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. Author manuscript; available in PMC: 2016 Mar 17.
Published in final edited form as: Hum Genet. 2011 Dec 29;131(7):1123ā€“1135. doi: 10.1007/s00439-011-1132-4

Fig 3.

Fig 3

Pedigree of the family and the results of the restriction analysis. Since Q353X results in a loss of a restriction site for Cac8I, digestion of exon 6 with Cac8I results in an undigested 102 band in the patient, in one of his sisters and mother. In contrast, V1727F causes a gain of a restriction site for SexAI. Thus, digestion of exon 31 with SexAI results in an extra 190 band and a 77 band (not shown in the figure) in the patient, his other sister and his paternal uncle. DNA from the deceased brother was not available, thus the presumptive compound heterozygous status could not be confirmed.