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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
immunology and microbiology
C8 deficiency in a family with xeroderma pigmentosum. Lack of linkage to the HLA region
Clinical Immunology and Immunopathology, Volume 8, No. 3, Year 1977
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Description
The present study describes a large pedigree (23 members) of a Tunisian family with C8 deficiency and with a high incidence of xeroderma pigmentosum. It is shown in this study that, although the C8 deficiency is transmitted as an autosomal trait (three homozygous and five heterozygous individuals), heterozygote carriers having half-normal levels of C8 functionally and immunochemically, there is no close linkage between the C8-defective chromosome and the HLA antigen. These observations are in contrast to studies of another family described by Petersen et al. (1) and Merritt et al. (2) where the C8-defective gene was closely linked to MHC. © 1977.
Authors & Co-Authors
Giraldo, Gaetano
United States, New York
Memorial Sloan-kettering Cancer Center
France, Paris
Inserm
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Degos, Laurent
United States, New York
Memorial Sloan-kettering Cancer Center
France, Paris
Inserm
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Beth, Elke
United States, New York
Memorial Sloan-kettering Cancer Center
France, Paris
Inserm
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Sasportes, M.
United States, New York
Memorial Sloan-kettering Cancer Center
France, Paris
Inserm
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Marcelli, A.
United States, New York
Memorial Sloan-kettering Cancer Center
France, Paris
Inserm
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Gharbi, R.
United States, New York
Memorial Sloan-kettering Cancer Center
France, Paris
Inserm
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Day, Noorbibi K.B.
United States, New York
Memorial Sloan-kettering Cancer Center
France, Paris
Inserm
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Statistics
Citations: 39
Authors: 7
Affiliations: 3
Identifiers
Doi:
10.1016/0090-1229(77)90002-2
ISSN:
00901229
Research Areas
Genetics And Genomics
Study Design
Cohort Study