Genetic prediction in X‐linked agammaglobulinaemia
- 1 October 1988
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 31 (2) , 437-448
- https://doi.org/10.1002/ajmg.1320310224
Abstract
S21 (DXS17) and pXG12 (DXS94), two probes linked to the locus of X‐linked agammaglobulinaemia (XLA), were used for genetic prediction in 13 such families. A method of allowing for nonallelic genetic heterogeneity was demonstrated in the calculation of the genetic risks, specifying a certain proportion of unlinked families. We further estimated the impact due to the uncertainty of the proportion of unlinked families on the final genetic risks in each family and this can be taken into account during genetic counseling.Keywords
This publication has 27 references indexed in Scilit:
- A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected maleNature, 1987
- Familial Properdin Deficiency and Fatal MeningococcemiaNew England Journal of Medicine, 1987
- Carrier Detection in X-Linked Agammaglobulinemia by Analysis of X-Chromosome InactivationNew England Journal of Medicine, 1987
- Genetic heterogeneity in X‐linked agammaglobulinemia complicates carrier detection and prenatal diagnosisClinical Genetics, 1987
- Applications and limitations of direct DNA analysis in genetic predictionJournal of Inherited Metabolic Disease, 1986
- First trimester prenatal diagnosis and detection of carriers of haemophilia A using the linked DNA probe DX13.BMJ, 1985
- X-Linked AgammaglobulinemiaMedicine, 1985
- Report of the committee on the genetic constitution of the X and Y chromosomesCytogenetic and Genome Research, 1985
- Primary immunodeficiency diseases: Report prepared for the WHO by a scientific group on immunodeficiencyClinical Immunology and Immunopathology, 1983
- A Family with Several Cases of HypogammaglobulinaemiaArchives of Disease in Childhood, 1962