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Q188R, K285N, and N314D mutation-associated alleles in the galactose-1-phosphate uridyltransferase gene and female infertility Jana Lukac Bajalo, Ph.D., Simona Mencej, M.Pharm., Natasa Karas, Ph.D., Barbara Mlinar, M.Sc., Irena Prodan Zitnik, M.Pharm., Ksenija Gersak, Ph.D. Fertility and Sterility Volume 83, Issue 3, Pages (March 2005) DOI: /j.fertnstert Copyright © 2005 American Society for Reproductive Medicine Terms and Conditions
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FIGURE 1 An RFLP analysis of GALT gene mutations on agarose gel. Lanes 1, 4, 7, 10: DNA marker (fragments 1,000; 750; 500; 300; 150; and 50 bp). (A) Q188R mutation analysis. Lane 2: Q188R heterozygote (fragments 415, 273, 157, and 142 bp; fragments 157 and 142 are seen in one band only). Lane 3: normal homozygote (fragments 415 and 157 bp). (B) K285N mutation analysis. Lane 5: K285N heterozygote (fragments 573, 475, 142, and 98 bp). Lane 6: normal homozygote (fragments 573 and 142 bp). (C) N314D mutation analysis. Lane 8: normal homozygote (fragments 404 and 46 bp). Lane 9: N314D heterozygote (fragments 404, 302, 102, and 46 bp). (D) IVS5-24G>A intron mutation analysis. Lane 11: normal homozygote (fragments 357 and 215 bp). Lane 12: IVS5-24G>A heterozygote (fragments 572, 357, and 215 bp). Fertility and Sterility , DOI: ( /j.fertnstert ) Copyright © 2005 American Society for Reproductive Medicine Terms and Conditions
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