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. © 1989 Springer-Verlag.

Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia / Guioli, S.; Arveiler, B.; Bardoni, B.; Notarangelo, L. D.; Panina, P.; Duse, M.; Ugazio, A.; Oberle, I.; de Saint Basile, G.; Mandel, J. L.; Camerino, G.. - In: HUMAN GENETICS. - ISSN 0340-6717. - 84:1(1989), pp. 19-21. [10.1007/BF00210664]

Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia

Panina P.;
1989-01-01

Abstract

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. © 1989 Springer-Verlag.
1989
Agammaglobulinemia
Chromosome Mapping
Crossing Over, Genetic
DNA Probes
Female
Humans
Immunoglobulins
Lod Score
Male
Pedigree
Genetic Linkage
Polymorphism, Restriction Fragment Length
X Chromosome
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11768/105568
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