Prenatal diagnosis and carrier detection in primary immunodeficiency disorders.
نویسندگان
چکیده
منابع مشابه
Prenatal diagnosis and carrier detection for Athabascan severe combined immunodeficiency disease.
OBJECTIVES Severe combined immunodeficiency disease occurs at a high incidence among Athabascan-speaking Navajo and Apache children (SCIDA). We linked the SCIDA gene to chromosome 10p and recently identified a common nonsense mutation in Artemis/SCIDA. In this study we compared polymorphic markers linked to SCIDA and the point mutation which creates an NspI site on exon 8 for prenatal diagnosis...
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In this study, we used DNA polymorphisms for carrier detection and prenatal diagnosis of hemophilia A in a large group of Italian families. The restriction fragment length polymorphisms (RFLPs) investigated were the intragenic polymorphic Bc/I site within the factor VIII gene; the extragenic multiallelic Taq I system at the St14 locus; and the extragenic Bg/II site at the DX13 locus. The factor...
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In 1977 WHO published in the Bulletin a Memorandum on Methods for the Detection of Haemophilia Carriers. This was produced following a WHO/WFH (World Federation of Haemophilia) Meeting of Investigators in Geneva in November 1976, and has served as a valuable reference article on the genetics of haemophilia. The analyses discussed were based on phenotypic assessment, which, at that time, was the...
متن کاملPrimary Immunodeficiency Disorders
Immunodeficiency is a common thought among both patients and physicians when confronted with what is perceived as an excessive number, duration, or severity of infections. Because of this, the starting point for evaluating patients for suspected immunodeficiency is based on what constitutes ”too many infections.” It generally is agreed that children with normal immune systems may have an averag...
متن کاملPrimary Immunodeficiency Disorders
Selective IgA deficiency (IgAD) is the most common primary genetic immune defect, with high prevalence in Western countries and relatively low prevalence in the East. The laboratory definition of IgAD is based on the measured serum component. However, the important manifestations of deficiency of IgA, the most prevalent of human antibodies, relate to the absence of secretory IgA, which covers a...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1988
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.63.7_spec_no.758