Abstract
The Prader-Willi syndrome (PWS) usually results from a paternal deletion of 15qllqlS 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 ISq11-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.
| Original language | English |
|---|---|
| Pages (from-to) | 57-62 |
| Number of pages | 6 |
| Journal | American Journal of Medical Genetics |
| Volume | 71 |
| Issue number | 1 |
| Publication status | Published - 1997 Dec 1 |
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All Science Journal Classification (ASJC) codes
- Genetics
- Genetics(clinical)
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Hypopigmentation in the parder-willi syndrome correlates with p gene deletion but not with haplotype of the hemizygous p allele. / Spritz, Richard A.; Bailin, Tu; Nicholls, Robert D.; Lee, Seung Taek; Park, Sang Kyw; Mascari, Maria J.; Butler, Merlin G.
In: American Journal of Medical Genetics, Vol. 71, No. 1, 01.12.1997, p. 57-62.Research output: Contribution to journal › Article
TY - JOUR
T1 - Hypopigmentation in the parder-willi syndrome correlates with p gene deletion but not with haplotype of the hemizygous p allele
AU - Spritz, Richard A.
AU - Bailin, Tu
AU - Nicholls, Robert D.
AU - Lee, Seung Taek
AU - Park, Sang Kyw
AU - Mascari, Maria J.
AU - Butler, Merlin G.
PY - 1997/12/1
Y1 - 1997/12/1
N2 - The Prader-Willi syndrome (PWS) usually results from a paternal deletion of 15qllqlS 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 ISq11-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.
AB - The Prader-Willi syndrome (PWS) usually results from a paternal deletion of 15qllqlS 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 ISq11-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.
UR - http://www.scopus.com/inward/record.url?scp=0030922598&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0030922598&partnerID=8YFLogxK
M3 - Article
C2 - 9215770
AN - SCOPUS:0030922598
VL - 71
SP - 57
EP - 62
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -