Interstitial deletion 2q32.1----q34 in a child with half normal activity of ribulose 5-phosphate 3-epimerase (RPE).
نویسندگان
چکیده
High resolution banding analysis showed a de novo interstitial deletion, 46,XX, del(2) (q32.1q34), in a malformed and severely mentally retarded girl aged nine years. Biochemical studies showed that the proband had half normal activities of both erythrocyte isocitrate dehydrogenase (IDH1) and ribulose 5-phosphate 3-epimerase (RPE). It is suggested that the gene for RPE is located on the segment 2q32.1----q34.
منابع مشابه
Structure of D-ribulose 5-phosphate 3-epimerase from Synechocystis to 1.6 A resolution.
The crystal structure of D-ribulose 5-phosphate 3-epimerase (RPE) from the cyanobacterium Synechocystis was determined by X-ray crystallography to 1.6 A resolution. The enzyme, which catalyzes the epimerization of D-ribulose 5-phosphate and D-xylulose 5-phosphate, assembles as a hexamer of (beta/alpha)(8)-barrels in the crystallographic asymmetric unit. The active site is highly similar to thos...
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Biochemical studies showed that the proband had half normal activities of IDH1 and RPE, suggesting that she was a heterozygote for both enzymes. The gene for IDH, has been assigned to sub-band 2q33.3 by Narahara et al.4 High resolution GTG and RBA banding analysis showed that the segment 2q32. 1->q34 was deleted in the proband in agreement with their observations. On the other hand, the gene fo...
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عنوان ژورنال:
- Journal of medical genetics
دوره 25 12 شماره
صفحات -
تاریخ انتشار 1988