Mapping the X-linked lymphoproliferative syndrome

J C Skare, A Milunsky, K S Byron, J L Sullivan, J C Skare, A Milunsky, K S Byron, J L Sullivan

Abstract

The X-linked lymphoproliferative syndrome is triggered by Epstein-Barr virus infection and results in fatal mononucleosis, immunodeficiency, and lymphoproliferative disorders. This study shows that the mutation responsible for X-linked lymphoproliferative syndrome is genetically linked to a restriction fragment length polymorphism detected with the DXS42 probe (from Xq24-q27). The most likely recombination frequency between the loci is 4%, and the associated logarithm of the odds is 5.26. Haplotype analysis using flanking restriction fragment length polymorphism markers indicates that the locus for X-linked lymphoproliferative syndrome is distal to probe DXS42 but proximal to probe DXS99 (from Xq26-q27). It is now possible to predict which members of a family with X-linked lymphoproliferative syndrome are carrier females and to diagnose the syndrome prenatally.

References

    1. N Engl J Med. 1974 Feb 14;290(7):363-7
    1. Am J Hum Genet. 1974 Sep;26(5):588-97
    1. Lancet. 1975 Apr 26;1(7913):935-40
    1. N Engl J Med. 1975 Jul 10;293(2):62-5
    1. N Engl J Med. 1977 Nov 17;297(20):1077-80
    1. J Immunol. 1982 Feb;128(2):904-7
    1. Cytogenet Cell Genet. 1985;40(1-4):360-489
    1. J Clin Invest. 1983 Jun;71(6):1765-78
    1. Birth Defects Orig Artic Ser. 1983;19(3):321-3
    1. Am J Hum Genet. 1984 May;36(3):546-64
    1. Am J Hum Genet. 1985 May;37(3):463-72
    1. Science. 1985 Nov 15;230(4727):753-8
    1. Am J Med. 1982 Jul;73(1):49-56

Source: PubMed

Sponsors et collaborateurs

Les conditions médicales

Interventions en matière de drogue

3
S'abonner