Studies on hair roots for carrier detection in hypoxanthine-guanine phosphoribosyl transferase deficiency

2008 ◽  
Vol 5 (5) ◽  
pp. 449-456 ◽  
Author(s):  
C. H. M. M. Bruyn ◽  
T. L. Oei ◽  
B. G. A. Haar
Keyword(s):  
Carrier Detection ◽  
Phosphoribosyl Transferase ◽  
Hair Roots ◽  
Transferase Deficiency ◽  
Hypoxanthine Guanine Phosphoribosyl Transferase

An improved procedure for detection of hypoxanthine--guanine phosphoribosyl transferase heterozygotes.

1982 ◽  
Vol 28 (5) ◽  
pp. 1181-1184 ◽  
Author(s):  
T Page ◽  
B Bakay ◽  
W L Nyhan
Keyword(s):  
Thin Layer ◽  
Thin Layer Chromatography ◽  
Genetic Defect ◽  
Phosphoribosyl Transferase ◽  
Hair Roots ◽  
Specialized Equipment ◽  
Heterozygous Carriers ◽  
Hypoxanthine Guanine Phosphoribosyltransferase ◽  
Layer Chromatography ◽  
Hypoxanthine Guanine Phosphoribosyl Transferase

Abstract The absence of activity of the enzyme hypoxanthine-guanine phosphoribosyltransferase (EC 2.4.2.8) is known to be the cause of the Lesch-Nyhan syndrome. Previous methods for detection of heterozygous carriers of this genetic defect either are quite time consuming, require specialized equipment, or lack the necessary sensitivity. We present here a method in which thin-layer chromatography and autoradiography are used to assay the activity of this enzyme in individual hair roots collected from the scalp of the possible carrier. This method is fast and sensitive, and requires no specialized equipment.

scholarly journals A FAMILY OF HYPOXANTHINE-GUANINE PHOSPHORIBOSYL TRANSFERASE DEFICIENCY WITHOUT NEUROLOGICAL DISORDERS

1975 ◽  
Vol 64 (1) ◽  
pp. 38-43
Author(s):  
Teruhiko TOYO-OKA ◽  
Ieo AKAOKA ◽  
Tsuneo NISHIZAWA ◽  
Takashi YOSHIMURA ◽  
Yutaro NISHIDA ◽  
...  
Keyword(s):  
Neurological Disorders ◽  
Phosphoribosyl Transferase ◽  
Transferase Deficiency ◽  
Hypoxanthine Guanine Phosphoribosyl Transferase
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