. Untersuchungen zum Polymorphismus der Galaktose-1-Phosphat-Uridyltransferase (EC: 2.7.7.12) mittels Agarosegelelektrophorese. Humangenetik. 1974;24(3):227–230. [PubMed] [Google Scholar]
  9. MORTON N. E. Further scoring types in sequential linkage tests, with a critical review of autosomal and partial sex linkage in man. Am J Hum Genet. 1957 Mar;9(1):55–75. [PMC free article] [PubMed] [Google Scholar]
  10. MORTON N. E. The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type. Am J Hum Genet. 1956 Jun;8(2):80–96. [PMC free article] [PubMed] [Google Scholar]
  11. Merritt A. D., Lovrien E. W., Rivas M. L., Conneally P. M. Human amylase loci: genetic linkage with the Duffy blood group locus and assignment to linkage group I. Am J Hum Genet. 1973 Sep;25(5):523–538. [PMC free article] [PubMed] [Google Scholar]
  12. Merritt A. D., Rivas M. L., Bixler D., Newell R. Salivary and pancreatic amylase: electrophoretic characterizations and genetic studies. Am J Hum Genet. 1973 Sep;25(5):510–522. [PMC free article] [PubMed] [Google Scholar]
  13. Meyers D. A., Conneally P. M., Lovrien E. W., Magenis R. E., Merritt A. D., Norton J. A., Palmer C. G., Rivas M. L., Wang L., Yu P. L. Linkage group I: the simultaneous estimation of recombination and interference. Birth Defects Orig Artic Ser. 1976;12(7):335–339. [PubMed] [Google Scholar]
  14. Ott J. A computer program for linkage analysis of general human pedigrees. Am J Hum Genet. 1976 Sep;28(5):528–529. [PMC free article] [PubMed] [Google Scholar]
  15. Ott J. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet. 1974 Sep;26(5):588–597. [PMC free article] [PubMed] [Google Scholar]
  16. Warburg M., Simonsen S. E. Sex-linked recessive retinitis pigmentosa. A preliminary study of the carriers. Acta Ophthalmol (Copenh) 1968;46(3):494–499. doi: 10.1111/j.1755-3768.1968.tb02836.x. [DOI] [PubMed] [Google Scholar]

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