Fig. 1 | Genetics in Medicine

Fig. 1

From: A feasibility study for the newborn screening of spinal muscular atrophy

Fig. 1

A representative real-time polymerase chain reaction of RNase P (A) and SMN1 (B) using a normal sample, a spinal muscular atrophy carrier, and an affected individual. A competitive, radiolabeled polymerase chain reaction was performed on all samples to independently determine SMN1 and SMN2 copy numbers (data not shown). Fluorescence is recorded at each cycle and reported as a threshold cycle (CT) value that describes the fractional cycle at which point the fluorescence intensity passes a limit set within the exponential phase of the amplification curve. Gene copy numbers, corresponding amplification curve colors, and CT values (table at right).

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