Association of rs 9340799 and rs 224693 SNPs in Estrogen Receptor Gene with Breast Cancer
Muhammad Ismail1, Jabbar Khan1*, Zahid Rauf2, Khalid Khan3 and Muhammad Rafi1
Amplified product of ESR1 gene (rs 9340799) of clinically diagnosed breast cancer patients of Pashtun ethnic group. A, Lanes 1,2,3,4 show amplified product of 524bp. Lane M is 100bp ladder as a marker. B, Digestion of amplified PCR product (524bp) with Xbal restriction enzyme. Lanes 1, 3 and 6 show the samples completely digested Xbal enzyme, producing 2 bands of 297 and 227bp (pretty close to each other that appears as single band). This confirms the presence of G>A polymorphisms and are homozygous for minor allele “A”. Lanes 2, 5 and 7 show the samples incompletely digested by the Xbal restriction enzyme and are thus heterozygous for minor allele “A”, giving 3 bands of 524, 297 and 227bp. Lanes 4 show sample not digested by Xbal enzyme and thus showing a single band of 524bp. This sample is homozygous for major allele “G”. M is a 100bp ladder. Lane 8 is blank. C, amplified product of ESR1 gene (rs2234693) of clinically diagnosed breast cancer patients of Pashtun ethnic group. D, Digestion of amplified PCR product using PvuII restriction enzyme. Lanes 1 to 8, samples are not digested by PvuII restriction enzyme, showing a single band of 451b. Thus all the patients lack rs2234693 (C>T) polymorphism. M is a 100bp ladder used as a marker.