HLA genotypes and HLA-linked genetic markers in Italian patients with classical 21-hydroxylase deficiency |
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| Authors: | M S Pollack M I New G J O'Neill L S Levine C Callaway S Pang E Cacciari F Mantero A Cassio C Scaroni G Chiumello G F Rondanini L Gargantini G Giovannelli R Virdis E Bartolotta C Migliori C Pintor L Tato F Barboni B Dupont |
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| Institution: | (1) Tissue Typing Laboratory, Sloan-Kettering Institute for Cancer Research, 1250 First Avenue, 10021 New York, NL, USA;(2) Division of Pediatric Endocrinology, Department of Pediatrics, The New York Hospital-Cornell Medical Center, 525 East 68th Street, 10021 New York, NY, USA;(3) Clinica Pediatrica dell'Universita, Via Massarenti 11, 40138 Bologna, Italy;(4) Instituto di Semeiotica Medica, Universita di Padova, Via Ospedale, Civile 105, Padova, Italy;(5) Centro di Endocrinologica Infantile, Clinica Pediatrica III, Dell'Universita di Milano, Ospedale  L. Sacco , Via G. B. Grassi 74, 20157 Milan, Italy;(6) Instituto di Clinica Pediatrica, Universita Degli Studi di Parma, Via A. Gramsci 14, 43100 Parma, Italy;(7) Clinica Pediatrica, Dell Universita Degli Studi di Ancona, Ospedale Salesi, Via Filippo Corridoni 11, 60100 Ancona, Italy;(8) La Clinica Pediatrica, Centro di Endocrinologica Pediatrica, Universita di Cagliari, Via Porcell 3, 09100 Cagliari, Italy;(9) Clinica Pediatrica, Ospedale Borgonuovo, Verona, Italy;(10) Laboratorio di Analisi Cliniche, Ospedale Provinciale Specializzato, M. Malpighi, Via Palagi 9, Bologna, Italy |
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| Abstract: | Summary HLA genotype and HLA-linked marker data for 40 unrelated patients from central Italy and 2 unrelated patients from Sardinia with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH-def) were analyzed. The results confirm that the HLA-linked 21-OH-def gene is associated with several different HLA determinants and complete HLA haplotypes, although the only determinant with significantly increased frequency was the complement C2 allele C2B. The HLA antigens B8 and DR3 were found in significantly decreased frequencies. The haplotype A3, Cw6, Bw47, BfF, DR7, which is exceptionally rare in the general population but which has been found in many other 21-OH-def patients from diverse geographical origins, was also found in one of the Italian patients. This and other HLA haplotype associations found among the Italian patients may represent mutations that have occurred on HLA haplotypes with genetic linkage disequilibrium or, alternatively, may represent mutations that have not yet had time to become randomly associated with different HLA complex determinants. The marked negative associations with B8 and DR3 could, however, result from an interaction between the gene products of the HLA complex and the 21-OH-def phenotype. |
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