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Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band

✍ Scribed by F. Dagna Bricarelli; M. Magnani; A. Arslanian; G. Camera; D. A. Coviello; P. Pietro; B. Dallapiccola

Publisher: Springer
Year: 1981
Tongue: English
Weight: 270 KB
Volume: 59
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00293057

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✦ Synopsis

The quantitative expression of GALT and galactose utilization have been investigated in two patients with 9p deletion. Case 1 had a distal deletion of the band 9p22 leads to pter, while case 2 had an interstitial deletion of the region 9p133 leads to p23. In the former patient GALT activity and galactose utilization were found to be normal: in the latter decreased GALT activity and a significant decrease of galactose utilization were present. The above findings suggest that the GALT locus is in the 9p21 band.

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Gene dosage studies supporting localizat

Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9

✍ Shih, Ling Yu ;Suslak, Lorraine ;Rosin, Irit ;Searle, Bernard M. ;Desposito, Fra 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 255 KB

A newborn male was diagnosed as having a duplication of distal 9p material by GTG banding analysis. Gene dose studies for galactose-1-phosphate uridyl transferase (GALT) were performed on the patient, his mother (the balanced translocation carrier), a 3-year-old 47,XY +9p male control, a 30-year-old