Shows T B, Brown J A
Proc Natl Acad Sci U S A. 1975 Jun;72(6):2125-9. doi: 10.1073/pnas.72.6.2125.
Human genes coding for hypoxanthine phosphoribosyltransferase (HPRT, EC 2.4.2.8; IMP:pyrophosphate phosphoribosyltransferase), glucose-6-phosphate dehydrogenase (G6PD, EC 1.1.1.49; D-glucose-6-phosphate:NADP+ 1-oxidoreductase), and phosphoglycerate kinase (PGK, EC 2.7.2.3; ATP:3-phospho-D-glycerate 1-phosphotransferase) have been assigned to specific regions on the long arm of the X chromosome by somatic cell gentic techniques. Gene assignment and linear order were determined by employing human somatic cells possessing an X/9 translocation or an X/22 translocation in man-mouse cell hybridization studies. The X/9 translocation involved the majority of the X long arm translocated to chromosome 9 and the X/22 translocation involved the distal half of the X long arm translocated to 22. In each case these rearrangements appeared to be reciprocal. Concordant segregation of X-linked enzymes and segments of the X chromosome generated by the translocations indicated assignment of the PGK gene to a proximal long arm region (q12-q22) and the HPRT and G6PD genes to the distal half (q22-qter) of the X long arm. Further evidence suggests a gene order on the X long arm of centromere-PGK-HPRT-G6PD.
通过体细胞遗传学技术，已将编码次黄嘌呤磷酸核糖转移酶（HPRT，EC 2.4.2.8；IMP：焦磷酸磷酸核糖转移酶）、葡萄糖-6-磷酸脱氢酶（G6PD，EC 1.1.1.49；D-葡萄糖-6-磷酸：NADP⁺ 1-氧化还原酶）和磷酸甘油酸激酶（PGK，EC 2.7.2.3；ATP：3-磷酸-D-甘油酸 1-磷酸转移酶）的人类基因定位到X染色体长臂的特定区域。在人-鼠细胞杂交研究中，通过使用具有X/9易位或X/22易位的人类体细胞来确定基因定位和线性顺序。X/9易位涉及大部分X染色体长臂易位到9号染色体，X/22易位涉及X染色体长臂的远端一半易位到22号染色体。在每种情况下，这些重排似乎都是相互的。由易位产生的X连锁酶和X染色体片段的一致分离表明，PGK基因定位于长臂近端区域（q12-q22），HPRT和G6PD基因定位于X染色体长臂的远端一半（q22-qter）。进一步的证据表明，在X染色体长臂上的基因顺序为着丝粒-PGK-HPRT-G6PD。
