title: Italian extended HLA haplotypes in congenital adrenal hyperplasia.
abstract: In order to complete the data on human 21-Hydroxylase deficiency, we present a study on HLA markers in 35 Italian families (14 from Northern, eight from Central and 13 from Southern Italy) with one affected child. Three children from the issue of first cousin marriages were homozygous for the whole HLA haplotype. Extended haplotypes shared by unrelated patients were not found, and a total absence of the HLA Bw47 allele among the haplotypes carrying the disease as well as normal haplotypes was observed. The absence of A1 Cw7 B8 BfS C4AQ0 C4B1 DR3 extended haplotype was instead confirmed. Allele frequencies in the different clinical forms were analyzed: BfSO7 allele frequency was significantly increased on haplotypes of the salt-wasting form (p less than 0.01). We noticed two duplications (C4B1-2) of C4B genes, on haplotypes involved in the disease. Allele distribution in the regions studied showed that Bw22 (w55), Cw3 and DR2 were characteristic of Northern patients, while B15 was found in patients from Central Italy.
authors.affiliation: INSERM U 100, Toulouse, France.
authors.forename: M
authors.initials: M
authors.lastname: Abbal
authors.forename: M C
authors.initials: MC
authors.lastname: Belvedere
authors.forename: C
authors.initials: C
authors.lastname: Livieri
authors.forename: F
authors.initials: F
authors.lastname: De Paoli
authors.forename: M
authors.initials: M
authors.lastname: Martinetti
authors.forename: F
authors.initials: F
authors.lastname: Severi
authors.forename: A
authors.initials: A
authors.lastname: Cambon-Thomsen
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics; D003181:Complement C4 / Q000235:genetics; D015934:Complement C4a; D015935:Complement C4b; D011415:Complement Factor B / Q000235:genetics; D008040:Genetic Linkage; D006680:HLA Antigens / Q000235:genetics*; D015234:HLA-A Antigens / Q000235:genetics; D015235:HLA-B Antigens / Q000235:genetics; D015236:HLA-C Antigens / Q000235:genetics; D006683:HLA-DQ Antigens / Q000235:genetics; D006684:HLA-DR Antigens / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D007558:Italy
chemical_list: D003181:Complement C4; D006680:HLA Antigens; D015234:HLA-A Antigens; D015235:HLA-B Antigens; D015236:HLA-C Antigens; D006683:HLA-DQ Antigens; D006684:HLA-DR Antigens; D015934:Complement C4a; D015935:Complement C4b; D011415:Complement Factor B