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Identification of two SNPs in the 5′ flanking region of the ACP1 gene and evaluation of disequilibrium among polymorphic sites

Published online by Cambridge University Press:  21 October 2002

G. FAGGIONI ,
P. BORGIANI ,
N. BOTTINI ,
F. GLORIA-BOTTINI ,
F. TONTOLI ,
V. CONTREAS ,
E. BOTTINI  and
F. LISTA
G. FAGGIONI
Affiliation:
Army Medical and Veterinary Research Center, Rome, Italy Department of Biopathology and Imaging Diagnostics, Division of Preventive and Social Pediatrics, II Università “Tor Vergata”, Rome, Italy
P. BORGIANI
Affiliation:
Department of Biopathology and Imaging Diagnostics, Division of Preventive and Social Pediatrics, II Università “Tor Vergata”, Rome, Italy
N. BOTTINI
Affiliation:
Department of Internal Medicine, Division of Allergy and Clinical Immunology, II Università “Tor Vergata” Rome, Italy The Burnnham Institute, La Jolla, California, USA
F. GLORIA-BOTTINI
Affiliation:
Department of Biopathology and Imaging Diagnostics, Division of Preventive and Social Pediatrics, II Università “Tor Vergata”, Rome, Italy
F. TONTOLI
Affiliation:
Army Medical and Veterinary Research Center, Rome, Italy
V. CONTREAS
Affiliation:
Army Medical Center, Rome, Italy
E. BOTTINI
Affiliation:
Department of Neurosciences, II Università “Tor Vergata”, Rome, Italy
F. LISTA
Affiliation:
Army Medical and Veterinary Research Center, Rome, Italy
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Abstract

We have studied the 5′ flanking region of the ACP1 gene looking for new polymorphisms. Two SNPs, DdeI and FokI restricted, have been found in this region. We determined the genotype of DdeI and FokI SNPs, as well as of three other known SNPs, codon 43 (CfoI restricted), codon 41 and codon 105 (TaqI restricted), located respectively in exons 3, 4 and 6 in 62 unrelated subjects from the Italian population. Haplotype distribution for the ten possible pairs of loci were determined by a maximum likelihood procedure. Overall, statistically significant deviations from expected frequencies assuming equilibrium have been observed for the following pairs: FokI/codon 41, FokI/TaqI, codon 41/TaqI (complete association), DdeI/FokI, DdeI/codon 41 and DdeI/TaqI. The data suggest that the FokI area could include sequences operating in strict functional association with sequences included in the codon 41/TaqI area, possibly in order to regulate the F/S isoforms ratio of the A* and *B alleles. Since the ratio between the concentration of the two F and S isoforms is different for the three ACP1 alleles, we suggest that the ACP1 locus has been subjected to strong selective pressure to obtain an optimal alternative splicing mechanism of the *A and *B alleles. The *C variant, on the other hand, seems completely independent from sequences in the FokI/codon 41/TaqI areas, resulting in an inverted F/S ratio compared to that found for *A and *B alleles.

Type
Research Article
Information
Annals of Human Genetics , Volume 66 , Issue 4 , July 2002 , pp. 245 - 254
Copyright
© University College London 2002

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