Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia
- 31 Downloads
Segregation analysis was performed in three families affected in X-linked agammaglobulinemia (XLA) with five polymorphic DNA probes linked to the disease locus. In agreement with previous studies, no recombination was observed with either pXG12 (DXS94) or S21 (DXS17). Segregation analysis was also performed with a marker, p212 (DXS178), which has been shown to be closely linked to pXG12 in normal families. No cross-over with XLA was observed in these three families and in five additional families previously analyzed with DXS17 and DXS94 (z = 5.92 at θ = 0). These data provide evidence against genetic heterogeneity in XLA and indicate the value of probe p212 for carrier detection and prenatal diagnosis of XLA. We were able to estimate the carrier status of six females (out of six) in the three previously unreported families.
KeywordsInternal Medicine Metabolic Disease Prenatal Diagnosis Disease Locus Genetic Heterogeneity
Unable to display preview. Download preview PDF.
- Arveiler B, Oberlé I, Mandel JL (1987) Genetic mapping of nine DNA markers in the q11–q22 region of the human X chromosome. Genomics 1:60–66Google Scholar
- Camerino G, Grzeschik KH, Jaye M, DeLaSalle H, Tolstoshev P, Lecoq JP, Heilig R, Mandel JL (1984) Regional localization on the human X chromosome and polymorphism of coagulation factor IX gene (hemophilia B locus). Proc Natl Acad Sci USA 81:498–502Google Scholar
- Conley ME, Puck JM (1988) Carrier detection in typical and atypical X-linked agammaglobulinemia. J Pediatr 112:688–694Google Scholar
- Conley ME, Brown P, Pickard AR, Buckley RH, Miller DS, Raskind WH, Singer JW, Fialkow PJ (1986) Expression of the gene defect in X linked agammaglobulinemia. N Engl J Med 315:564–567Google Scholar
- Fearon ER, Winkelstein JA, Civin CI, Pardoll CM, Vogelstein B (1987) Carrier detection in X linked agammaglobulinemia by analysis of X chromosome inactivation. N Engl J Med 316:427–430Google Scholar
- Kwan SP, Kunkel L, Bruns GP, Wedgwood RJ, Latt S, Rosen FS (1986) Mapping of the X linked agammaglobulinemia locus by use of restriction fragment length polymorphism. J Clin Invest 77:649–652Google Scholar
- Lathrop GM, Lalouel JM, Julier C, Ott J (1984) Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443–3446Google Scholar
- Malcolm S, Saint Basile G de, Arveiler B, Lau YL, Szabo P, Fischer A, Griscelli C, Debre M, Mandel JL, Callard RE, Robertson ME, Goodship JA, Pembrey ME, Levinsky RJ (1987) Close linkage of random DNA fragments from X121. 3-q22 to X linked agammaglobulinemia (XLA). Hum Genet 77:172–174Google Scholar
- Mensink EJ, Thompson A, Schot JD, Greef WM van de, Sandkuyl LA, Schuurman RK (1986) Mapping of a gene for X linked agammaglobulinemia and evidence for genetic heterogeneity. Hum Genet 73:327–332Google Scholar
- Ott J, Mensink EJ, Thompson A, Schot JD, Shuurman RK (1986) Heterogeneity in the map distance between X linked agammaglobulinemia and a map of nine RFLP loci. Hum Genet 74:280–283Google Scholar
- Sandkuyl (1989) Cytogenet Cell Genet (in press)Google Scholar