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Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation.

作者信息

Pai G S, Sprenkle J A, Do T T, Mareni C E, Migeon B R

出版信息

Proc Natl Acad Sci U S A. 1980 May;77(5):2810-3. doi: 10.1073/pnas.77.5.2810.

DOI:10.1073/pnas.77.5.2810
PMID:6930669
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC349494/
Abstract

We report a unique and complex karyotypic rearrangement involving chromosomes X, 3, 7, and 21. Blood cells and fibroblasts from the proband do not express the maternal allele for glucose-6-phosphate dehydrogenase (G6PD), providing biochemical evidence for nonrandom expression of X-linked genes in balanced X-autosome translocations. The break point on the X chromosome, at the junction of Xq27-Xq28, separates the loci for hypoxanthine phosphoribosyltransferase (HPRT) and G6PD. Studies of mouse-human hybrids derived from the proband's cells indicate that G6PD, at q28, is clearly distal to all other X loci now assigned. From these and previous studies, we can localize HPRT to that segment between Xq26 and Xq27. The studies also provide further evidence for the stability of the inactive X phenotype in hybrid cells.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/520b/349494/f33b49848de7/pnas00492-0468-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/520b/349494/b58070e30a6a/pnas00492-0466-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/520b/349494/71dfd8e84f33/pnas00492-0466-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/520b/349494/49de03bb6b4f/pnas00492-0466-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/520b/349494/c9743536a312/pnas00492-0467-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/520b/349494/8f417c9a1763/pnas00492-0468-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/520b/349494/f33b49848de7/pnas00492-0468-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/520b/349494/b58070e30a6a/pnas00492-0466-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/520b/349494/71dfd8e84f33/pnas00492-0466-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/520b/349494/49de03bb6b4f/pnas00492-0466-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/520b/349494/c9743536a312/pnas00492-0467-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/520b/349494/8f417c9a1763/pnas00492-0468-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/520b/349494/f33b49848de7/pnas00492-0468-b.jpg

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