Najfeld V, Ballard S G, Menninger J, Ward D C, Bouhassira E E, Schwartz R S, Nagel R L, Rybicki A C
Tumor Cytogenetics Laboratory, Polly Annenberg Levee Hematology Center, Mount Sinai School of Medicine, New York, NY.
Am J Hum Genet. 1992 Jan;50(1):71-5.
Protein 4.2 (P4.2), one of the major components of the red-blood-cell membrane, is located on the interior surface, where it binds with high affinity to the cytoplasmic domain of band 3. Individuals whose red blood cells are deficient in P4.2 have osmotically fragile, abnormally shaped cells and moderate hemolytic anemia. cDNA clones from both the 5' and the 3' coding regions of the P4.2 gene were used to map its chromosomal location by fluorescence in situ hybridization. The probes, individually or in combination, gave specific hybridization signals on chromosome 15. The hybridization locus was identified by combining fluorescence images of the probe signals with fluorescence banding patterns generated by Alu-PCR (R-like) probe and by DAPI staining (G-like). Our results demonstrate that the locus of the P4.2 gene is located within 15q15.
蛋白质4.2(P4.2)是红细胞膜的主要成分之一,位于内表面,在那里它与带3的细胞质结构域高亲和力结合。红细胞中缺乏P4.2的个体具有渗透脆性、形状异常的细胞和中度溶血性贫血。来自P4.2基因5'和3'编码区的cDNA克隆用于通过荧光原位杂交来定位其染色体位置。这些探针单独或组合使用,在15号染色体上产生了特异性杂交信号。通过将探针信号的荧光图像与由Alu-PCR(R样)探针和DAPI染色(G样)产生的荧光带型相结合,确定了杂交位点。我们的结果表明,P4.2基因的位点位于15q15内。