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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1988 Jun;42(6):889–897.

Segregation analysis with uncertain ascertainment: application to Fanconi anemia.

A Rogatko 1, A D Auerbach 1
PMCID: PMC1715212  PMID: 3369448

Abstract

A Bayesian solution for making inferences about segregation parameters with no information about the ascertainment is presented. Inferences about the segregation probability and the probability of being sporadic are made through the posterior marginal distribution of these parameters after integrating out the ascertainment probability, the nuisance parameter. The method was tested with real and simulated data and performed well. Original Fanconi anemia data, for which no information about the ascertainment was available, were then analyzed, with results that confirmed a monogenic autosomal recessive mode of inheritance.

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Selected References

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  1. Auerbach A. D., Adler B., Chaganti R. S. Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method. Pediatrics. 1981 Jan;67(1):128–135. [PubMed] [Google Scholar]
  2. Auerbach A. D., Min Z., Ghosh R., Pergament E., Verlinsky Y., Nicolas H., Boué J. Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia. Hum Genet. 1986 May;73(1):86–88. doi: 10.1007/BF00292671. [DOI] [PubMed] [Google Scholar]
  3. Auerbach A. D., Sagi M., Adler B. Fanconi anemia: prenatal diagnosis in 30 fetuses at risk. Pediatrics. 1985 Nov;76(5):794–800. [PubMed] [Google Scholar]
  4. Auerbach A. D., Wolman S. R. Susceptibility of Fanconi's anaemia fibroblasts to chromosome damage by carcinogens. Nature. 1976 Jun 10;261(5560):494–496. doi: 10.1038/261494a0. [DOI] [PubMed] [Google Scholar]
  5. Ewens W. J., Shute N. C. The limits of ascertainment. Ann Hum Genet. 1986 Oct;50(Pt 4):399–402. doi: 10.1111/j.1469-1809.1986.tb01760.x. [DOI] [PubMed] [Google Scholar]
  6. Fanconi G. Familial constitutional panmyelocytopathy, Fanconi's anemia (F.A.). I. Clinical aspects. Semin Hematol. 1967 Jul;4(3):233–240. [PubMed] [Google Scholar]
  7. Glanz A., Fraser F. C. Spectrum of anomalies in Fanconi anaemia. J Med Genet. 1982 Dec;19(6):412–416. doi: 10.1136/jmg.19.6.412. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Greenberg D. A. The effect of proband designation on segregation analysis. Am J Hum Genet. 1986 Sep;39(3):329–339. [PMC free article] [PubMed] [Google Scholar]
  9. MORTON N. E. Genetic tests under incomplete ascertainment. Am J Hum Genet. 1959 Mar;11(1):1–16. [PMC free article] [PubMed] [Google Scholar]
  10. Rogatko A., Pereira C. A., Frota-Pessoa O. A Bayesian method for the estimation of penetrance: application to mandibulofacial and frontonasal dysostoses. Am J Med Genet. 1986 Jun;24(2):231–246. doi: 10.1002/ajmg.1320240204. [DOI] [PubMed] [Google Scholar]
  11. Schroeder T. M., Anschütz F., Knopp A. Spontane Chromosomenaberrationen bei familiärer Panmyelopathie. Humangenetik. 1964;1(2):194–196. doi: 10.1007/BF00389636. [DOI] [PubMed] [Google Scholar]
  12. Schroeder T. M., Tilgen D., Krüger J., Vogel F. Formal genetics of Fanconi's anemia. Hum Genet. 1976 Jun 29;32(3):257–288. doi: 10.1007/BF00295817. [DOI] [PubMed] [Google Scholar]
  13. Wright S. W., Morton N. E. Genetic studies on cystic fibrosis in Hawaii. Am J Hum Genet. 1968 Mar;20(2):157–169. [PMC free article] [PubMed] [Google Scholar]

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