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Prenatal diagnosis and carrier detection of inherited immunodeficiency disorders
Author(s) -
Pelham A.,
Kin C.,
Levinsky R. J.
Publication year - 1990
Publication title -
pediatric allergy and immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.269
H-Index - 89
eISSN - 1399-3038
pISSN - 0905-6157
DOI - 10.1111/j.1399-3038.1990.tb00010.x
Subject(s) - medicine , prenatal diagnosis , restriction fragment length polymorphism , immunodeficiency , x chromosome , immune system , gene , immunology , genetics , biology , polymerase chain reaction , pregnancy , fetus
Clinical immunodeficiency states may arise as a consequence of genetic defects in the immune system. An increasing number of such diseases are now being identified and in some cases the underlying defects are well understood. In some disorders the outlook has been improved by advances in available treatment, but in most the prognosis is still very poor with death in early infancy in many cases. Recently, there have been significant advances in techniques for prenatal diagnosis and carrier detection for some of these disorders. These include the use of gene tracking by restriction fragment length polymorphism (RFLP) and deletion analysis, detection of defective gene products, assessment of cellular dysfunction, cell series analysis, and X‐chromosome inactivation studies for carrier detection.