The mode of genetic transmission of a gouty family with increased phosphoribosylpyrophosphate synthetase activity View Full Text


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Article Info

DATE

1981-09

AUTHORS

Fujio Takeuchi, Fumio Hanaoka, Eiji Yano, Masa-atsu Yamada, Yoshihiko Horiuchi, Ieo Akaoka

ABSTRACT

The mode of genetic transmission of gout and increased activity of phosphoribosylpyrophosphate synthetase (PRPPS) was studied in one family. Among 15 members of Family F, two male members had gout and had PRPPS activity of erythrocyte lysates three times higher than normal subjects. Five female members had activity 2.5 times higher than normal. The difference between the activities of male and female affected members was statistically significant (P<0.05). To examine the genetic trait of this abnormal PRPPS, the incorporation of 3H-adenine into erythrocytes or lymphocytes was studied using autoradiography. The number of grains which show the uptake of labeled adenine into cells revealed a normal distribution pattern in two normal persons and in two male patients, and a mixed pattern of the two cell populations in two female affected members. These results suggested mosaicism in female members and X-linked dominant transmission of this trait. Thermal inactivation of PRPPS of an affected female was intermediate between that from a normal subject and that from the affected males. This result showed the heterogeneity of the PRPPS from the hemolysate of an affected famale. The genotype of PRPPS on the X-chromosome was assumed and the lod score between PRPPS and Xg was also estimated. From these findings and electrophoretical study, it was suggested that the abnormal enzyme was a mutant enzyme transmitted in an X-linked dominant trait, and that the mutation occurred on the structural gene of the PRPPS. More... »

PAGES

322-330

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00294932

DOI

http://dx.doi.org/10.1007/bf00294932

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1035907324

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/6276287


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