Figure 1 | Genetics in Medicine

Figure 1

From: ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics

Figure 1

Southern blot using Eco RI and Eag I digestion, probed with StB12.3, using extended electrophoresis to illustrate several subtle specimen types. 1: Normal female; 2: full-mutation male, note the combination of a predominant band with a diffuse smear; 3: female with 28 and 52 repeats, with the smaller allele predominantly active; 4: female with 26 and 52 repeats, with the larger allele predominantly active; 5: female with 18 and ~80 repeats, with equal X-inactivation; 6: normal male; 7: normal male, underloaded and smiling due to DNA degradation (the apparent line between lanes 6 and 7 is a photographic artifact); 8: normal female; 9: normal male; 10: normal male; 11: affected male, underloaded and very diffuse; 12: premutation male; 13: female with 20 and 70 repeats, with the smaller allele virtually exclusively active (the only evidence of abnormality is the slow migration of the “5.2 kb” band); 14: female with 27 and 42 repeats, with the larger allele somewhat more active; 15–17: unremarkable normal females and male. Figure provided by Genetics & IVF Institute. Reprinted from ref. 101.

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