Trisomy 10p due to t(5;10)(p15;p11) segregating in a large sibship |
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| Authors: | Elke Back W. Vogel Clara Hertel L. Schuchmann |
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| Affiliation: | (1) Third Department of Internal Medicine, Yamaguchi University School of Medicine, 1144 Kogushi, 755 Ube-shi, Yamaguchi-ken, Japan;(2) Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan;(3) Department of Medicine, Yokohama City Hospital, Yokohama, Japan;(4) Third Department of Internal Medicine, Akita University School of Medicine, Akita, Japan |
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| Abstract: | Summary Three new glucose-6-phosphate dehydrogenase (G6PD) variants, which showed electrophoretically normal mobility and were associated with chronic nonspherocytic hemolytic anemia, were found in Japan. G6PD Ogikubo, found in a 17-year-old male whose red cells contained 3% of normal enzyme activity, had normal Km G6P, normal Km NADP, normal utilization of deamino-NADP, decreased heat stability, and a normal pH curve. G6PD Yokohama, characterized from a 15-year-old male, had 1.9% of normal enzyme activity, normal Km G6P, normal Km NADP, low Ki NADPH, normal utilizations of both 2-deoxy-G6P and deamino-NADP, decreased heat stability, and normal pH curve. G6PD Akita, characterized from a 56-year-old male, had an undetectably low activity when hemolysate was examined, normal Km G6P, normal Km NADP, normal Ki NADPH, normal utilizations of both 2-deoxy-G6P and deamino-NADP, decreased heat stability, and normal pH curve.The degree of hemolytic anemia was moderate to mild in all three patients. |
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