Fig. 3

Restriction site analysis of three mutations. (A) IVS2-2 a→c. After amplification a 392-bp fragment of genomic DNA is digested with BstNI. Lane 1 DNA molecular weight marker V (Boehringer Mannheim, Germany). The mutation abolishes a restriction site and an undigested 223-bp fragment can be demonstrated as an extra band in lanes 2 and 3; lanes 4 and 5 are healthy controls and lane 6 is an undigested sample. (B) 338 G→C. After amplification a 1260-bp fragment of genomic DNA is digested with Bsu36I. Lane 1 DNA molecular weight marker VI. The mutation abolishes a restriction site and an undigested 1169-bp fragment can be demonstrated as an extra band in lanes 2 and 3; lanes 4 and 5 are healthy controls and lane 6 is an undigested sample. (C) 470A→C. After amplification a 500-bp fragment of genomic DNA is digested using Bsu36I enzyme. Lane 1 DNA molecular weight marker IV. The mutation abolishes a restriction site and an undigested 500-bp fragment can be demonstrated as an extra band in lanes 2 and 4; lanes 3 and 5 are healthy controls and lane 6 is an undigested sample.