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. 2014 Aug 7;33(5):416–423. doi: 10.1002/pd.4066

Figure 4.

Figure 4

Restriction digest of PCR products for two thanatophoric dysplasia (TD) mutations. (A) The c.742C>T type I TD mutation was detected using PCR followed by digestion with AfeI, BsiHKAI and DraIII. cffDNA from a woman carrying an unaffected fetus is digested with AfeI (lane 3) but remains uncut using BsiHKAI (lane 4) and DraIII (lane 5); conversely, in an affected fetus, the AfeI site is destroyed, leaving some of the cffDNA undigested (lane 8), and a BbsI site (lane 9) and a DraIII site (lane 10) are created. (B) The c.1948A>G mutation was detected using digestion with the BbsI enzyme and two different primer sets. In the presence of an unaffected fetus, all cffDNA is digested by BbsI (lanes 3 and 8), whereas with an affected fetus, the BbsI restriction site is destroyed, leaving some of the cffDNA uncut (lanes 5 and 10)