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. 1983 Oct;20(5):334–337. doi: 10.1136/jmg.20.5.334

Linkage analysis of neurofibromatosis (von Recklinghausen disease).

M A Spence, J L Bader, D M Parry, L L Field, S J Funderburk, A E Rubenstein, P A Gilman, R S Sparkes
PMCID: PMC1049144  PMID: 6417334

Abstract

Linkage analysis of 28 genetic markers was undertaken in 108 subjects from 11 families with well-documented, classic, peripheral neurofibromatosis. Fifty-four persons were affected in one four-generation family, seven three-generation families, and three two-generation families. Lod scores were calculated using the standard LIPED programme for 49 combinations of theta male and theta female from 0.01 to 0.50. Lod scores excluded close linkage with 16 markers, including most tested on chromosome 1 and HLA on chromosome 6, and were inconclusive for 12 markers, including the secretor locus, closely linked to myotonic dystrophy. Analysis of five informative families resulted in a lod score of +2.2 for close linkage with GC on chromosome 4. However, the lod score for GC in the one additional informative family was negative, so that the final interpolated maximum was Z = 0.89 for theta male = 0.03, theta female = 0.28. Further studies are needed to evaluate this suggestion of linkage and possible genetic heterogeneity.

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Selected References

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

  1. Carey J. C., Laub J. M., Hall B. D. Penetrance and variability in neurofibromatosis: a genetic study of 60 families. Birth Defects Orig Artic Ser. 1979;15(5B):271–281. [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. Dykes D., Polesky H., Cox E. Isoelectric focusing of Gc (vitamin D binding globulin) in parentage testing. Hum Genet. 1981;58(2):174–175. doi: 10.1007/BF00278705. [DOI] [PubMed] [Google Scholar]
  4. Hodge S. E., Spence M. A., Crandall B. F., Sparkes R. S., Sparkes M. C., Crist M., Tideman S. Huntington disease: linkage analysis with age-of-onset corrections. Am J Med Genet. 1980;5(3):247–254. doi: 10.1002/ajmg.1320050305. [DOI] [PubMed] [Google Scholar]
  5. Ichikawa K., Crosley C. J., Culebras A., Weitkamp L. Coincidence of neurofibromatosis and myotonic dystrophy in a kindred. J Med Genet. 1981 Apr;18(2):134–138. doi: 10.1136/jmg.18.2.134. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. 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]
  7. Renwick J. H., Bundey S. E., Ferguson-Smith M. A., Izatt M. M. Confirmation of linkage of the loci for myotonic dystrophy and ABH secretion. J Med Genet. 1971 Dec;8(4):407–416. doi: 10.1136/jmg.8.4.407. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Riccardi V. M., Kleiner B., Lubs M. L. Neurofibromatosis: variable expression is not intrinsic to the mutant gene. Birth Defects Orig Artic Ser. 1979;15(5B):283–289. [PubMed] [Google Scholar]
  9. Robertson R. D., Spence M. A., Sparkes R. S., Neiswanger K., Field L. L. Linkage analysis with the trismus-pseudocamptodactyly syndrome. Am J Med Genet. 1982 May;12(1):115–120. doi: 10.1002/ajmg.1320120116. [DOI] [PubMed] [Google Scholar]
  10. SMITH C. A. TESTING FOR HETEROGENEITY OF RECOMBINATION FRACTION VALUES IN HUMAN GENETICS. Ann Hum Genet. 1963 Nov;27:175–182. doi: 10.1111/j.1469-1809.1963.tb00210.x. [DOI] [PubMed] [Google Scholar]

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