Open AccessHypopigmentation in the Prader‐Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele
Author(s) -
Spritz Richard A.,
Bailin T. U.,
Nicholls Robert D.,
Lee SeungTaek,
Park SangKyu,
Mascari Maria J.,
Butler Merlin G.
Publication year - 1997
Publication title -
american journal of medical genetics
Language(s) - English
Resource type - Journals
eISSN - 1096-8628
pISSN - 0148-7299
DOI - 10.1002/(sici)1096-8628(19970711)71:1<57::aid-ajmg11>3.0.co;2-u
Subject(s) - hypopigmentation , genetics , allele , haplotype , biology , context (archaeology) , locus (genetics) , albinism , gene , paleontology
The Prader‐Willi syndrome (PWS) usually results from a paternal deletion of 15q11‐q13 or maternal disomy for chromosome 15. Reduced pigmentation of skin, hair, and eyes is common in PWS and was suggested previously to be associated with the 15q11‐q13 deletion. The P gene, located in this same region, is associated with OCA2, an autosomal recessive disorder that is the most frequent form of tyrosinase‐positive oculocutaneous albinism. We studied 28 individuals with PWS and found that hemizygosity for the P gene was significantly correlated with the occurrence of hypopigmentation among PWS patients. However, we found little or no relationship between the occurrence of hypopigmentation and the polymorphism haplotype of the intact P allele. Thus, our results indicate that hypopigmentation is likely the result of deletion of the P gene in the context of PWS but do not support the linked hypothesis that hypopigmentation results from hemizygosity for variant P alleles with reduced function. Am. J. Med. Genet. 71:57–62, 1997. © 1997 Wiley‐Liss, Inc.