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HPRT and the Lesch—Nyhan syndrome

✍ Scribed by Pragna I. Patel; C. Thomas Caskey

Publisher
John Wiley and Sons
Year
1985
Tongue
English
Weight
638 KB
Volume
2
Category
Article
ISSN
0265-9247

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✦ Synopsis

De$ciency of the enzyme hypoxanthineguanine phosphoribosyltransferase (HPRT) in humans leads to the neurological disorder, Lesch-Nyhan syndrome.

HPRTcDNA sequences have been used to demonstrate a heterogeneous group of mutations causing this disorder, one of which is clearly a new mutation. HPRT expression vectors, which function in conferring the H P R P phenotype to Lesch-Nyhan fibroblasts and lymphoblasts, have been constructed using cDNA sequences. Retroviruses encoding human HPRT have been used to infect bone marrow cells followed by transplantation of these cells into mice. The successful transfer and expression of the human HPRT gene in mice is a promising step towards somatic cell therapy for Lesch-Nyhan syndrome.

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