两个无亲缘关系的9p-患者中GALT的表达。支持将GALT基因座定位于9p21带的证据。
Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band.
作者信息
Dagna Bricarelli F, Magnani M, Arslanian A, Camera G, Coviello D A, Di Pietro P, Dallapiccola B
出版信息
Hum Genet. 1981;59(2):112-4. doi: 10.1007/BF00293057.
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.
对两名9p缺失患者的半乳糖-1-磷酸尿苷酰转移酶（GALT）定量表达及半乳糖利用情况进行了研究。病例1为9p22带远端缺失直至pter，而病例2为9p133至p23区域的间质缺失。在前一名患者中，发现GALT活性和半乳糖利用正常；在后一名患者中，GALT活性降低且半乳糖利用显著减少。上述发现提示GALT基因座位于9p21带。
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